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1
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Liu Y, El Jabbour T, Somma J, Nakanishi Y, Ligato S, Lee H, Fu ZY. Blastomas of the digestive system in adults: A review. World J Gastrointest Surg 2024; 16:1030-1042. [PMID: 38690053 PMCID: PMC11056657 DOI: 10.4240/wjgs.v16.i4.1030] [Citation(s) in RCA: 1] [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: 01/01/2024] [Revised: 02/03/2024] [Accepted: 03/25/2024] [Indexed: 04/22/2024] Open
Abstract
Blastomas, characterized by a mixture of mesenchymal, epithelial, and undifferentiated blastematous components, are rare malignant neoplasms originating from precursor blast cells. This review focuses on digestive system blastomas in adult patients, including gastroblastoma, hepatoblastoma, and pancreatoblastoma. Gastroblastoma is a biphasic, epitheliomesenchymal tumor, with only sixteen cases reported to date. In addition to the characteristic histology, metastasis-associated lung adenocarcinoma transcript 1 - glioma-associated oncogene homolog 1 gene fusion is typical, although recently novel ewing sarcoma breakpoint region 1 - c-terminal binding protein 1 and patched 1 - glioma-associated oncogene homolog 2 fusions have been described. Hepatoblastoma is exceptionally rare in adults and can show a variety of histologic patterns which may cause diagnostic difficulty. Pancreatoblastoma, primarily a pediatric tumor, displays acinar differentiation and squamoid nests with other lines of differentiation also present, especially neuroendocrine. Diagnostic approaches for these blastomas include a combination of imaging modalities, histopathological examination, and molecular profiling. The treatment generally involves surgical resection, which may be supplemented by chemotherapy or radiotherapy in some cases. Prognoses vary with gastroblastoma generally showing favorable outcomes post-surgery whereas hepatoblastoma and pancreatoblastoma often have poorer outcomes, particularly in the setting of metastases. This review highlights the complexity of diagnosing and managing these rare adult blastomas as well as the need for ongoing research to better understand their pathogenesis and improve treatment strategies.
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Affiliation(s)
- Yu Liu
- Department of Pathology, LSU Health Sciences Center School of Medicine, New Orleans, LA 70112, United States
| | - Tony El Jabbour
- Department of Pathology, Hartford HealthCare, Hartford, CT 06102, United States
| | - Jonathan Somma
- Department of Pathology, LSU Health Sciences Center School of Medicine, New Orleans, LA 70112, United States
| | - Yukihiro Nakanishi
- Department of Pathology, Moffitt Cancer Center, Tampa, FL 33612, United States
| | - Saverio Ligato
- Department of Pathology, Hartford HealthCare, Hartford, CT 06102, United States
| | - Hwajeong Lee
- Department of Pathology and Laboratory Medicine, Albany Medical Center, Albany, NY 12208, United States
| | - Zhi-Yan Fu
- Department of Pathology, LSU Health Sciences Center School of Medicine, New Orleans, LA 70112, United States
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Thompson ED, Wood LD. Pancreatic Neoplasms With Acinar Differentiation: A Review of Pathologic and Molecular Features. Arch Pathol Lab Med 2021; 144:808-815. [PMID: 31869246 DOI: 10.5858/arpa.2019-0472-ra] [Citation(s) in RCA: 25] [Impact Index Per Article: 6.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 11/01/2019] [Indexed: 12/11/2022]
Abstract
CONTEXT.— Pancreatic acinar lesions encompass a broad spectrum of malignant tumors and benign reactive processes affecting both adults and children, with clinical, pathologic, and molecular features that are distinct from more common ductal neoplasms. Accurate morphologic diagnosis and molecular assessment of these uncommon neoplasms is critical for effective patient care. OBJECTIVE.— To review the clinical, pathologic, and molecular features of pancreatic neoplasms with acinar differentiation, the most common of which is acinar cell carcinoma but which also includes mixed carcinomas with acinar components, cystic acinar lesions, and pancreatoblastoma. DATA SOURCES.— We assessed the current primary literature, as well as recently updated diagnostic manuals. CONCLUSIONS.— Pancreatic acinar neoplasms are a morphologically and molecularly heterogeneous group of diseases that are characterized by acinar differentiation of at least a subset of the neoplastic cells, defined either morphologically (granular cytoplasm, single prominent nucleoli) or immunohistochemically. Squamoid nests are a key morphologic feature of pancreatoblastoma. Alterations in WNT signaling and chromosomal 11p loss are common molecular features of both acinar cell carcinoma and pancreatoblastoma. Targetable molecular alterations in acinar carcinoma include BRAF rearrangements and DNA repair defects, including mismatch repair deficiency and BRCA pathway defects. For practicing pathologists, morphologic recognition of such acinar neoplasms is critical, and in the future, molecular diagnostics to identify lesions susceptible to targeted therapy will likely form an important component of patient care.
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Affiliation(s)
- Elizabeth D Thompson
- From the Department of Pathology, Sol Goldman Pancreatic Cancer Research Center, and the Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland
| | - Laura D Wood
- From the Department of Pathology, Sol Goldman Pancreatic Cancer Research Center, and the Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland
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3
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Niger M, Prisciandaro M, Antista M, Monica MAT, Cattaneo L, Prinzi N, Manglaviti S, Nichetti F, Brambilla M, Torchio M, Corti F, Pusceddu S, Coppa J, Mazzaferro V, de Braud F, Di Bartolomeo M. One size does not fit all for pancreatic cancers: A review on rare histologies and therapeutic approaches. World J Gastrointest Oncol 2020; 12:833-849. [PMID: 32879662 PMCID: PMC7443847 DOI: 10.4251/wjgo.v12.i8.833] [Citation(s) in RCA: 12] [Impact Index Per Article: 2.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/31/2020] [Revised: 05/01/2020] [Accepted: 05/20/2020] [Indexed: 02/05/2023] Open
Abstract
Exocrine pancreatic neoplasms represent up to 95% of pancreatic cancers (PCs) and are widely recognized among the most lethal solid cancers, with a very poor 5-year survival rate of 5%-10%. The remaining < 5% of PCs are neuroendocrine tumors that are usually characterized by a better prognosis, with a median overall survival of 3.6 years. The most common type of PC is pancreatic ductal adenocarcinoma (PDAC), which accounts for roughly 85% of all exocrine PCs. However up to 10% of exocrine PCs have rare histotypes, which are still poorly understood. These subtypes can be distinguished from PDAC in terms of pathology, imaging, clinical presentation and prognosis. Additionally, due to their rarity, any knowledge regarding these specific histotypes is mostly based on case reports and a small series of retrospective analyses. Therefore, treatment strategies are generally deduced from those used for PDAC, even if these patients are often excluded or not clearly represented in clinical trials for PDAC. For these reasons, it is essential to collect as much information as possible on the management of PC, as assimilating it with PDAC may lead to the potential mistreatment of these patients. Here, we report the most significant literature regarding the epidemiology, typical presentation, possible treatment strategies, and prognosis of the most relevant histotypes among rare PCs.
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Affiliation(s)
- Monica Niger
- Medical Oncology Department, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan 20133, Italy
| | - Michele Prisciandaro
- Medical Oncology Department, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan 20133, Italy
| | - Maria Antista
- Medical Oncology Department, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan 20133, Italy
| | - Melissa Anna Teresa Monica
- First Pathology Division, Department of Pathology and Laboratory Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan 20133, Italy
| | - Laura Cattaneo
- First Pathology Division, Department of Pathology and Laboratory Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan 20133, Italy
| | - Natalie Prinzi
- Medical Oncology Department, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan 20133, Italy
| | - Sara Manglaviti
- Medical Oncology Department, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan 20133, Italy
| | - Federico Nichetti
- Medical Oncology Department, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan 20133, Italy
| | - Marta Brambilla
- Medical Oncology Department, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan 20133, Italy
| | - Martina Torchio
- Medical Oncology Department, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan 20133, Italy
| | - Francesca Corti
- Medical Oncology Department, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan 20133, Italy
| | - Sara Pusceddu
- Medical Oncology Department, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan 20133, Italy
| | - Jorgelina Coppa
- Hepato-biliary-pancreatic Surgery and Liver Transplantation Department, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan 20133, Italy
| | - Vincenzo Mazzaferro
- Hepato-biliary-pancreatic Surgery and Liver Transplantation Department, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan 20133, Italy
- Università degli studi di Milano, Milan 20133, Italy
| | - Filippo de Braud
- Medical Oncology Department, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan 20133, Italy
- Università degli studi di Milano, Milan 20133, Italy
| | - Maria Di Bartolomeo
- Medical Oncology Department, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan 20133, Italy
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4
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Zhang X, Ni SJ, Wang XH, Huang D, Tang W. Adult pancreatoblastoma: clinical features and Imaging findings. Sci Rep 2020; 10:11285. [PMID: 32647222 PMCID: PMC7347875 DOI: 10.1038/s41598-020-68083-2] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/20/2019] [Accepted: 06/16/2020] [Indexed: 12/17/2022] Open
Abstract
The objective of this study was to illustrate the clinical, CT, MRI, and 18F-FDG PET/CT features of adult pancreatoblastoma, an extremely rare disease. In this study, the clinical and imaging features of seven adult patients with pathologically confirmed pancreatoblastoma were retrospectively analyzed. The following parameters were evaluated: size, location, shape, margination, solid-cystic ratio, CT attenuation values or signal intensity and contrast enhancement pattern. We also analyzed whether abnormal FDG uptake occurred during 18F-FDG PET/CT imaging. All seven patients were male (mean age 45 years; range 22–65 years). Six tumors were irregular in shape, exogenous, and grew outward from the pancreatic parenchyma, similar to branches growing from a tree trunk (85.7%). The tumor margins were clear in five patients (71.4%), and three tumors (42.9%) were encapsulated. Six tumors (71.4%) were solid, with homogeneous enhancement observed on contrast-enhanced CT and MRI. Dynamic-enhanced CT and MRI showed progressive enhancement for all tumors. On 18F-FDG PET/CT, one tumor exhibited abnormal FDG uptake, and two tumors exhibited no abnormal uptake (66.7%). In conclusion, adult pancreatoblastoma most commonly occurs in male patients, and it usually appears as an exophytic, irregular, and hypovascular mass with well-defined margins and progressive enhancement on CT and MRI. This type of tumor always grows out of the parenchyma of the pancreas, similar to branches growing outward from a tree trunk.
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Affiliation(s)
- Xi Zhang
- Department of Radiology, Fudan University Shanghai Cancer Center, 270 Dongan Road, Shanghai, 200032, China. .,Department of Oncology, Shanghai Medical College of Fudan University, Shanghai, China.
| | - Shu-Juan Ni
- Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China.,Department of Oncology, Shanghai Medical College of Fudan University, Shanghai, China
| | - Xiao-Hong Wang
- Department of Radiology, Fudan University Shanghai Cancer Center, 270 Dongan Road, Shanghai, 200032, China.,Department of Oncology, Shanghai Medical College of Fudan University, Shanghai, China
| | - Dan Huang
- Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China.,Department of Oncology, Shanghai Medical College of Fudan University, Shanghai, China
| | - Wei Tang
- Department of Radiology, Fudan University Shanghai Cancer Center, 270 Dongan Road, Shanghai, 200032, China.,Department of Oncology, Shanghai Medical College of Fudan University, Shanghai, China
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Abstract
Nonductal pancreatic neoplasms, including solid pseudopapillary neoplasms, acinar cell carcinomas, and pancreatoblastomas, are uncommon. These entities share overlapping gross, microscopic, and immunohistochemical features, such as well-demarcated solid neoplasms, monotonous cellular tumor cells with little intervening stroma, and abnormal beta-catenin expression. Each tumor also has unique clinicopathologic characteristics with diverse clinical behavior. To differentiate nonductal pancreatic neoplasms, identification of histologic findings, such as pseudopapillae, acinar cell features, and squamoid corpuscles, is important. Immunostainings for acinar cell or neuroendocrine markers are helpful for differential diagnosis. This article describes the clinicopathologic and immunohistochemical features of nonductal pancreatic cancers.
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6
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Vilaverde F, Reis A, Rodrigues P, Carvalho A, Scigliano H. Adult pancreatoblastoma - Case report and review of literature. J Radiol Case Rep 2016; 10:28-38. [PMID: 27761191 DOI: 10.3941/jrcr.v10i8.2737] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/27/2022] Open
Abstract
Most cases of pancreatoblastoma, a rare malignant epithelial tumor of the pancreas, are seen in the pediatric population. The rarity of pancreatoblastoma, the similar radiologic findings to those seen in other pancreatic lesions, and its histopathologic heterogeneity, make its preoperative diagnosis in adults a real challenge. We report ultrasound, computed tomography and magnetic resonance imaging correlative findings of a histologically proven pancreatoblastoma in a 37-year-old woman. Pancreatoblastoma should be considered in the differential diagnosis of a pancreatic mass presenting uncommon imaging features.
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Affiliation(s)
- Filipa Vilaverde
- Department of Radiology, Centro Hospitalar de Entre o Douro e Vouga, Feira, Portugal
| | - Alcinda Reis
- Department of Radiology, Centro Hospitalar de Entre o Douro e Vouga, Feira, Portugal
| | - Pedro Rodrigues
- Department of Surgery, Centro Hospitalar de Entre o Douro e Vouga, Feira, Portugal
| | - Ana Carvalho
- Department of Pathologic Anatomy, Centro Hospitalar de Lisboa Central - Hospital Curry Cabral, Lisboa, Portugal
| | - Horácio Scigliano
- Laboratório de Anatomia Patológica Dr. Albino Oliveira Lda, Centro Hospitalar de Entre o Douro e Vouga, Feira, Portugal
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7
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Omiyale AO. Clinicopathological review of pancreatoblastoma in adults. Gland Surg 2015; 4:322-8. [PMID: 26312218 DOI: 10.3978/j.issn.2227-684x.2015.04.05] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/21/2015] [Accepted: 03/24/2015] [Indexed: 12/23/2022]
Abstract
Pancreatoblastoma (PB) is a rare malignant neoplasm of the pancreas with unknown etiology. It occurs mostly in the pediatric population with very rare documented cases in adults. This is a review of the case reports of the adult pancreatoblastoma in the literature. A total of 35 cases were identified and reviewed with the mean age of 41 years (range, 18-78 years) and the male sex accounted for 51.4% of the cases. Adult Pancreatoblastoma seem to have a predilection for the head of the pancreas which accounted for approximately 49% of the cases reviewed with an average size of 8 cm (range, 1.8-20 cm). The median follow up for patients was 15 months (range, 1-108 months) Metastatic disease and local infiltration of surrounding tissues is common with poor prognosis in adult patients. Preoperative diagnosis is difficult because of the unhelpful tumor markers in adults and the cellular heterogeneity of the tumor which makes fine needle aspiration cytology unreliable. Histopathological review of the tumor is essential for diagnosis. Pancreatoblastomas should be considered a differential diagnosis of solid and cystic pancreatic neoplasms. Surgical resection of the tumor is the treatment of choice with a variable combination with radiotherapy and chemotherapy.
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8
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Abstract
Pancreatoblastoma is a rare pancreatic tumor. In this study, 3 cases of childhood pancreatoblastoma that arise from the tail of the pancreas were reported. Abdominal pain and vomiting were observed in 1 case considering the huge size of the tumor. The other 2 patients, who were previously well, complained of a mass in the abdomen after a casual physical examination. Elevated serum α-fetoprotein levels were noted in all cases. Imaging findings indicated a well-defined heterogeneous large mass in the left retroperitoneal space. Exploratory laparotomy revealed a large mass, arising from the tail of the pancreas. Surgery alone with complete excision of the masses was performed. Immunohistochemical staining showed that only α-fetoprotein was positive in all cases. All of these 3 cases have a good outcome in the follow-up without adjuvant chemotherapy. These data suggest that the diagnosis of pancreatoblastoma is difficult and should be suspected at palpation of an abdominal mass. α-Fetoprotein may serve as a tumor marker for preoperative diagnosis and postoperative recurrence. Pancreatoblastoma arising from the tail of the pancreas is a curable tumor, and adjuvant chemotherapy may not be necessary if the tumor can be excised completely.
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9
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Le pancréatoblastome chez l'enfant : du diagnostic à la prise en charge thérapeutique. Bull Cancer 2012; 99:793-9. [DOI: 10.1684/bdc.2012.1600] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/17/2022]
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10
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Abstract
Pancreatoblastoma is a very rare childhood tumor originating from the epithelial exocrine cells of the pancreas. It is the most common malignant pancreatic tumor in young children and has a mean age of diagnosis of 5 years. It is slow growing and its presentation is varied and often non-specific. Tumors tend to be quite large and appropriate cross sectional imaging is very important to assess for extent, metastatic disease, and resectability. Biopsy for tissue diagnosis is essential. Complete surgical resection is the goal of therapy although many patients are unresectable at initial diagnosis and require neoadjuvant chemotherapy. Adjuvant chemotherapy is also recommended and chemotherapeutic regimens involve cisplatin and doxorubicin. Even with curative resections, these lesions have a high recurrence rate and patients must be followed closely. Knowledge of this rare tumor is important for the clinician confronted with a large retroperitoneal mass in a young child.
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11
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Serum tumor markers in pancreatic cancer-recent discoveries. Cancers (Basel) 2010; 2:1107-24. [PMID: 24281109 PMCID: PMC3835121 DOI: 10.3390/cancers2021107] [Citation(s) in RCA: 38] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/24/2010] [Revised: 05/21/2010] [Accepted: 05/24/2010] [Indexed: 12/25/2022] Open
Abstract
The low prevalence of pancreatic cancer remains an obstacle to the development of effective screening tools in an asymptomatic population. However, development of effective serologic markers still offers the potential for improvement of diagnostic capabilities, especially for subpopulations of patients with high risk for pancreatic cancer. The accurate identification of patients with pancreatic cancer and the exclusion of disease in those with benign disorders remain important goals. While clinical experience largely dismissed many candidate markers as useful markers of pancreatic cancer, CA19-9 continues to show promise. The present review highlights the development and the properties of different tumor markers in pancreatic cancer and their impact on the diagnostic and treatment of this aggressive disease.
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12
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Abstract
OBJECTIVE This study aimed to evaluate the cross-sectional imaging features of solid pseudopapillary tumor of the pancreas (SPTP) with pathologic correlation. METHODS Imaging features of 29 cases with SPTP proven by histopathologic examinations, including 26 women and 3 men with a mean age of 27 years, were retrospectively investigated and correlated to their pathologic findings. According to the largest diameter, all cases were divided into 23 large tumors (>3.0 cm) and 6 small ones (< or =3.0 cm). RESULTS Large tumors commonly displayed the typical imaging features: a large well-encapsulated mass with varying solid-cystic and hemorrhagic areas and early peripheral heterogeneous enhancement with progressive fill-in on dynamic contrast-enhanced examination, which agreed with their pathologic findings: a large fibrous pseudocapsule-surrounded mass with variegated and variable combinations of solid, hemorrhagic, or cystic-necrotic areas in cut surface. The computed tomographic and magnetic resonance imaging features of small tumors were atypical: a small rarely encapsulated mass without observed hemorrhagic areas and cystic changes with gradual enhancement less than normal pancreatic parenchyma on dynamic contrast-enhanced images. CONCLUSIONS Imaging appearances were different between large and small SPTPs. Compared with computed tomography, magnetic resonance imaging was more powerful to identify the capsule, solid-cystic portions, and hemorrhagic areas of SPTP and to avoid misdiagnosis.
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13
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Cavallini A, Falconi M, Bortesi L, Crippa S, Barugola G, Butturini G. Pancreatoblastoma in adults: a review of the literature. Pancreatology 2008; 9:73-80. [PMID: 19077457 DOI: 10.1159/000178877] [Citation(s) in RCA: 35] [Impact Index Per Article: 2.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/11/2022]
Abstract
BACKGROUND Pancreatoblastoma is a very uncommon neoplasm in adults and its management represents a great challenge with regards to different treatment options. Given the rarity of the disease, the aim of this study was to review our personal experience with adult pancreatoblastoma as well as the cases reported in the literature in order to support clinicians observing this entity. METHODS Adult patients with histologically proven pancreatoblastoma were identified from our prospective database of pancreatic resections. After a search on the Medline database, a review of all cases was performed as well, focusing on clinical, radiological and hystopathological features and treatment options. RESULTS At our Institution, 2 adult males, 26 and 69 years old, underwent successful pancreatic resection for pancreatoblastoma. The diagnosis of pancreatoblastoma mainly depends on the pathological findings characterized by squamoid corpuscles at histopathology. Only 21 cases of adult pancreatoblastoma have been identified in the literature. In general, despite aggressive treatment, pancreatoblastoma in adults is associated with poorer outcome than in children, with a median survival time of 18.5 months. Both our patients are disease free after 15 months (case 2) and 51 months (case 1). The latter represents the most successful result in long-term disease-free survival. CONCLUSION Pancreatoblastoma is a rare neoplasm in adults. The differential diagnosis includes nonfunctional pancreatic endocrine tumor, acinar cell carcinoma, solid pseudopapillary tumor and adenocarcinoma. Surgical resection is the only treatment associated with long-term survival. Chemotherapy may play a role as palliative treatment in advanced disease.
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14
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Childhood pancreatoblastoma: Clinical features and immunohistochemistry analysis. Cancer Lett 2008; 264:119-26. [DOI: 10.1016/j.canlet.2008.01.026] [Citation(s) in RCA: 16] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/29/2007] [Revised: 01/15/2008] [Accepted: 01/15/2008] [Indexed: 11/20/2022]
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15
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Muguerza R, Rodriguez A, Formigo E, Montero M, Vázquez JL, Páramo C, Campos C. Pancreatoblastoma associated with incomplete Beckwith-Wiedemann syndrome: case report and review of the literature. J Pediatr Surg 2005; 40:1341-4. [PMID: 16080945 DOI: 10.1016/j.jpedsurg.2005.05.025] [Citation(s) in RCA: 23] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/01/2022]
Abstract
A case of pancreatoblastoma (PB) in a 2 month-old male infant with incomplete Beckwith-Wiedemann syndrome is presented. Clinical examination disclosed left hemihypertrophy, macroglossia, bilateral exophthalmos, and enlargement of the left testis. Imaging with ultrasound and computed tomography scan showed a well-defined, heterogeneous, and grossly cystic mass arising from the head of the pancreas. Serum alpha-fetoprotein (AFP) level was elevated. The tumor was completely resected, and the histological analysis showed PB. The patient's recovery was uneventful, and AFP returned to normal values after surgery. The child has been disease-free for 5 years, and his serum AFP remained within normal values. Six other examples of this association, PB, and Beckwith-Wiedemann syndrome are recorded in the literature. The risk of developing tumor in this syndrome (complete and incomplete form) increases when hemihypertrophy is present, and the need for routine screening examination is warranted. Beckwith-Wiedemann syndrome was suggested to be a favorable biological marker for survival in children who have intraabdominal tumors.
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Affiliation(s)
- Rosa Muguerza
- Department of Pediatric Surgery, Complejo Hospitalario Xeral-Cíes, Pizarro 22, 36204 Vigo, Spain.
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16
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Rosebrook JL, Glickman JN, Mortele KJ. Pancreatoblastoma in an adult woman: sonography, CT, and dynamic gadolinium-enhanced MRI features. AJR Am J Roentgenol 2005; 184:S78-81. [PMID: 15728031 DOI: 10.2214/ajr.184.3_supplement.01840s78] [Citation(s) in RCA: 20] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/05/2023]
Affiliation(s)
- Joshua L Rosebrook
- Division of Abdominal Imaging and Intervention, Department of Radiology, Brigham and Women's Hospital, Harvard Medical School, 75 Francis St., Boston, MA 02115, USA
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17
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Dhebri AR, Connor S, Campbell F, Ghaneh P, Sutton R, Neoptolemos JP. Diagnosis, treatment and outcome of pancreatoblastoma. Pancreatology 2004; 4:441-51; discussion 452-3. [PMID: 15256806 DOI: 10.1159/000079823] [Citation(s) in RCA: 87] [Impact Index Per Article: 4.1] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/12/2003] [Accepted: 12/10/2003] [Indexed: 12/11/2022]
Abstract
BACKGROUND Pancreatoblastoma is a rare tumour mainly presenting in childhood but also in adults. OBJECTIVES The aim was to determine the clinical course of pancreatoblastoma by an analysis of reported cases. METHODS Patients with pancreatoblastoma were identified from Medline and combined with patients identified from the Royal Liverpool University Hospital. RESULTS There were 153 patients with a median (range) age at presentation of 5 (0-68) years and a male:female ratio of 1.14:1. The most frequent site was the head of pancreas (48/123, 39%). The median and 5-year (95% CI) survival rates were 48 months and 50% (37-62%) respectively. At presentation there were 17 (17%) out of 101 patients with metastases, the liver being the commonest site (15/17, 88%). On univariate analysis, factors associated with a worse prognosis were synchronous (p = 0.05) or metachronous metastases (p < 0.001), non-resectable disease at presentation (p < 0.001) and age > 16 years at time of presentation (p = 0.02). On multivariate analysis, resection (p = 0.006) and metastases post-resection (p = 0.001) but not local recurrence influenced survival. CONCLUSIONS Pancreatoblastoma is one of the pancreatic tumours with a relatively good prognosis. The treatment of choice is complete resection with long-term follow-up aiming to treat any early local recurrence or metastasis.
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Affiliation(s)
- A R Dhebri
- Department of Surgery, University of Liverpool, Royal Liverpool University Hospital, Liverpool, UK
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18
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Benya EC. Pancreas and biliary system: imaging of developmental anomalies and diseases unique to children. Radiol Clin North Am 2002; 40:1355-62. [PMID: 12479715 DOI: 10.1016/s0033-8389(02)00055-6] [Citation(s) in RCA: 14] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/22/2022]
Abstract
The focus of this article is on the development of the pancreas and biliary system, with a review of the most common congenital anomalies affecting the pancreas and biliary tree, including pancreas divisum, annular pancreas, congenital shortening of the pancreas, and choledochal cysts. Additionally, biliary atresia and pancreatoblastoma--both diseases of the pancreas and biliary system that almost exclusively affect children--are considered, with a discussion regarding the clinical presentation and imaging appearances of these disorders.
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Affiliation(s)
- Ellen C Benya
- Department of Medical Imaging, Children's Memorial Hospital, 2300 Children's Plaza #9, Chicago, IL, USA.
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19
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Abraham SC, Wu TT, Hruban RH, Lee JH, Yeo CJ, Conlon K, Brennan M, Cameron JL, Klimstra DS. Genetic and immunohistochemical analysis of pancreatic acinar cell carcinoma: frequent allelic loss on chromosome 11p and alterations in the APC/beta-catenin pathway. THE AMERICAN JOURNAL OF PATHOLOGY 2002; 160:953-62. [PMID: 11891193 PMCID: PMC1867188 DOI: 10.1016/s0002-9440(10)64917-6] [Citation(s) in RCA: 223] [Impact Index Per Article: 9.7] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 12/14/2022]
Abstract
Acinar cell carcinomas (ACCs) are rare malignant tumors of the exocrine pancreas. The specific molecular alterations that characterize ACCs have not yet been elucidated. ACCs are morphologically and genetically distinct from the more common pancreatic ductal adenocarcinomas. Instead, the morphological, immunohistochemical, and clinical features of ACCs overlap with those of another rare pancreatic neoplasm, pancreatoblastoma. We have recently demonstrated a high frequency of allelic loss on chromosome arm 11p and mutations in the APC/beta-catenin pathway in pancreatoblastomas, suggesting that similar alterations might also play a role in the pathogenesis of some ACCs. We analyzed a series of 21 ACCs for somatic alterations in the APC/beta-catenin pathway and for allelic loss on chromosome 11p. In addition, we evaluated the ACCs for alterations in p53 and Dpc4 expression using immunohistochemistry, and for microsatellite instability (MSI) using polymerase chain amplification of a panel of microsatellite markers. Allelic loss on chromosome 11p was the most common genetic alteration in ACCs, present in 50% (6 of 12 informative cases). Molecular alterations in the APC/beta-catenin pathway were detected in 23.5% (4 of 17) of the carcinomas, including one ACC with an activating mutation of the beta-catenin oncogene and three ACCs with truncating APC mutations. One ACC (1 of 13, 7.6%) showed allelic shifts in four of the five markers tested (MSI-high), two (15.4%) showed an allelic shift in only one of the five markers tested (MSI-low), and no shifts were detected in the remaining 10 cases. The MSI-high ACC showed medullary histological features. In contrast, no loss of Dpc4 protein expression or p53 accumulation was detected. These results indicate that ACCs are genetically distinct from pancreatic ductal adenocarcinomas, but some cases contain genetic alterations common to histologically similar pancreatoblastomas.
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Affiliation(s)
- Susan C Abraham
- Department of Pathology, Division of GI/LiverPathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205-2196, USA.
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Abraham SC, Wu TT, Klimstra DS, Finn LS, Lee JH, Yeo CJ, Cameron JL, Hruban RH. Distinctive molecular genetic alterations in sporadic and familial adenomatous polyposis-associated pancreatoblastomas : frequent alterations in the APC/beta-catenin pathway and chromosome 11p. THE AMERICAN JOURNAL OF PATHOLOGY 2001; 159:1619-27. [PMID: 11696422 PMCID: PMC1867075 DOI: 10.1016/s0002-9440(10)63008-8] [Citation(s) in RCA: 160] [Impact Index Per Article: 6.7] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 12/14/2022]
Abstract
Pancreatoblastomas are unusual malignant neoplasms of the pediatric pancreas that may also rarely affect adults. The molecular pathogenesis of pancreatoblastomas is unknown. They are clinicopathologically distinct from adult pancreatic ductal adenocarcinomas, but their occasional occurrence in patients with Beckwith-Wiedemann syndrome and the case presented here of a pancreatoblastoma in an adult patient with familial adenomatous polyposis (FAP) suggests that they might bear a genetic similarity to other infantile embryonal tumors such as hepatoblastomas. We analyzed a series of nine pancreatoblastomas for mutations common to other embryonal malignancies including somatic alterations in the adenomatous polyposis coli (APC)/beta-catenin pathway and chromosome 11p, using immunohistochemistry for beta-catenin, 5q and 11p allelic loss assays, and direct DNA sequencing of exon 3 of the beta-catenin gene and the mutation cluster region of the APC gene. In addition, we analyzed the pancreatoblastomas for alterations found in adult-type pancreatic ductal adenocarcinomas including mutations in the K-ras oncogene and the p53 and DPC4 tumor suppressor genes, using direct DNA sequencing of exon 1 of K-ras and immunohistochemistry for p53 and Dpc4. Allelic loss on chromosome 11p was the most common genetic alteration in pancreatoblastomas, present in 86% (six of seven informative cases). Molecular alterations in the APC/beta-catenin pathway were detected in 67% (six of nine), including five neoplasms with activating mutations of the beta-catenin oncogene and the one FAP-associated tumor with biallelic APC inactivation (germline truncating mutation combined with loss of the wild-type allele); seven neoplasms showed abnormal nuclear accumulation of beta-catenin protein. In contrast, loss of Dpc4 protein expression was present in only two cases (one diffuse and one focal), and no alterations in the K-ras gene or p53 expression were detected. Our findings indicate that pancreatoblastomas are genetically distinct from the more common pancreatic ductal adenocarcinomas, but bear a close molecular pathogenesis to hepatoblastomas. In addition, pancreatoblastoma may represent an extracolonic manifestation of FAP.
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Affiliation(s)
- S C Abraham
- Division of Gastrointestinal/Liver Pathology, the Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205-2196, USA.
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