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Genetic Risk Model for MDS Shown to Be Feasible

Am J Hematol; ePub 2018 Feb 24; Gangat, et al

Publish date:: February 28, 2018

A genetic risk model for myelodysplastic syndromes (MDS) based on age, karyotype, and mutations was shown to be feasible in a study involving 300 individuals. Investigators sought to develop a genetic risk model for primary for MDS. They looked at the prognostic significance of next-generation sequencing-derived mutations, using Mayo cytogenetic risk stratification (high-, intermediate-, and low-risk). Among the results:

TP53, RUNX1, U2AF1, ASXL1, EZH2, and SRSF2 mutations were unfavorable risk factors for survival.
SF3B1 mutation was favorable.
When analysis was adjusted for age and monosomal karyotype (MK), it confirmed independent prognostic contribution from RUNX1, ASXL1, and SF3B1 mutations.
A 3-tiered genetic risk model was generated, showing a 5-year survival rate in high-, intermediate-, and low-risk patients of 2%,18%, and 56%, respectively.

Citation:

Gangat N Mudireddy M, Lasho T, et al. Mutations and prognosis in myelodysplastic syndromes: Karyotype-adjusted analysis of targeted sequencing in 300 consecutive cases and development of a genetic risk model. [Published online ahead of print February 24, 2018]. Am J Hematol. doi:10.1002/ajh.25064.

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