Cytogenetic abnormalities in systemic mastocytosis: WHO subcategory-specific incidence and prognostic impact among 348 informative cases.

American Journal of Hematology
Sahrish ShahA Tefferi

Abstract

The World Health Organization (WHO) system lists five morphological categories of systemic mastocytosis (SM): indolent (ISM), smoldering, SM with an associated hematological neoplasm (SM-AHN), aggressive (ASM) and mast cell leukemia (MCL). Recent studies have highlighted the prognostic importance of mutations in SM, including ASXL1, RUNX1, and SRSF2. In contrast, information on incidence of cytogenetic abnormalities in SM and their prognostic relevance, especially in the context of mutations, is limited. In the current study, we retrospectively reviewed the cytogenetic findings in 348 consecutive cases of SM (median age 59 years; 53% males); 41% constituted ISM, 45% SM-AHN, 14% ASM and two cases of MCL. Karyotype was abnormal in 53 (15%) cases with incidences of 6% for ISM, 26% for SM-AHN and 8% for ASM (P < .001); among SM-AHN cases, abnormal karyotype incidences were 0% for SM-AHN-lymphoid and 28% for SM-AHN-myeloid (P < .001). Clinical correlative studies disclosed significant associations between abnormal karyotype and male sex (P = .002), age > 60 years (P = .04), thrombocytopenia (P < .001) and anemia (P < .001), but not with the presence of adverse mutations (P = .19). In univariate analysis, abnormal karyotype was assoc...Continue Reading

References

Oct 28, 2016·British Journal of Haematology·Animesh D PardananiAyalew Tefferi
Apr 23, 2016·American Journal of Hematology·Animesh Pardanani
Oct 21, 2016·American Journal of Hematology·Animesh Pardanani
Jan 18, 2018·Genes, Chromosomes & Cancer·Nicole NaumannAlice Fabarius

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Citations

Feb 12, 2019·Blood Cancer Journal·Francesco MannelliAlessandro M Vannucchi
Jun 6, 2020·International Journal of Molecular Sciences·Margherita MartelliSimona Soverini
Nov 29, 2020·BMC Cancer·Makiko TsutsumiHiroki Kurahashi
Aug 11, 2021·British Journal of Haematology·Melody C Carter, Dean D Metcalfe
Aug 20, 2021·British Journal of Haematology·Nicholas C P CrossUNKNOWN A British Society for Haematology Good Practice Paper
Dec 6, 2019·Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology·Roos LeguitAttilio Orazi

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