[Acute myeloid leukemia with mutated RUNX1 at the university hospitals of Strasbourg].

Fiche publication

Date publication

août 2024

Journal

Annales de biologie clinique

Auteurs

Membres identifiés du Cancéropôle Est :
Dr LIOURE Bruno , Pr MAUVIEUX Laurent , Pr FORNECKER Luc-Matthieu , Dr MIGUET Laurent , Dr ROLLAND Delphine

Tous les auteurs :
Panaget B, Mauvieux L, Miguet L, Fornecker LM, Lioure B, Ledoux MP, Rolland D, Mayeur-Rousse C

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/39210855

Résumé

RUNX1 is essential during human hematopoiesis. Numerous RUNX1 deregulations have been described, including translocations and germline or somatic mutations. Recurrent de novo RUNX1 mutations in acute myeloid leukemias (AML) prompted the creation of a provisional entity of AML with mutated RUNX1 in the 2016 WHO. In addition, recent genomic studies underlined rare AML patients with plasmacytoid dendritic cell (pDC) expansion and high RUNX1 mutations frequency. To better characterized AML with RUNX1 mutations, we retrospectively investigated a cohort of 32 patients diagnosed at Strasbourg University Hospital. Detailed clinical and biological features were aggregated. The presence of a pDC contingent was assessed by cytology and flow cytometry. In our cohort, no common features were identified either in term of cytology, stage of leukemia arrest or mutational features. Based on our observations, mutated RUNX1 AMLs do not appear to be a distinct AML entity. The new 2022 WHO classification includes AML with mutated RUNX1 within AML myelodysplasia-related category. We also identified within our cohort a patient whose AML fulfilled AML-pDC criteria, a rare and newly included entity in the last WHO classification.