CBFA2T3

Overview

CBFA2T3 (Core-Binding Factor Subunit Alpha-2 Translocated To 3, also known as ETO2 or MTG16) is a transcriptional corepressor. In acute megakaryoblastic leukemia (AMKL), the CBFA2T3-GLIS2 fusion gene — arising from an inv(16)(p13.3q24.3) — defines a biologically and clinically distinct disease subtype associated with poor prognosis.

Alterations observed in the corpus

  • CBFA2T3-GLIS2 fusion in acute megakaryoblastic leukemia (AMKL); identified as a diagnostic marker and poor-prognosis indicator; supported recommendation for bone-marrow transplant in the PIPseq pediatric precision-oncology cohort (Table 3) PMID:28007021

Cancer types (linked)

  • AMKL: CBFA2T3-GLIS2 fusion is diagnostic of a specific AMKL subtype and confers poor prognosis; finding prompted bone-marrow transplant recommendation PMID:28007021

Co-occurrence and mutual exclusivity

  • No co-mutation data beyond AMKL subtype assignment in this corpus.

Therapeutic relevance

  • CBFA2T3-GLIS2-positive AMKL has poor outcomes with standard therapy; bone-marrow transplant recommended based on poor-prognosis designation PMID:28007021

Open questions

  • Targeted therapies specifically addressing the CBFA2T3-GLIS2 oncoprotein remain under investigation.

Sources

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