Litcius/Paper detail

TP53-mutant variant allele frequency and cytogenetics determine prognostic groups in MDS/AML for transplantation

Konstantinos Lontos, Rima M. Saliba, Rashmi Kanagal‐Shamanna, Gonca Ozcan, Jeremy Ramdial, George L. Chen, Tapan M. Kadia, Nicholas J. Short, Naval Daver, Hagop M. Kantarjian, David Marin, Partow Kebriaei, Uday Popat, Richard E. Champlin, Elizabeth J. Shpall, Betül Oran

2025Blood Advances24 citationsDOIOpen Access PDF

Abstract

ABSTRACT: Results after hematopoietic stem cell transplantation (HSCT) for TP53-mutated myeloid malignancies are disappointing. Several HSCT centers decline to perform HSCT for patients with TP53 mutation because of poor outcomes. In this study, we analyzed 240 patients with TP53-mutated myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) who underwent HSCT. We aimed to identify the patients who benefit most from HSCT. The primary outcome was progression-free survival (PFS). Of the cohort, 52% had AML and the median age was 62 years. AML and MDS outcomes were similar. We identified several favorable prognostic factors for PFS, including absence of complex cytogenetics/5q deletion/7q deletion, a lower variant allele frequency (VAF), a monohit status, and use of a matched-related donor. Using classification and regression tree analysis, we identified VAF and cytogenetics as the 2 most important prognostic factors. Patients with TP53mut VAF ≥ 50% had a 2-year PFS of 3%, and patients with TP53mut VAF < 50% and complex/5q/7q cytogenetic abnormalities had 2-year PFS of 22%. Patients with TP53mut VAF < 50% and without complex/5q/7q cytogenetics had 2-year PFS of 60%. These data inform clinical practice and help patients decide whether to pursue HSCT.

Topics & Concepts

CytogeneticsOncologyInternal medicineHematopoietic stem cell transplantationTransplantationMyeloid leukemiaMyelodysplastic syndromesMedicineCohortNPM1MyeloidBiologyBone marrowKaryotypeGeneticsChromosomeGeneAcute Myeloid Leukemia ResearchHematopoietic Stem Cell TransplantationCancer Genomics and Diagnostics