TLX1 translocation variants and enhancer hijacking influence clinical outcome in T-cell acute lymphoblastic leukemia.

ABSTRACT: The T-cell Leukemia Homeobox 1 (TLX1) oncogene is frequently deregulated in T-cell acute lymphoblastic leukemia (T-ALL) and T-cell lymphoblastic lymphoma (T-LBL). In most instances, TLX1 overexpression results from its juxtaposition with a T-cell receptor (TCR) locus caused by interchromosomal translocations. However, in the subset of non-TCR-translocated TLX1-positive (non-TCR TLX1+) T-ALL cases, the underlying mechanisms driving TLX1 overexpression and their clinico-biological implications remain unclear. By integrating high-resolution data from next-generation sequencing, fluorescence in situ hybridization, karyotyping, optical genome mapping, and long-read whole-genome sequencing across a cohort of 1122 adult and pediatric T-ALL/T-LBL ca

SUBMITTER: Balducci E 

PROVIDER: S-EPMC12745038 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature