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Shashi KK, Weldon CB, Voss SD. Positron emission tomography in the diagnosis and management of primary pediatric lung tumors. Pediatr Radiol 2024; 54:671-683. [PMID: 38231400 DOI: 10.1007/s00247-023-05847-8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/14/2023] [Revised: 12/23/2023] [Accepted: 12/28/2023] [Indexed: 01/18/2024]
Abstract
Primary pediatric lung tumors are uncommon and have many overlapping clinical and imaging features. In contrast to adult lung tumors, these rare pediatric neoplasms have a relatively broad histologic spectrum. Informed by a single-institution 13-year retrospective record review, we present an overview of the most common primary pediatric lung neoplasms, with a focus on the role of positron emission tomography (PET), specifically 18F-fluorodeoxyglucose (FDG) PET and 68Ga-DOTATATE PET, in the management of primary pediatric lung tumors. In addition to characteristic conventional radiographic and cross-sectional imaging findings, knowledge of patient age, underlying cancer predisposition syndromes, and PET imaging features may help narrow the differential. While metastases from other primary malignancies remain the most commonly encountered pediatric lung malignancy, the examples presented in this pictorial essay highlight many of the important conventional radiologic and PET imaging features of primary pediatric lung malignancies.
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Affiliation(s)
- Kumar K Shashi
- Department of Radiology, Boston Children's Hospital, 300 Longwood Ave, Boston, MA, 02115, USA
- Department of Radiology, Arkansas Children's Hospital, 1 Children's Way, Little Rock, AR, 72202, USA
| | - Christopher B Weldon
- Department of Surgery, Boston Children's Hospital, 300 Longwood Ave, Boston, MA, 02115, USA
| | - Stephan D Voss
- Department of Radiology, Boston Children's Hospital, 300 Longwood Ave, Boston, MA, 02115, USA.
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Huang W, Zhang Y, Yang Q, Gao G, Qiu Y, Li L, Kang L. Clinical imaging of primary pulmonary nucleoprotein of the testis carcinoma. Front Med (Lausanne) 2023; 9:1083206. [PMID: 36687409 PMCID: PMC9845940 DOI: 10.3389/fmed.2022.1083206] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/28/2022] [Accepted: 12/12/2022] [Indexed: 01/06/2023] Open
Abstract
Objective Primary pulmonary nucleoprotein of the testis (NUT) carcinoma is very rare in the clinic. In this study, the clinicopathological manifestations and imaging features of the primary pulmonary NUT carcinoma were investigated to improve the diagnosis of this disease. Methods Six patients with pathologically diagnosed pulmonary NUT carcinoma were analyzed, including three males and three females, aged 19-64 (49.00 ± 16.40) years, with clinical manifestations of cough in two cases, hoarseness in one case, blood in sputum in one case, chest pain in one case, and physical examination findings in one case, with a disease duration of 5 days to 4 months. The clinical and imaging data including CT and PET/CT were retrospectively analyzed. Further literature reviews were analyzed in both pulmonary and extrapulmonary NUT carcinoma cases who performed 18F-FDG PET/CT. Results Most of the patients with pulmonary NUT carcinomas presented as heterogeneous lobulated masses (83.33%), four cases (66.67%) were located in the upper lobe of the left lung, one case (16.67%) in the middle lobe of the right lung, and one case (16.67%) in the lower lobe of the right lung, with the maximum diameter ranging from 1.30 to 8.90 cm and the median of 3.55 cm, most of them were irregularly shaped, with more lobulated margins and more heterogeneous density (83.33%), and the enhancement was mild. PET/CT showed increased 18F-FDG uptake in the lesion and metastatic areas. Both the pulmonary NUT patients in this study and literature reviews showed the SUVmax of the tumor ranged from 5 to 40 with an average value of 12.8, whereas that of extrapulmonary lesions had a range of SUVmax at 4.5-64.1 and a mean of 13.8. Conclusion In patients with central lung masses, rapid disease progression, and poor response to initial treatment, the possibility of NUT cancer should be considered and anti-NUT monoclonal antibody immunohistochemical staining, combined with genetic detection, if necessary, should be performed as soon as possible. CT and PET/CT imaging are essential for the staging, management, treatment response assessment, and monitoring of pulmonary NUT cancer.
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Affiliation(s)
- Wenpeng Huang
- Department of Nuclear Medicine, Peking University First Hospital, Beijing, China
| | - Yongbai Zhang
- Department of Nuclear Medicine, Peking University First Hospital, Beijing, China
| | - Qi Yang
- Department of Nuclear Medicine, Peking University First Hospital, Beijing, China
| | - Ge Gao
- Department of Medical Imaging, Peking University First Hospital, Beijing, China
| | - Yongkang Qiu
- Department of Nuclear Medicine, Peking University First Hospital, Beijing, China
| | - Liming Li
- Department of Radiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China
| | - Lei Kang
- Department of Nuclear Medicine, Peking University First Hospital, Beijing, China,*Correspondence: Lei Kang,
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Huang WP, Gao G, Qiu YK, Yang Q, Song LL, Chen Z, Gao JB, Kang L. Multimodality imaging and treatment of paranasal sinuses nuclear protein in testis carcinoma: A case report. World J Clin Cases 2022; 10:12395-12403. [PMID: 36483827 PMCID: PMC9724541 DOI: 10.12998/wjcc.v10.i33.12395] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/21/2022] [Revised: 09/28/2022] [Accepted: 10/26/2022] [Indexed: 11/22/2022] Open
Abstract
BACKGROUND Nuclear protein in testis (NUT) carcinoma is a rare aggressive malignant epithelial cell tumor, previously known as NUT midline carcinoma (NMC), characterized by an acquired rearrangement of the gene encoding NUT on chromosome 15q14. Due to the lack of characteristic pathological features, it is often underdiagnosed and misdiagnosed. A variety of methods can be used to diagnose NMC, including immunohistochemistry, karyotyping, fluorescence in situ hybridization, reverse transcription-polymerase chain reaction, and next-generation sequencing. So far, there is no standard treatment plan for NMC and the prognosis is poor, related to its rapid progression, easy recurrence, and unsatisfactory treatment outcome.
CASE SUMMARY A 58-year-old female came to our hospital with a complaint of eye swelling and pain for 8 d. The diagnosis of NMC was confirmed after postoperative pathology and genetic testing. The patient developed nausea and vomiting, headache, and loss of vision in both eyes to blindness after surgery. Magnetic resonance imaging (MRI) and positron emission tomography/computed tomography (PET/CT) performed after 1.5 mo postoperatively suggested tumor recurrence. The patient obtained remission after radiation therapy to some extent and after initial treatment with anti-angiogenic drugs and sonodynamic therapy (SDT), but cannot achieve long-term stability and eventually developed distant metastases, with an overall survival of only 17 mo.
CONCLUSION For patients with rapidly progressing sinus tumors and poor response to initial treatment, the possibility of NMC should be considered and immunohistochemical staining with anti-NUT should be performed as soon as possible, combined with genetic testing if necessary. CT, MRI, and PET/CT imaging are essential for the staging, management, treatment response assessment and monitoring of NMC. This case is the first attempt to apply heat therapy and SDT in the treatment of NMC, unfortunately, the prognosis remained poor.
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Affiliation(s)
- Wen-Peng Huang
- Department of Nuclear Medicine, Peking University First Hospital, Beijing 100034, China
| | - Ge Gao
- Department of Medical Imaging, Peking University First Hospital, Beijing 100034, China
| | - Yong-Kang Qiu
- Department of Nuclear Medicine, Peking University First Hospital, Beijing 100034, China
| | - Qi Yang
- Department of Nuclear Medicine, Peking University First Hospital, Beijing 100034, China
| | - Le-Le Song
- Department of Nuclear Medicine, Peking University First Hospital, Beijing 100034, China
| | - Zhao Chen
- Department of Nuclear Medicine, Peking University First Hospital, Beijing 100034, China
| | - Jian-Bo Gao
- Department of Radiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, Henan Province, China
| | - Lei Kang
- Department of Nuclear Medicine, Peking University First Hospital, Beijing 100034, China
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NUT Carcinoma in Children and Adolescents: The Expert European Standard Clinical Practice Harmonized Recommendations. J Pediatr Hematol Oncol 2022; 45:165-173. [PMID: 36219702 DOI: 10.1097/mph.0000000000002568] [Citation(s) in RCA: 6] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/11/2022] [Accepted: 09/08/2022] [Indexed: 11/25/2022]
Abstract
BACKGROUND AND AIMS Nuclear protein of the testis (NUT) carcinoma (NC) is a rare and highly aggressive tumor mainly occurring in adolescents and young adults, defined by the presence of a somatic NUTM1 rearrangement. The aim is to establish internationally harmonized consensus recommendations for the diagnosis and treatment of adolescents and young adults with NC in the framework of the European Reference Network for Paediatric Oncology. METHODS The European Cooperative Study Group for Pediatric Rare Tumors developed recommendations according to the Consensus Conference Standard Operating procedure methodology and reviewed by external "experts." No evidence of level I to II exists. Recommendations were developed based on published prospective (level III), but more frequently retrospective series (level IV), case reports (level V), and personal expertise (level V). In addition, "strength" of recommendations were categorized by grading (grade A to E). RESULTS Histology is mandatory for the diagnosis of NC, including immunolabeling with anti-NUT antibodies and molecular biology (NUTM1 rearrangement) (level V; grade A). Treatment of NC usually combines aggressive approaches in multimodal regimens. Chemotherapy should be considered as first-line treatment (neoadjuvant vincristine-adriamycin-ifosfamide/cisplatin-adriamycin-ifsofamide or vincristine-doxorubicin-cyclophosphamide/ifosfamide-etoposide) for unresectable or metastatic tumor (ie, 3 courses), rapidly followed by local treatment (level IV; grade B). Referral to a specialized surgical oncology center is highly recommended (level V; grade A). In localized NC, a complete microscopic surgical resection should be attempted whenever and as soon as possible, followed by primary irradiation (60 to 70 Gy) and involved lymph nodes area (level IV; grade B). For head and neck tumors, a systematic neck dissection might be considered, even if N0 (level V; grade C). Adjuvant postirradiation chemotherapy is recommended, for a total of 9 to 12 courses (level IV; grade B). For first-line resected tumors, concomitant adjuvant chemotherapy to radiotherapy may be discussed (level IV; grade B). Targeted therapies and immunotherapeutic regimens should be delivered in the setting of prospective trials (level V; grade B). CONCLUSIONS This project leads to a consensus strategy based on international experience with this very rare disease.
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Lauer UM, Hinterleitner M, Horger M, Ohnesorge PV, Zender L. NUT Carcinoma—An Underdiagnosed Malignancy. Front Oncol 2022; 12:914031. [PMID: 35957893 PMCID: PMC9360329 DOI: 10.3389/fonc.2022.914031] [Citation(s) in RCA: 20] [Impact Index Per Article: 6.7] [Reference Citation Analysis] [Abstract] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/06/2022] [Accepted: 05/30/2022] [Indexed: 11/13/2022] Open
Abstract
NUT carcinoma (NC) is a rare and highly aggressive malignancy with a dismal prognosis and a median survival of 6–9 months only. Although very few cases of NC are reported each year, the true prevalence is estimated to be much higher, with NC potentially widely underdiagnosed due to the lack of awareness. NC primarily occurs in midline structures including thorax, head, and neck; however, other sites such as pancreas and kidney are also affected, albeit at lower frequencies. NC is characterized by a single translocation involving the NUTM1 (NUT midline carcinoma family member 1) gene and different partner genes. The resulting fusion proteins initiate tumorigenesis through a mechanism involving BET (bromo-domain and extra-terminal motif) proteins such as Bromodomain-containing protein 4 (BRD4) and inordinate acetylation of chromatin, leading to the dysregulation of growth and differentiation genes. While no clinical characteristics are specific for NC, some histologic features can be indicative; therefore, patients with these tumor characteristics should be routinely tested for NUTM1. The diagnosis of NC using immunohistochemistry with a highly specific antibody is straightforward. There are currently no standard-of-care treatment options for patients with NC. However, novel therapies specifically addressing the unique tumorigenic mechanism are under investigation, including BET inhibitors. This review aims to raise awareness of this underdiagnosed cancer entity and provide all patients the opportunity to be properly diagnosed and referred to a clinical study.
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Affiliation(s)
- Ulrich M. Lauer
- Medical Oncology and Pneumology, Internal Medicine VIII, University Hospital Tübingen, Tübingen, Germany
- German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Tübingen, Germany
- Cluster of Excellence iFIT (EXC 2180) “Image-Guided and Functionally Instructed Tumor Therapies”, University of Tübingen, Tübingen, Germany
- *Correspondence: Ulrich M. Lauer,
| | - Martina Hinterleitner
- Medical Oncology and Pneumology, Internal Medicine VIII, University Hospital Tübingen, Tübingen, Germany
- German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Tübingen, Germany
- Cluster of Excellence iFIT (EXC 2180) “Image-Guided and Functionally Instructed Tumor Therapies”, University of Tübingen, Tübingen, Germany
| | - Marius Horger
- German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Tübingen, Germany
- Department of Diagnostic and Interventional Radiology, Eberhard Karls University, Tübingen, Germany
| | - Paul V. Ohnesorge
- Medical Oncology and Pneumology, Internal Medicine VIII, University Hospital Tübingen, Tübingen, Germany
- German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Tübingen, Germany
- Cluster of Excellence iFIT (EXC 2180) “Image-Guided and Functionally Instructed Tumor Therapies”, University of Tübingen, Tübingen, Germany
| | - Lars Zender
- Medical Oncology and Pneumology, Internal Medicine VIII, University Hospital Tübingen, Tübingen, Germany
- German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Tübingen, Germany
- Cluster of Excellence iFIT (EXC 2180) “Image-Guided and Functionally Instructed Tumor Therapies”, University of Tübingen, Tübingen, Germany
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Cooper KS, Hull NC, Horst KK, Kolbe AB, Zingula SN, Thacker PG. NUT carcinoma of the thorax in a 7-year-old child. Radiol Case Rep 2022; 17:1549-1553. [PMID: 35282323 PMCID: PMC8914253 DOI: 10.1016/j.radcr.2022.01.077] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/08/2021] [Revised: 01/26/2022] [Accepted: 01/26/2022] [Indexed: 11/04/2022] Open
Abstract
We present a rare case of NUT midline carcinoma of the thorax in a 7-year-old-male who presented with nonspecific abdominal pain. The patient was initially evaluated with an abdominal ultrasound, which was negative, followed by an abdominopelvic CT that demonstrated a partially visualized infiltrative mediastinal mass. Subsequent, chest CT showed a large, aggressive appearing heterogenous middle mediastinal mass with pulmonary parenchyma, hilar, and posterior mediastinal invasion. Given its epicenter in the middle mediastinum and its irregular and invasive appearance, the primary consideration was NUT midline carcinoma, subsequently confirmed on biopsy.
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Affiliation(s)
- Kendall S Cooper
- Department of Radiology, Mayo Clinic Rochester, 200 1st St SW, Rochester, MN 55902, USA
| | - Nathan C Hull
- Department of Radiology, Mayo Clinic Rochester, 200 1st St SW, Rochester, MN 55902, USA
| | - Kelly K Horst
- Department of Radiology, Mayo Clinic Rochester, 200 1st St SW, Rochester, MN 55902, USA
| | - Amy B Kolbe
- Department of Radiology, Mayo Clinic Rochester, 200 1st St SW, Rochester, MN 55902, USA
| | - Shannon N Zingula
- Department of Radiology, Mayo Clinic Rochester, 200 1st St SW, Rochester, MN 55902, USA
| | - Paul G Thacker
- Department of Radiology, Mayo Clinic Rochester, 200 1st St SW, Rochester, MN 55902, USA
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Li X, Shi H, Zhang W, Bai C, He M, Ta N, Huang H, Ning Y, Fang C, Qin H, Dong Y. Immunotherapy and Targeting the Tumor Microenvironment: Current Place and New Insights in Primary Pulmonary NUT Carcinoma. Front Oncol 2021; 11:690115. [PMID: 34660264 PMCID: PMC8515126 DOI: 10.3389/fonc.2021.690115] [Citation(s) in RCA: 16] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/02/2021] [Accepted: 09/13/2021] [Indexed: 12/12/2022] Open
Abstract
Primary pulmonary nuclear protein of testis carcinoma is a rare and highly aggressive malignant tumor. It accounts for approximately 0.22% of primary thoracic tumors and is little known, so it is often misdiagnosed as pulmonary squamous cell carcinoma. No effective treatment has been formed yet, and the prognosis is extremely poor. This review aims to summarize the etiology, pathogenesis, diagnosis, treatment, and prognosis of primary pulmonary nuclear protein of testis carcinoma in order to better recognize it and discuss the current and innovative strategies to overcome it. With the increasing importance of cancer immunotherapy and tumor microenvironment, the review also discusses whether immunotherapy and targeting the tumor microenvironment can improve the prognosis of primary pulmonary nuclear protein of testis carcinoma and possible treatment strategies. We reviewed and summarized the clinicopathological features of all patients with primary pulmonary nuclear protein of testis carcinoma who received immunotherapy, including initial misdiagnosis, disease stage, immunohistochemical markers related to tumor neovascularization, and biomarkers related to immunotherapy, such as PD-L1 (programmed death-ligand 1) and TMB (tumor mutational burden). In the meanwhile, we summarized and analyzed the progression-free survival (PFS) and the overall survival (OS) of patients with primary pulmonary nuclear protein of testis carcinoma treated with PD-1 (programmed cell death protein 1)/PD-L1 inhibitors and explored potential population that may benefit from immunotherapy. To the best of our knowledge, this is the first review on the exploration of the tumor microenvironment and immunotherapy effectiveness in primary pulmonary nuclear protein of testis carcinoma.
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Affiliation(s)
- Xiang Li
- Department of Respiratory and Critical Care Medicine, Changhai Hospital (The First Affiliated Hospital of Naval Medical University), Naval Medical University (Second Military Medical University), Shanghai, China
| | - Hui Shi
- Department of Respiratory and Critical Care Medicine, Changhai Hospital (The First Affiliated Hospital of Naval Medical University), Naval Medical University (Second Military Medical University), Shanghai, China
| | - Wei Zhang
- Department of Respiratory and Critical Care Medicine, Changhai Hospital (The First Affiliated Hospital of Naval Medical University), Naval Medical University (Second Military Medical University), Shanghai, China
| | - Chong Bai
- Department of Respiratory and Critical Care Medicine, Changhai Hospital (The First Affiliated Hospital of Naval Medical University), Naval Medical University (Second Military Medical University), Shanghai, China
| | - Miaoxia He
- Department of Pathology, Changhai Hospital (The First Affiliated Hospital of Naval Medical University), Naval Medical University (Second Military Medical University), Shanghai, China
| | - Na Ta
- Department of Pathology, Changhai Hospital (The First Affiliated Hospital of Naval Medical University), Naval Medical University (Second Military Medical University), Shanghai, China
| | - Haidong Huang
- Department of Respiratory and Critical Care Medicine, Changhai Hospital (The First Affiliated Hospital of Naval Medical University), Naval Medical University (Second Military Medical University), Shanghai, China
| | - Yunye Ning
- Department of Respiratory and Critical Care Medicine, Changhai Hospital (The First Affiliated Hospital of Naval Medical University), Naval Medical University (Second Military Medical University), Shanghai, China
| | - Chen Fang
- Department of Respiratory and Critical Care Medicine, Changhai Hospital (The First Affiliated Hospital of Naval Medical University), Naval Medical University (Second Military Medical University), Shanghai, China
| | - Hao Qin
- Department of Respiratory and Critical Care Medicine, Changhai Hospital (The First Affiliated Hospital of Naval Medical University), Naval Medical University (Second Military Medical University), Shanghai, China
| | - Yuchao Dong
- Department of Respiratory and Critical Care Medicine, Changhai Hospital (The First Affiliated Hospital of Naval Medical University), Naval Medical University (Second Military Medical University), Shanghai, China
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Virarkar M, Saleh M, Ramani NS, Morani AC, Bhosale P. Imaging spectrum of NUT carcinomas. Clin Imaging 2020; 67:198-206. [PMID: 32866821 DOI: 10.1016/j.clinimag.2020.07.025] [Citation(s) in RCA: 10] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/16/2020] [Revised: 07/03/2020] [Accepted: 07/23/2020] [Indexed: 12/22/2022]
Abstract
Nuclear protein of the testis (NUT) carcinoma (NC) (formerly known as NUT midline carcinoma) is an aggressive pleomorphic squamous cell carcinoma with a dismal prognosis. Primary NC tumors are commonly located in the chest or head and neck regions. Imaging plays an indispensable role in the staging, management, treatment response assessment, and surveillance of NC. Primary pulmonary NC usually presents as a large mass with lymphadenopathy and pleural involvement. Primary head and neck NC presents as a large expansile necrotic mass in the sinonasal region with locoregional destruction and occasional cervical lymph node involvement. These imaging features are relatively non-specific but are consistent among patients. Currently, there are no standardized guidelines for the treatment of NC. Because of its rarity, paucity of reports in the medical literature, and the lack of awareness among radiologists, NUT carcinoma (NC) has been largely underdiagnosed and misdiagnosed. Clinical aggressive features and pleomorphic/undifferentiated squamous cell carcinoma should prompt genetic evaluation for NUT translocation to diagnose NC. In this article, we discuss NC's clinicopathologic and imaging features and treatment options, including emerging new treatments.
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Affiliation(s)
- Mayur Virarkar
- Department of Diagnostic Radiology, The University of Texas MD Anderson Cancer Center, Houston, TX, United States of America.
| | - Mohammed Saleh
- Department of Diagnostic Radiology, The University of Texas MD Anderson Cancer Center, Houston, TX, United States of America
| | - Nisha Subhashchandra Ramani
- Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX, United States of America
| | - Ajaykumar C Morani
- Department of Diagnostic Radiology, The University of Texas MD Anderson Cancer Center, Houston, TX, United States of America
| | - Priya Bhosale
- Department of Diagnostic Radiology, The University of Texas MD Anderson Cancer Center, Houston, TX, United States of America
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Orman G, Masand P, Hicks J, Huisman TAGM, Guillerman RP. Pediatric thoracic mass lesions: Beyond the common. Eur J Radiol Open 2020; 7:100240. [PMID: 32577435 PMCID: PMC7300149 DOI: 10.1016/j.ejro.2020.100240] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/16/2019] [Revised: 04/08/2020] [Accepted: 06/05/2020] [Indexed: 01/03/2023] Open
Abstract
Thoracic mass lesions can be categorized as originating in one of the three major compartments: a) chest wall and pleura, b) lung parenchyma and airways, c) mediastinum. While some of these, such as lymphoma, are common in both children and adults, others are rare and unique to childhood. The goal of this review is to familiarize radiologists with unusual but distinctive mass lesions of the pediatric thorax.
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Affiliation(s)
- Gunes Orman
- Edward B. Singleton Department of Radiology, Texas Children's Hospital, 6701 Fannin Street, Houston, TX, 77030 United States
| | - Prakash Masand
- Edward B. Singleton Department of Radiology, Texas Children's Hospital, 6701 Fannin Street, Houston, TX, 77030 United States
| | - John Hicks
- Department of Pathology, Baylor College of Medicine, 1 Baylor Plaza, Houston, TX 77030, United States
| | - Thierry A G M Huisman
- Edward B. Singleton Department of Radiology, Texas Children's Hospital, 6701 Fannin Street, Houston, TX, 77030 United States
| | - R Paul Guillerman
- Edward B. Singleton Department of Radiology, Texas Children's Hospital, 6701 Fannin Street, Houston, TX, 77030 United States
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Lichtenberger JP, Biko DM, Carter BW, Pavio MA, Huppmann AR, Chung EM. Primary Lung Tumors in Children: Radiologic-Pathologic Correlation From the Radiologic Pathology Archives. Radiographics 2019; 38:2151-2172. [PMID: 30422774 DOI: 10.1148/rg.2018180192] [Citation(s) in RCA: 26] [Impact Index Per Article: 4.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/12/2023]
Abstract
Primary lung tumors in children are rare, with a narrow range of diagnostic considerations. However, the overlapping imaging appearances of these tumors necessitate attention to key discriminating imaging and pathologic features. In the neonate and infant, the important considerations include pleuropulmonary blastoma (PPB), infantile fibrosarcoma, and fetal lung interstitial tumor. Among these tumors, imaging findings such as air-filled cysts in type 1 PPB and homogeneously low attenuation of fetal lung interstitial tumors are relatively specific. Key pathologic and genetic discriminators among this group of tumors include the DICER1 germline mutation found in PPB and the t(12,15)(p13;q25) translocation and ETV6-NTRK3 fusion gene seen in infantile fibrosarcoma. Primary lung tumors in older children include inflammatory myofibroblastic tumors (IMTs), carcinoid salivary gland-type tumors of the lung, recurrent respiratory papillomatosis, and other rare entities. IMT, a spindle-cell proliferation with inflammatory elements, is the most common lung tumor in children. Anaplastic lymphoma kinase, a receptor-type protein tyrosine kinase, is present in 50% of these tumors, and this finding may support an imaging diagnosis of IMT. Carcinoid tumors account for a substantial portion of childhood lung tumors, and their characteristic avid enhancement on images corresponds to the compressed fibrovascular stroma histologically. Furthermore, novel imaging agents used with somatostatin receptor analogs have an emerging role in the evaluation of carcinoid tumors. Although less common than mucoepidermoid carcinoma, adenoid cystic carcinoma tends to recur given the perineural spread seen histologically. Integrating radiologic and pathologic knowledge is critical to accurate diagnosis, treatment planning, and surveillance of primary lung tumors in children.
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Affiliation(s)
- John P Lichtenberger
- From the Department of Radiology and Radiological Sciences (J.P.L., E.M.C.) and Department of Pathology (J.P.L., A.R.H., E.M.C.), Uniformed Services University of the Health Sciences, 4301 Jones Bridge Rd, Bethesda, MD 20814; Thoracic Radiology Section (J.P.L., D.M.B.) and Pediatric Radiology Section (D.M.B., E.M.C.), American Institute for Radiologic Pathology, Silver Spring, Md; Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, Pa (D.M.B.); Department of Diagnostic Radiology, Division of Diagnostic Imaging, The University of Texas MD Anderson Cancer Center, Houston, Tex (B.W.C.); and Department of Radiology, Walter Reed National Military Medical Center, Bethesda, Md (M.A.P.)
| | - David M Biko
- From the Department of Radiology and Radiological Sciences (J.P.L., E.M.C.) and Department of Pathology (J.P.L., A.R.H., E.M.C.), Uniformed Services University of the Health Sciences, 4301 Jones Bridge Rd, Bethesda, MD 20814; Thoracic Radiology Section (J.P.L., D.M.B.) and Pediatric Radiology Section (D.M.B., E.M.C.), American Institute for Radiologic Pathology, Silver Spring, Md; Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, Pa (D.M.B.); Department of Diagnostic Radiology, Division of Diagnostic Imaging, The University of Texas MD Anderson Cancer Center, Houston, Tex (B.W.C.); and Department of Radiology, Walter Reed National Military Medical Center, Bethesda, Md (M.A.P.)
| | - Brett W Carter
- From the Department of Radiology and Radiological Sciences (J.P.L., E.M.C.) and Department of Pathology (J.P.L., A.R.H., E.M.C.), Uniformed Services University of the Health Sciences, 4301 Jones Bridge Rd, Bethesda, MD 20814; Thoracic Radiology Section (J.P.L., D.M.B.) and Pediatric Radiology Section (D.M.B., E.M.C.), American Institute for Radiologic Pathology, Silver Spring, Md; Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, Pa (D.M.B.); Department of Diagnostic Radiology, Division of Diagnostic Imaging, The University of Texas MD Anderson Cancer Center, Houston, Tex (B.W.C.); and Department of Radiology, Walter Reed National Military Medical Center, Bethesda, Md (M.A.P.)
| | - Michael A Pavio
- From the Department of Radiology and Radiological Sciences (J.P.L., E.M.C.) and Department of Pathology (J.P.L., A.R.H., E.M.C.), Uniformed Services University of the Health Sciences, 4301 Jones Bridge Rd, Bethesda, MD 20814; Thoracic Radiology Section (J.P.L., D.M.B.) and Pediatric Radiology Section (D.M.B., E.M.C.), American Institute for Radiologic Pathology, Silver Spring, Md; Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, Pa (D.M.B.); Department of Diagnostic Radiology, Division of Diagnostic Imaging, The University of Texas MD Anderson Cancer Center, Houston, Tex (B.W.C.); and Department of Radiology, Walter Reed National Military Medical Center, Bethesda, Md (M.A.P.)
| | - Alison R Huppmann
- From the Department of Radiology and Radiological Sciences (J.P.L., E.M.C.) and Department of Pathology (J.P.L., A.R.H., E.M.C.), Uniformed Services University of the Health Sciences, 4301 Jones Bridge Rd, Bethesda, MD 20814; Thoracic Radiology Section (J.P.L., D.M.B.) and Pediatric Radiology Section (D.M.B., E.M.C.), American Institute for Radiologic Pathology, Silver Spring, Md; Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, Pa (D.M.B.); Department of Diagnostic Radiology, Division of Diagnostic Imaging, The University of Texas MD Anderson Cancer Center, Houston, Tex (B.W.C.); and Department of Radiology, Walter Reed National Military Medical Center, Bethesda, Md (M.A.P.)
| | - Ellen M Chung
- From the Department of Radiology and Radiological Sciences (J.P.L., E.M.C.) and Department of Pathology (J.P.L., A.R.H., E.M.C.), Uniformed Services University of the Health Sciences, 4301 Jones Bridge Rd, Bethesda, MD 20814; Thoracic Radiology Section (J.P.L., D.M.B.) and Pediatric Radiology Section (D.M.B., E.M.C.), American Institute for Radiologic Pathology, Silver Spring, Md; Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, Pa (D.M.B.); Department of Diagnostic Radiology, Division of Diagnostic Imaging, The University of Texas MD Anderson Cancer Center, Houston, Tex (B.W.C.); and Department of Radiology, Walter Reed National Military Medical Center, Bethesda, Md (M.A.P.)
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11
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Napolitano M, Venturelli M, Molinaro E, Toss A. NUT midline carcinoma of the head and neck: current perspectives. Onco Targets Ther 2019; 12:3235-3244. [PMID: 31118674 PMCID: PMC6501778 DOI: 10.2147/ott.s173056] [Citation(s) in RCA: 42] [Impact Index Per Article: 7.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/15/2019] [Accepted: 03/12/2019] [Indexed: 12/22/2022] Open
Abstract
Abstract: NUT midline carcinoma (NMC) is a rare and aggressive subtype of squamous carcinoma that typically arises from midline supradiaphragmatic structures, frequently from the head and neck area. NMC is genetically driven by a chromosomal rearrangement involving the NUT gene, which forms oncoproteins considered major pathogenic drivers of cellular transformation. Diagnosis of NMC has been made remarkably easier with the availability of a commercial antibody against NUT, and can be established through positive nuclear immunohistochemical staining. Although NMC remains an underrecognized malignancy, in recent years there has appeared to be increasing awareness of disease and frequency of diagnosis in adults. To date, a standard treatment for head and neck NMC has not been established and a multimodal approach with systemic chemotherapy, surgery and radiation therapy is currently adopted in clinical practice. Recently, BET inhibitors and histone deacetylase inhibitors have emerged as two promising classes of targeted agents, currently investigated in clinical trials for adults with head and neck NMC. At the same time, combination approaches and novel targeted agents, such as next-generation BET inhibitors and CDK9 inhibitors, have shown preclinical activity. The present review explores the clinical pathological characteristics of NMC of the head and neck and presents the current state of the art on diagnosis, prognosis, and treatment of this rare but lethal disease.
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Affiliation(s)
- M Napolitano
- Department of Oncology and Hematology, University Hospital of Modena, Modena, Italy
| | - M Venturelli
- Department of Oncology and Hematology, University Hospital of Modena, Modena, Italy
| | - E Molinaro
- Department of Oncology and Hematology, University Hospital of Modena, Modena, Italy
| | - A Toss
- Department of Oncology and Hematology, University Hospital of Modena, Modena, Italy
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12
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Elkhatib SK, Neilsen BK, Sleightholm RL, Baine MJ, Zhen W. A 47-year-old woman with nuclear protein in testis midline carcinoma masquerading as a sinus infection: a case report and review of the literature. J Med Case Rep 2019; 13:57. [PMID: 30853030 PMCID: PMC6410502 DOI: 10.1186/s13256-019-2015-x] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/08/2018] [Accepted: 02/13/2019] [Indexed: 12/19/2022] Open
Abstract
BACKGROUND Nuclear protein in testis midline carcinoma is a rare, highly metastatic undifferentiated carcinoma that typically arises in midline structures and is characterized by having a fusion involving the nuclear protein in testis, NUT, gene. Nuclear protein in testis midline carcinoma has been identified in patients of all ages and is often initially misdiagnosed due to the rapid timeline of symptom onset. CASE PRESENTATION Here we report the case of a 47-year-old Caucasian woman with a nuclear protein in testis midline carcinoma that was initially mistaken for a sinus infection. After symptom progression while on an aggressive antibiotic regimen, the source of her symptoms was correctly identified as a sella mass. Comprehensive analysis of the tumor was performed, and standard cytogenetic analysis identified a translocation of 15q and 19p. Further testing identified a NUT-BRD4 fusion and confirmed the diagnosis of nuclear protein in testis midline carcinoma. Despite definitive diagnosis and surgical, radiation, and, ultimately, systemic therapy, she progressed rapidly, developing widespread metastases, and ultimately died from the disease 5 months after diagnosis. CONCLUSIONS Based on this and other previous reports, aggressive therapy should be initiated once nuclear protein in testis midline carcinoma is diagnosed and close surveillance employed in an attempt to prevent and/or recognize metastases as early as possible. Aggressive therapy has shown little efficacy such that the average overall survival for patients with nuclear protein in testis midline carcinoma is very short, often less than 6 months. Thus, early enrollment into clinical trials testing novel therapies for the treatment of nuclear protein in testis midline carcinoma should be considered. Finally, additional reports of nuclear protein in testis midline carcinoma are needed to fully characterize this rare and highly aggressive cancer.
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Affiliation(s)
- Safwan K Elkhatib
- Department of Radiation Oncology, 986861 Nebraska Medical Center, University of Nebraska Medical Center, Omaha, NE, 68198-686, USA
| | - Beth K Neilsen
- Department of Radiation Oncology, 986861 Nebraska Medical Center, University of Nebraska Medical Center, Omaha, NE, 68198-686, USA
| | - Richard L Sleightholm
- Department of Radiation Oncology, 986861 Nebraska Medical Center, University of Nebraska Medical Center, Omaha, NE, 68198-686, USA
| | - Michael J Baine
- Department of Radiation Oncology, 986861 Nebraska Medical Center, University of Nebraska Medical Center, Omaha, NE, 68198-686, USA.
| | - Weining Zhen
- Department of Radiation Oncology, 986861 Nebraska Medical Center, University of Nebraska Medical Center, Omaha, NE, 68198-686, USA
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13
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Primary Pulmonary NUT Midline Carcinoma: Clinical, Radiographic, and Pathologic Characterizations. J Thorac Oncol 2016; 10:951-9. [PMID: 26001144 DOI: 10.1097/jto.0000000000000545] [Citation(s) in RCA: 89] [Impact Index Per Article: 9.9] [Reference Citation Analysis] [Abstract] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/22/2022]
Abstract
NUT midline carcinoma (NMC) is a poorly differentiated tumor typically driven by a t(15;19) rearrangement leading to a NUT fusion event. This rare and uniformly fatal tumor arises in multiple organ sites; however the clinical, radiographic, and pathologic characteristics of primary pulmonary NMC are poorly defined. We identified eight cases of primary pulmonary NMC in our consult practice over 4 years and, using a NUT immunohistochemistry screen, retrospectively identified one additional case from 166 (0.6%) consecutive in-house biopsies of lung carcinomas lacking glandular differentiation. Eight cases had available clinical and radiographic data and shared a remarkable degree of similarity. The median age at presentation was 30 (range 21-68). Six patients had little or no smoking history. All complained of 1 to 3 months of cough at presentation. Computed tomography scans showed a large, centrally located primary mass with confluent involvement of mediastinal lymph nodes, pleural disease, and sparing of the contralateral lung. Lytic bone metastases were common but brain metastases were absent in all cases. Pathologically, all cases showed primitive-appearing round to epitheloid cells growing in nests and sheets. All tumors expressed keratin, p63 or p40, and NUT protein. Eight cases had a fluorescence in situ hybridization-proven BRD4-NUT or BRD3-NUT rearrangement; one case was presumed to have a NUT-variant fusion event. Median overall survival was 2.2 months. Despite the rarity of primary pulmonary NMC, it is important to recognize this entity to counsel patients regarding outcome and to identify candidates for targeted BRD inhibitors currently in clinical trials.
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14
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Imaging Evaluation of Mediastinal Masses in Children and Adults: Practical Diagnostic Approach Based on A New Classification System. J Thorac Imaging 2016; 30:247-67. [PMID: 26086589 DOI: 10.1097/rti.0000000000000161] [Citation(s) in RCA: 25] [Impact Index Per Article: 2.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/19/2022]
Abstract
A compartmental approach to the diagnosis of the mediastinal masses in children and adults has been widely used to facilitate the diagnosis and planning of diagnostic interventions and surgical treatment for many years. Recently, a new computed tomography-based mediastinal division scheme, approved by the International Thymic Malignancy Interest Group, has received considerable attention as a potential new standard. In this review article, this new computed tomography-based mediastinal division scheme is described and illustrated. In addition, currently used imaging modalities and techniques, practical imaging algorithm of evaluating mediastinal masses, and characteristic imaging findings of various mediastinal masses that occur in children and adults are discussed. Such up-to-date knowledge has the potential to facilitate better understanding of mediastinal masses in both pediatric and adult populations.
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15
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Harms A, Herpel E, Pfarr N, Penzel R, Heussel CP, Herth FJF, Dienemann H, Weichert W, Warth A. NUT carcinoma of the thorax: Case report and review of the literature. Lung Cancer 2015; 90:484-91. [PMID: 26490121 DOI: 10.1016/j.lungcan.2015.10.001] [Citation(s) in RCA: 27] [Impact Index Per Article: 2.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/01/2015] [Revised: 09/14/2015] [Accepted: 10/03/2015] [Indexed: 12/22/2022]
Abstract
NUT (nuclear protein in testis) carcinomas are exceedingly rare neoplasms with specific molecular alterations and often follow a devastating course. Thus, a precise early diagnosis is of utmost importance. Known from the sinonasal region for years, the new 2015 WHO classification now also recognizes the existence of this entity in the thorax, specifically the lungs and the mediastinum. However, yet available data on this entity are sparse. Here, we report on a 31 years old female patient with an aggressively growing tumor localized in the median line that was initially sampled by endobronchial ultrasound-guided transbronchial biopsies. Pathological assessment of the biopsy specimens revealed a NUT carcinoma with typical morphological characteristics and an uncommon NUT translocation variant with a NSD3-NUT fusion. Diagnosis was further confirmed in the subsequent resection specimen. We describe specific clinical, histomorphological, and molecular characteristics of this tumor and provide a comprehensive review of the current literature on these rare neoplasms.
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Affiliation(s)
- Alexander Harms
- Institute of Pathology, University Hospital Heidelberg, Germany
| | - Esther Herpel
- Institute of Pathology, University Hospital Heidelberg, Germany
| | - Nicole Pfarr
- Institute of Pathology, University Hospital Heidelberg, Germany
| | - Roland Penzel
- Institute of Pathology, University Hospital Heidelberg, Germany
| | - Claus-Peter Heussel
- Department of Diagnostic and Interventional Radiology with Nuclear Medicine, Thoraxklinik at Heidelberg University, Germany; Department of Diagnostic and Interventional Radiology, University Hospital Heidelberg, Germany
| | - Felix J F Herth
- Department of Pneumology and Respiratory Critical Care Medicine, Thoraxklinik at Heidelberg University, Germany
| | - Hendrik Dienemann
- Department of Thoracic Surgery, Thoraxklinik at Heidelberg University, Germany
| | - Wilko Weichert
- Institute of Pathology, University Hospital Heidelberg, Germany; National Center for Tumor Diseases (NCT), Heidelberg, Germany
| | - Arne Warth
- Institute of Pathology, University Hospital Heidelberg, Germany.
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16
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Kawase T, Naka G, Kubota K, Sakashita B, Takeda Y. NUT Midline Carcinoma in Elderly Patients. Clin Nucl Med 2015; 40:764-5. [DOI: 10.1097/rlu.0000000000000795] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/25/2022]
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17
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Shaikh F, Pagedar N, Awan O, McNeely P. Sinonasal NUT-Midline Carcinoma - A Multimodality Approach to Diagnosis, Staging and Post-Surgical Restaging. Cureus 2015; 7:e288. [PMID: 26244120 PMCID: PMC4523209 DOI: 10.7759/cureus.288] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/18/2015] [Accepted: 07/26/2015] [Indexed: 01/24/2023] Open
Abstract
Nuclear protein testis (NUT) midline carcinoma is a rare malignancy involving predominantly the midline structures of the body. It is characterized by its genotypic feature of BRD4-NUT translocation, which is in contrast with other malignant processes that are usually categorized based on their histologic/phenotypic features. As these tumors may vary in their histologic presentation, they can be misdiagnosed as poorly differentiated carcinomas. Moreover, they are often very aggressive and associated with high mortality. Therefore, it is extremely important to diagnose them early using computed tomography (CT) and magnetic resonance imaging (MRI) and perform staging and restaging using 18-fluorodeoxyglucose positron emission tomography/computed tomography (18-FDG PET/CT), in addition to accurately identifying them at a microscopic and molecular level. We report a unique case of a sinonasal NUT midline carcinoma that was diagnosed with CT, staged with PET/CT, and restaged using PET/CT and MRI.
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Affiliation(s)
- Faiq Shaikh
- Imaging Informatics, University of Pittsburgh Medical Center ; Molecular Imaging Physician, S&L Readings, LLC. ; CEO, Crunchtimr Medical Solutions, LLC
| | - Nitin Pagedar
- Otolaryngology - Head and Neck Surgery, University of Iowa Hospitals & Clinics, Iowa City, IA
| | - Omer Awan
- Department of Radiology, Dartmouth Hitchcock Medical Center
| | - Parren McNeely
- Department of Radiology, University of Iowa Hospitals & Clinics, Iowa City, IA
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18
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NUT midline carcinoma presenting with bilateral ovarian metastases: a case report. Int J Gynecol Pathol 2015; 34:136-42. [PMID: 25675182 DOI: 10.1097/pgp.0000000000000129] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/21/2022]
Abstract
Nuclear protein of the testis (NUT) midline carcinoma (NMC) is an uncommon, relatively recently characterized carcinoma, which is defined by NUT gene rearrangements. We are reporting a case of NMC in a 38-year-old female who presented with pleural effusion and bilateral ovarian masses. We also discuss some of the difficulties encountered by the practicing pathologist in reaching the diagnosis and the role of ancillary studies. Immunohistochemical staining using a commercially available monoclonal antibody showing nuclear expression of the NUT protein is diagnostic of NMC. Dual-color split-apart fluorescence in situ hybridization (FISH) or reverse transcription polymerase chain reaction (RT-PCR) can be used to characterize the fusion gene, whether BRD4-NUT or BRD3-NUT, or NUT-variant.
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19
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Ciftci E, Demirsoy U, Anik Y, Gorur G, Corapcioglu F, Demir H. Staging and evaluation of neoadjuvant chemotherapy response with 18F-FDG PET/CT in NUT-midline carcinoma in a child: A case report and review of the literature. Rev Esp Med Nucl Imagen Mol 2015. [DOI: 10.1016/j.remnie.2014.12.015] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/28/2022]
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20
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Demystifying NUT midline carcinoma: radiologic and pathologic correlations of an aggressive malignancy. AJR Am J Roentgenol 2014; 203:W391-9. [PMID: 25247968 DOI: 10.2214/ajr.13.12401] [Citation(s) in RCA: 33] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/21/2022]
Abstract
OBJECTIVE NUT midline carcinoma is a rare poorly differentiated aggressive subtype of squamous cell carcinoma. To date, fewer than 100 total cases have been reported. CONCLUSION Given the rarity of this disease process and lack of pathognomonic imaging findings, a definitive diagnosis based solely on imaging findings alone is untenable. Select cases are used to emphasize the particularly infiltrative and aggressive nature of NUT midline carcinoma, which shows a complete disregard for normal tissue boundaries and rapid progression during brief intervals.
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21
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Ciftci E, Demirsoy U, Anik Y, Gorur G, Corapcioglu F, Demir H. Staging and evaluation of neoadjuvant chemotherapy response with ¹⁸F-FDG PET/CT in NUT-midline carcinoma in a child: a case report and review of the literature. Rev Esp Med Nucl Imagen Mol 2014; 34:53-5. [PMID: 25304847 DOI: 10.1016/j.remn.2014.08.007] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/06/2014] [Revised: 08/28/2014] [Accepted: 08/30/2014] [Indexed: 12/20/2022]
Abstract
NUT midline carcinoma (NMC) is a newly defined and lethal cancer with aggressive course. It mostly affects children and young adults. Diagnosis is confirmed with the evidence of BRD4-NUT mutation on the chromosome 15q14 by fluorescence in situ hybridization. Use of (18)F-FDG PET/CT in NMC patients is very limited in the literature. In this report, we describe a 7-year-old boy with the diagnosis of NMC who was scanned with (18)F-FDG PET/CT for staging and treatment response evaluation after the chemotherapy. It was disseminated and had moderate FDG avidity in the initial scan and showed progression after 4 cycles of chemotherapy. We also reviewed the literature related to (18)F-FDG PET/CT in staging and assessment of chemotherapy response of NMC.
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Affiliation(s)
- E Ciftci
- Department of Nuclear Medicine, Faculty of Medicine, University of Kocaeli, Kocaeli, Turkey.
| | - U Demirsoy
- Department of Pediatric Oncology, Faculty of Medicine, University of Kocaeli, Kocaeli, Turkey.
| | - Y Anik
- Department of Radiology, Faculty of Medicine, University of Kocaeli, Kocaeli, Turkey.
| | - G Gorur
- Department of Nuclear Medicine, Faculty of Medicine, University of Kocaeli, Kocaeli, Turkey.
| | - F Corapcioglu
- Department of Pediatric Oncology, Faculty of Medicine, University of Kocaeli, Kocaeli, Turkey.
| | - H Demir
- Department of Nuclear Medicine, Faculty of Medicine, University of Kocaeli, Kocaeli, Turkey.
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