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Jenei A, Tzankov A. Diagnostic approach to leukemia cutis : A differential diagnostic step-by-step algorithm. Am J Clin Pathol 2025; 163:395-405. [PMID: 39422152 PMCID: PMC11890294 DOI: 10.1093/ajcp/aqae133] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/31/2024] [Accepted: 09/15/2024] [Indexed: 10/19/2024] Open
Abstract
OBJECTIVES Leukemia cutis is a conflicting term to describe neoplastic hematopoietic infiltrates in the skin. Cutaneous myeloid or lymphoid proliferations often present a serious differential diagnostic challenge for pathologists. METHODS This review aims to outline the confusion associated with the term leukemia cutis and discuss in detail the foremost common differential diagnoses in daily practice. The review is based on a summary of the relevant literature as well as on the authors' experience. RESULTS It addresses precursor cell myeloid and lymphoid tumors that are strictly considered true leukemia cutis but also more mature neoplasms, including some recently described mature extramedullary myeloid proliferations. Finally, a practical, comprehensive stepwise approach combining traditional immunohistochemical marker panels, novel lineage- or mutational-specific markers, and other ancillary tests is suggested to reach an entity-specific diagnosis. CONCLUSION The proper combination of ancillary techniques can help the pathologist to provide an accurate diagnosis of these challenging skin lesions.
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Affiliation(s)
- Alex Jenei
- Department of Pathology and Experimental Cancer Research Semmelweis University, Faculty of Medicine, Budapest, Hungary
| | - Alexandar Tzankov
- Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland
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2
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Gomathy SB, Kakkar A, Gupta R, Elavarasi A. Myeloblastic meningeal neoplasm: an unusual natural history. BMJ Case Rep 2024; 17:e256821. [PMID: 38191225 PMCID: PMC10806939 DOI: 10.1136/bcr-2023-256821] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 10/14/2023] [Indexed: 01/10/2024] Open
Abstract
Myeloid sarcoma is a very rare extramedullary malignant tumour, most often associated with acute myeloid leukaemia. We report the case of a man in his early 20s who presented with chronic headache, raised intracranial pressure and progressive vision loss of 2 years duration with no systemic manifestations. He had a history of myeloid sarcoma of the left thigh 15 years ago, treated with external beam radiotherapy and in complete remission for more than 13 years. However, the progressive blindness remained unexplained for 2 years, and he was eventually diagnosed with isolated meningeal relapse without marrow or systemic involvement. Imaging revealed subarachnoid haemorrhage, diffuse leptomeningeal enhancement and involvement of lower dorsal cord and conus, and cerebrospinal fluid cytology showed myeloid blasts. He was managed with intrathecal chemotherapy and craniospinal irradiation, after which he had mild improvement in vision.
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Affiliation(s)
- Saranya B Gomathy
- Neurology, All India Institute of Medical Sciences, New Delhi, Delhi, India
| | - Aanchal Kakkar
- Pathology, All India Institute of Medical Sciences, New Delhi, Delhi, India
| | - Ritu Gupta
- Laboratory Oncology, All India Institute of Medical Sciences, New Delhi, Delhi, India
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Kumarasamy S, Garg K, Sharma MC, Chandra PS. Intracranial myeloid sarcoma as the first presentation of acute myeloid leukemia and literature review. Childs Nerv Syst 2023; 39:3607-3612. [PMID: 37300577 DOI: 10.1007/s00381-023-06016-w] [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: 03/30/2023] [Accepted: 05/31/2023] [Indexed: 06/12/2023]
Abstract
INTRODUCTION Intracranial myeloid sarcoma is a rare extramedullary presentation of acute myeloid leukemia (AML). It can involve the meninges and ependyma presenting as extra-axial mass lesion. Rarely, it can also invade the brain parenchyma. It is commonly seen in children. It is usually misdiagnosed due to its close resemblance to other intracranial tumors (meningioma, metastasis, Ewing's sarcomas, and lymphoma). These are underdiagnosed if they precede the diagnosis of leukemia. CASE REPORT A 7-year-old boy with isolated intracranial myeloid sarcoma who presented with raised intracranial pressure (ICP) which was successfully managed by surgical excision. CONCLUSION Isolated intracranial myeloid sarcoma is a rare presentation of AML. Leukemia can be diagnosed early during the postoperative period and can be started on therapy timely. These patients requires regular follow-ups (clinical, laboratory and radiological) to detect relapses early.
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Affiliation(s)
- Sivaraman Kumarasamy
- Department of Neurosurgery, All India Institute of Medical Sciences, New Delhi, India
| | - Kanwaljeet Garg
- Department of Neurosurgery, All India Institute of Medical Sciences, New Delhi, India.
| | - M C Sharma
- Department of Neuropathology, All India Institute of Medical Sciences, New Delhi, India
| | - P S Chandra
- Department of Neurosurgery, All India Institute of Medical Sciences, New Delhi, India
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Li DP, Liu CZ, Jeremy M, Li X, Wang JC, Nath Varma S, Gai TT, Tian WQ, Zou Q, Wei YM, Wang HY, Long CJ, Zhou Y. Myeloid sarcoma with ulnar nerve entrapment: A case report. World J Clin Cases 2022; 10:10227-10235. [PMID: 36246824 PMCID: PMC9561602 DOI: 10.12998/wjcc.v10.i28.10227] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/28/2022] [Revised: 06/25/2022] [Accepted: 08/23/2022] [Indexed: 02/05/2023] Open
Abstract
BACKGROUND Myeloid sarcoma (MS) is relatively rare, occurring mainly in the skin and lymph nodes, and MS invasion of the ulnar nerve is particularly unusual. The main aim of this article is to present a case of MS invading the brachial plexus, causing ulnar nerve entrapment syndrome, and to further clinical understanding of the possibility of MS invasion of peripheral nerves.
CASE SUMMARY We present the case of a 46-year-old man with a 13-year history of well-treated acute nonlymphocytic leukaemia who was admitted to the hospital after presenting with numbness and pain in his left little finger. The initial diagnosis was considered a simple case of nerve entrapment disease, with magnetic resonance imaging showing slightly abnormal left brachial plexus nerve alignment with local thickening, entrapment, and high signal on compression lipid images. Due to the severity of the ulnar nerve compression, we surgically investigated and cleared the entrapment and nerve tissue hyperplasia; however, subsequent pathological biopsy results revealed evidence of MS. The patient had significant relief from his neurological symptoms, with no postoperative complications, and was referred to the haemato-oncology department for further consultation about the primary disease. This is the first report of safe treatment of ulnar nerve entrapment from MS. It is intended to inform hand surgeons that nerve entrapment may be associated with extramedullary MS, as a rare presenting feature of the disease.
CONCLUSION MS invasion of the brachial plexus and surrounding tissues of the upper arm, resulting in ulnar nerve entrapment and degeneration with significant neurological pain and numbness in the little finger, is uncommon. Surgical treatment significantly relieved the patient’s nerve entrapment symptoms and prevented further neurological impairment. This case is reported to highlight the rare presenting features of MS.
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Affiliation(s)
- Da-Peng Li
- Yantai Hospital of Shandong Wendeng Osteopathic & Traumatology, Hand and Foot Microsurgery, Yantai 264009, Shandong Province, China
| | - Chao-Zong Liu
- University College London, Royal National Orthopaedic Hospital, London HA7 4LP, United Kingdom
| | - Mortimer Jeremy
- University College London, Royal National Orthopaedic Hospital, London HA7 4LP, United Kingdom
| | - Xin Li
- Jilin Ginseng Academy, Changchun University of Chinese Medicine, Changchun 130000, Jilin Province, China
| | - Jin-Chao Wang
- Yantai Hospital of Shandong Wendeng Osteopathic & Traumatology, Hand and Foot Microsurgery, Yantai 264009, Shandong Province, China
| | - Swastina Nath Varma
- University College London, Royal National Orthopaedic Hospital, London HA7 4LP, United Kingdom
| | - Ting-Ting Gai
- Yantai Hospital of Shandong Wendeng Osteopathic & Traumatology, Hand and Foot Microsurgery, Yantai 264009, Shandong Province, China
| | - Wei-Qi Tian
- Yantai Hospital of Shandong Wendeng Osteopathic & Traumatology, Hand and Foot Microsurgery, Yantai 264009, Shandong Province, China
| | - Qi Zou
- Yantai Hospital of Shandong Wendeng Osteopathic & Traumatology, Hand and Foot Microsurgery, Yantai 264009, China
| | - Yan-Mian Wei
- Yantai Hospital of Shandong Wendeng Osteopathic & Traumatology, Hand and Foot Microsurgery, Yantai 264009, Shandong Province, China
| | - Hao-Yu Wang
- University College London, Royal National Orthopaedic Hospital, London HA7 4LP, United Kingdom
| | - Chang-Jiang Long
- Qinhai University, Medical Institute, Xining 810000, Qinhai Province, China
| | - Yu Zhou
- College of Traditional Chinese Medicine, Changchun University of Chinese Medicine, Changchun 130000, Jilin Province, China
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Athukuri P, Khan AB, Gadot R, Haque M, Lee S, Gallagher KK, Mims MP, Rivero GA, Barbieri A, Patel AJ, Jalali A. Myeloid sarcoma of the skull base: A case report and systematic literature review. Surg Neurol Int 2022; 13:220. [PMID: 35673665 PMCID: PMC9168333 DOI: 10.25259/sni_255_2022] [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: 03/15/2022] [Accepted: 05/02/2022] [Indexed: 11/16/2022] Open
Abstract
Background: Myeloid sarcoma (MS), or chloroma, is a rare extramedullary malignant tumor that consists of undifferentiated granulocytic cells, and it is most commonly associated with acute myeloid leukemia (AML). Intracranial MS accounts for 0.4% of MS cases, and involvement of the skull base and visual dysfunction is rarely reported. However, the optimal treatment and response to treatment of skull base MS in the presence of visual symptoms is unknown. Case Description: A 30-year-old male with a history of AML presented with rapidly progressive vision loss and a sellar and parasellar mass with bilateral cavernous sinus and optic nerve encasement. The patient underwent endoscopic endonasal transsphenoidal biopsy revealing intracranial MS. He was treated postoperatively with high-dose intravenous and intrathecal cytarabine and had complete restoration of his vision by postoperative day 11. A systematic review of the literature identified six cases of skull base MS, five of whom presenting with visual symptoms. All patients underwent systemic chemotherapy with cytarabine and/or cyclophosphamide, with infrequent use of intrathecal chemotherapy or radiation. Those with reported visual outcomes were diagnosed 4 months or longer after symptom onset and demonstrated no visual improvement with treatment. Conclusion: Skull base MS is a rare disease entity with a high prevalence of visual dysfunction. Our patient’s complete disappearance of intracranial disease and resolution of visual symptoms with systemic and intrathecal chemotherapy highlight the importance of timely diagnosis and appropriate treatment without a need for direct surgical decompression.
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Affiliation(s)
- Prazwal Athukuri
- Department of Neurosurgery, Baylor College of Medicine, Houston, Texas, United States
| | - A Basit Khan
- Department of Neurosurgery, Baylor College of Medicine, Houston, Texas, United States
| | - Ron Gadot
- Department of Neurosurgery, Baylor College of Medicine, Houston, Texas, United States
| | - Monira Haque
- Department of Neurosurgery, Baylor College of Medicine, Houston, Texas, United States
| | - Sungho Lee
- Department of Neurosurgery, Baylor College of Medicine, Houston, Texas, United States
| | - K Kelly Gallagher
- Department of Neurosurgery, Baylor College of Medicine, Houston, Texas, United States
| | - Martha P Mims
- Department of Neurosurgery, Baylor College of Medicine, Houston, Texas, United States
| | - Gustavo A Rivero
- Department of Neurosurgery, Baylor College of Medicine, Houston, Texas, United States
| | - Andreia Barbieri
- Department of Neurosurgery, Baylor College of Medicine, Houston, Texas, United States
| | - Akash J Patel
- Department of Neurosurgery, Baylor College of Medicine, Houston, Texas, United States
| | - Ali Jalali
- Department of Neurosurgery, Baylor College of Medicine, Houston, Texas, United States
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Aslam HM, Veeraballi S, Saeed Z, Weil A, Chaudhary V. Isolated Myeloid Sarcoma: A Diagnostic Dilemma. Cureus 2022; 14:e21200. [PMID: 35165636 PMCID: PMC8839873 DOI: 10.7759/cureus.21200] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 01/13/2022] [Indexed: 02/03/2023] Open
Abstract
Myeloid sarcoma (MS)/granulocytic sarcoma/myeloblastoma/chloroma is a rare extramedullary proliferation of blast cells of one or more myeloid lineages along with the destruction of the normal architecture of adjacent tissue. Isolated MS is a rare entity with an incidence of 0.7 out of 1 million children and 2 out of 1 million adults. Varied clinical presentation, the rarity of the diagnosis, inadequate immunophenotyping, and lack of available literature makes the disease difficult to manage. Here, we report a case of MS in a 44-year-old male with an initial presentation of testicular mass without bone marrow involvement, causing diagnostic challenges. In this case report, we discuss the pathogenesis, diagnostic challenges, and therapeutic options of MS.
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Affiliation(s)
- Hafiz M Aslam
- Hematology and Medical Oncology, East Carolina University, Greenville, USA
| | | | - Zabila Saeed
- Hematology and Medical Oncology, East Carolina University, Greenville, USA
| | - Andrew Weil
- Internal Medicine/Hematology and Medical Oncology, East Carolina University, Greenville, USA
| | - Vijay Chaudhary
- Hematology and Medical Oncology, East Carolina University, Greenville, USA
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7
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Abbas HA, Reville PK, Geppner A, Rausch CR, Pemmaraju N, Ohanian M, Sasaki K, Borthakur G, Daver N, DiNardo C, Bueso-Ramos C, Pierce S, Jabbour E, Garcia-Manero G, Konopleva M, Ravandi F, Kantarjian H, Kadia TM. Clinical and molecular characterization of myeloid sarcoma without medullary leukemia. Leuk Lymphoma 2021; 62:3402-3410. [PMID: 34380367 DOI: 10.1080/10428194.2021.1961235] [Citation(s) in RCA: 17] [Impact Index Per Article: 4.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/13/2022]
Abstract
Myeloid sarcoma (MS) in the setting of concomitant medullary AML is relatively well described, while much less is known about patients presenting with MS with <20% bone marrow blasts. We conducted a retrospective analysis of 56 patients with MS with <20% marrow blasts seen at MD Anderson between 2005 and 2020. The prevalence of MS without medullary AML was 1.4% among all newly diagnosed AML patients. The majority (75%) of patients had a single known anatomic site involved, with the skin (34%) being the most frequent. The most common histologic subtype was monocytic, and 11% of patients had a known history of an antecedent hematologic disorder. The majority of patients (70%) received frontline intensive chemotherapy induction, with 75% of those evaluable attaining complete or partial responses. The median overall survival (OS) and event-free survival (EFS) were 3.41 and 3.07 years, respectively. Patients with bone marrow blasts of ≥5% or medullary relapse had inferior outcomes, while age (>60 years) was not associated with outcomes. There was a suggestion that patients with isolated leukemia cutis may have had better outcomes compared to patients with other organ involvement, but this did not reach statistical significance. Most patients who had cytogenetic analysis had a diploid karyotype within their MS and bone marrow. RAS pathway mutations were enriched in MS at diagnosis, and at time of medullary relapse. Our study provides a large dataset summarizing the clinical and molecular analysis of patients with MS with <20% BM blasts and suggests that monitoring for medullary leukemia is important for early detection of relapse.
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Affiliation(s)
- Hussein A Abbas
- Division of Cancer Medicine, Medical Oncology Fellowship, University of Texas MD Anderson Cancer Center, Houston, TX, USA.,Department of Leukemia, University of Texas MD Anderson Cancer Center, Houston, TX, USA
| | - Patrick K Reville
- Division of Cancer Medicine, Medical Oncology Fellowship, University of Texas MD Anderson Cancer Center, Houston, TX, USA.,Department of Leukemia, University of Texas MD Anderson Cancer Center, Houston, TX, USA
| | - Alexis Geppner
- Department of Leukemia, University of Texas MD Anderson Cancer Center, Houston, TX, USA
| | - Caitlin R Rausch
- Division of Pharmacy, University of Texas MD Anderson Cancer Center, Houston, TX, USA
| | - Naveen Pemmaraju
- Department of Leukemia, University of Texas MD Anderson Cancer Center, Houston, TX, USA
| | - Maro Ohanian
- Department of Leukemia, University of Texas MD Anderson Cancer Center, Houston, TX, USA
| | - Koji Sasaki
- Department of Leukemia, University of Texas MD Anderson Cancer Center, Houston, TX, USA
| | - Gautam Borthakur
- Department of Leukemia, University of Texas MD Anderson Cancer Center, Houston, TX, USA
| | - Naval Daver
- Department of Leukemia, University of Texas MD Anderson Cancer Center, Houston, TX, USA
| | - Courtney DiNardo
- Department of Leukemia, University of Texas MD Anderson Cancer Center, Houston, TX, USA
| | - Carlos Bueso-Ramos
- Department of Hematopathology, University of Texas MD Anderson Cancer Center, Houston, TX, USA
| | - Sherry Pierce
- Department of Leukemia, University of Texas MD Anderson Cancer Center, Houston, TX, USA
| | - Elias Jabbour
- Department of Leukemia, University of Texas MD Anderson Cancer Center, Houston, TX, USA
| | | | - Marina Konopleva
- Department of Leukemia, University of Texas MD Anderson Cancer Center, Houston, TX, USA
| | - Farhad Ravandi
- Department of Leukemia, University of Texas MD Anderson Cancer Center, Houston, TX, USA
| | - Hagop Kantarjian
- Department of Leukemia, University of Texas MD Anderson Cancer Center, Houston, TX, USA
| | - Tapan M Kadia
- Department of Leukemia, University of Texas MD Anderson Cancer Center, Houston, TX, USA
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