Diagnostic features in paediatric MDS-EB with UBTF-internal tandem duplication: defining a unique subgroup.

ABSTRACT:

Aim

Tandem-duplications of the UBTF gene (UBTF-TDs) have recently been identified as a new genetic driver in young individuals with acute myeloid leukaemia (AML) and myelodysplastic syndrome (MDS). Disease in these newly defined subgroups is characterized by poor response to standard intensive chemotherapy and inferior survival of the affected patients. However, a thorough analysis of bone marrow histomorphology of UBTF-mutated neoplasia has not been undertaken thus far.

Methods and results

In this retrospective study, we investigated the characteristic histopathological features of a cohort comprising 14 paediatric MDS patients with an excess of blasts (MDS-EB) and UBTF-TD. Bone marrow biopsies from these patients revealed hypercellularity and severe dysplasia across all th

SUBMITTER: Schwarz-Furlan S 

PROVIDER: S-EPMC11791721 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature