New genetic insights enhance diagnosis and treatment of MDS/MPN subtypes

Genetic landscape of myelodysplastic/myeloproliferative neoplasms (MDS/MPN) varies significantly across subtypes, and specific gene mutations are associated with different forms of the disease, according to a study.

Researchers analyzed the genomic profiles of various MDS/MPN subtypes, including chronic myelomonocytic leukemia (CMML), atypical chronic myeloid leukemia (aCML), MDS/MPN-unclassified (MDS/MPN-U), and MDS/MPN with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T).

Certain mutations commonly seen in myeloid cancers were present in MDS/MPN, with TET2 being the most frequently mutated gene. However, the distribution of these mutations varied across subtypes. For example, the TET2/SRSF2 mutation combination was prevalent in CMML, while ASXL1/SETBP1 was associated with aCML, and SF3B1/JAK2 in MDS/MPN-RS-T.

The study also identified poor prognostic factors, such as older age and RUNX1 and TP53 mutations in CMML, and CBL mutations in MDS/MPN-U.

Reference
Fei F, Jariwala A, Pullarkat S, et al. Genomic Landscape of Myelodysplastic/Myeloproliferative Neoplasms: A Multi-Central Study. Int J Mol Sci. 2024;25(18):10214. doi: 10.3390/ijms251810214. PMID: 39337700; PMCID: PMC11431978.