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Clonal evolution and heterogeneity in advanced systemic mastocytosis revealed by single-cell DNA sequencing

Lim, K. et al.
Blood Advances (2021)

Advanced systemic mastocytosis (advSM) is a clonal stem cell neoplasm that includes aggressive SM (ASM), SM with an associated hematologic neoplasm (AHN), and mast cell leukemia. The median survival is 41 months for ASM, 24 months for SM-AHN, and <6 to 18 months for mast cell leukemia. KIT D816V mutation can be detected in >90% of SM patients.  Interestingly, multilineage involvement of KIT D816V and multimutations in other genes such as SRSF2ASXL1, and RUNX1 are frequently detected in advSM.  Some of the above-mentioned mutations were found to precede the KIT D816V mutation, indicating that the KIT mutation is a phenotypic mutation in SM. The presence and number of several mutated genes such as the SRSF2ASXL1RUNX1 panel are associated with worse prognosis in advSM.


Lim, K., Wu, J., Huang, T., Jhuang, J., Chang, Y., Lin, H., Chiang, Y., Su, Y., Chen, C.G., Chang, Y., Lin, J.


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