Work

Myelodysplastic Syndrome in Childhood: the Hacettepe Cohort

Year: 2025

Type: article

Abstract: NRAS alone 4.7% at diagnosis) with UBA1 mutation arising second (NRAS+UBA1: 27.3%).The NRAS+UBA1-mutant clone demonstrated myeloid bias compared to NRAS-only and wildtype cells.Purified CD34+ cells showed enrichment of both UBA1 and NRAS mutations, suggesting preferential expansion within hematopoietic stem/progenitor cells.Conclusions: We describe the first pediatric case of VEXAS MDS showing excellent response to CPX-351 followed by transplantation.We also show that the UBA1 mutation can arise secondary to Ras pathway activation.

Source: EJC Paediatric Oncology

DOI: 10.1016/j.ejcped.2025.100407

Authors: Tekin Aksu, Fatma Ugur, Sule Unal, Barış Kuskonmaz, Selin Aytac

Institution: Hacettepe University

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: $2,340