Work

Acute Myeloid Leukemia with Myelodysplasia-Related Gene Mutations

Year: 2026

Type: article

Abstract: Background/Objectives: Acute Myeloid Leukemia (AML) with myelodysplasia-related gene mutations (AML-MR), often referred to as secondary AML (s-AML) or AML-MRC, is an aggressive form of leukemia that typically arises from an antecedent myelodysplastic syndrome (MDS) but may originate also de novo. It is characterized by mutations in key genes associated with MDS that include some epigenetic regulators (ASXL1, EZH2), splicing factors (SF3B1, SRSF2, U2AF1, ZRSR2) and transcription factors (BCOR, RUNX1, STAG2). The main objective of this review paper consists in analyzing recent studies that have improved the criteria for characterization, definition and classification of AML-MR. Methods: An extensive search of the most recent literature on the topic was performed, selecting and critically analyzing the most relevant studies. Results. The studies carried out in the last years have provided an extensive molecular characterization of AML-MR, supporting more sound criteria for their identification and for a better definition with respect to other AML subtypes, particularly with respect to TP53-mutant AML. Conclusions: A unifying classification of AML-MR is now possible, allowing its identification as a unique, well-defined and separate entity.

Source: Journal of Clinical Medicine

DOI: 10.3390/jcm15155958

Author: Ugo Testa

Institution: Istituto Superiore di Sanità

Language: English

Topic: Acute Myeloid Leukemia Research

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,137