Mast cell sarcoma with KIT p.D816V mutation and concurrent systemic mastocytosis.

Autor: Collins N; Department of Pathology, University of Colorado Anschutz Medical Campus, Aurora, USA., Willard N; Department of Pathology, University of Colorado Anschutz Medical Campus, Aurora, USA., Pan Z; Department of Pathology, University of Colorado Anschutz Medical Campus, Aurora, USA. zenggang.pan@cuanschutz.edu.
Jazyk: angličtina
Zdroj: Journal of hematopathology [J Hematop] 2024 Dec; Vol. 17 (4), pp. 281-287. Date of Electronic Publication: 2024 Dec 02.
DOI: 10.1007/s12308-024-00614-6
Abstrakt: 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.
Competing Interests: Declarations. Consent for publication: No patient recruitment or communication was needed for this study. No identifiable patient information or image was included. For this type of study, consent for publication is not required. Competing interests: The authors declare no competing interests. Conflict of interest: The authors declare that they have no conflict of interest. Ethical approval: All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Informed consent: This is a retrospective study and only existing pathology slides and images were utilized. For this type of study, informed consent is not required.
(© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
Databáze: MEDLINE
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