{"title":"Mast cell sarcoma with KIT p.D816V mutation and concurrent systemic mastocytosis.","authors":"Nicholas Collins, Nicholas Willard, Zenggang Pan","doi":"10.1007/s12308-024-00614-6","DOIUrl":null,"url":null,"abstract":"<p><p>Mast cell sarcoma (MCS) is an extremely rare and aggressive form of mastocytosis characterized by highly atypical mast cells with local invasion, metastatic potential, and poor prognosis. MCS is predominantly a de novo process without recurrent molecular findings or predisposing lesions including various myeloid neoplasms. However, there have been rare case reports of MCS with preceding or concurrent systemic mastocytosis (SM) or cutaneous mastocytosis (CM), which is suggestive of an uncommon progression from SM/CM to MCS. We hereby report a case of MCS in an 84-year-old male with a KIT p.D816V mutation and concurrent SM. KIT p.D816V point mutation is well known as the canonical variant in SM. In our case, MCS with KIT p.D816V mutation is a unique finding in the setting of concurrent SM, highlighting the potential relatedness of these two entities and the progression from SM to MCS, a currently poorly understood phenomenon.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":" ","pages":"281-287"},"PeriodicalIF":0.6000,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Hematopathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s12308-024-00614-6","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/12/2 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"HEMATOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Mast cell sarcoma (MCS) is an extremely rare and aggressive form of mastocytosis characterized by highly atypical mast cells with local invasion, metastatic potential, and poor prognosis. MCS is predominantly a de novo process without recurrent molecular findings or predisposing lesions including various myeloid neoplasms. However, there have been rare case reports of MCS with preceding or concurrent systemic mastocytosis (SM) or cutaneous mastocytosis (CM), which is suggestive of an uncommon progression from SM/CM to MCS. We hereby report a case of MCS in an 84-year-old male with a KIT p.D816V mutation and concurrent SM. KIT p.D816V point mutation is well known as the canonical variant in SM. In our case, MCS with KIT p.D816V mutation is a unique finding in the setting of concurrent SM, highlighting the potential relatedness of these two entities and the progression from SM to MCS, a currently poorly understood phenomenon.
期刊介绍：
The Journal of Hematopathology aims at providing pathologists with a special interest in hematopathology with all the information needed to perform modern pathology in evaluating lymphoid tissues and bone marrow. To this end the journal publishes reviews, editorials, comments, original papers, guidelines and protocols, papers on ancillary techniques, and occasional case reports in the fields of the pathology, molecular biology, and clinical features of diseases of the hematopoietic system.
The journal is the unique reference point for all pathologists with an interest in hematopathology. Molecular biologists involved in the expanding field of molecular diagnostics and research on lymphomas and leukemia benefit from the journal, too. Furthermore, the journal is of major interest for hematologists dealing with patients suffering from lymphomas, leukemias, and other diseases.
The journal is unique in its true international character. Especially in the field of hematopathology it is clear that there are huge geographical variations in incidence of diseases. This is not only locally relevant, but due to globalization, relevant for all those involved in the management of patients.
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