The number of additional high molecular risk mutations predicts outcome after hematopoietic stem cell transplantation in primary and secondary myelofibrosis

Le résumé fourni par la source

Defining prognosis in myelofibrosis (MF) is of particular clinical relevance since survival may be highly heterogeneous, ranging from years to a few months. The biological landscape knowledge of MF has evolved in recent years, with the discovery of additional mutations in the myeloid-related genes beyond driver mutations. Mutations in ASXL1, EZH2, SRSF2, IDH1/2 and U2AF2 genes are defined as high-molecular risk mutations (HMR) [ 1 , 2 ], and their presence has been associated with poorer survival. Consequently, the presence of HMR mutations has been incorporated into various prognostic scores and helps in defining prognosis, driving therapeutic strategies.

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