Differential prognostic impact of myelodysplasia-related gene mutations in AML

Myelodysplasia-related gene mutations (MRG) have received a lot of attention in recent updates on AML classification and prognosis. Yet, individual MRGs are rare and often lumped together as a single prognostic entity.

We gathered data from close to 5000 patients from multiple European study groups. While the European LeukemiaNet 2022 classifies all MRG mutations as adverse risk, our data show important differences between individual genes.

Key finding: Not all MRG mutations carry the same prognostic weight.

ASXL1, RUNX1, SF3B1, U2AF1 → consistent with ELN adverse risk

SRSF2, STAG2 → consistent with ELN intermediate risk

BCOR, EZH2, ZRSR2 → between ELN intermediate and adverse risk

We are grateful to all collaborators, patients, and study groups who made this effort possible!

Read the full paper:
https://lnkd.in/eJaVyN58