ABL1

Overview

ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase) is best known as the partner gene in the BCR–ABL1 fusion arising from the Philadelphia chromosome t(9;22), a hallmark of chronic myeloid leukemia (CML). In acute myeloid leukemia (AML), BCR–ABL1 fusions are a rare but recurrent event detected by RNA-seq and represent an activated-signaling driver.

Alterations observed in the corpus

  • BCR–ABL1 — recurrent in-frame fusion detected by RNA-seq in the TCGA AML cohort (200 adult de novo AML cases); classified among additional recurrent fusions alongside NUP98–NSD1 and PICALM–MLLT10. PMID:23634996
  • Mentioned in a 2014 HCC genomics review as a resistance analogy: ABL1-targeting tyrosine kinase inhibitor resistance patterns inform rational combination therapy design for HCC PMID:24735922
  • BCR-ABL1 fusion diagnostic of CML; NUP214-ABL1 and FOXP1-ABL1 fusions identified in B-cell ALL (BLL) — ABL1 rearrangements are TKI targets (dasatinib used to achieve remission enabling curative bone-marrow transplant) PMID:28007021
  • The BCR–ABL1 fusion is a classic leukemic fusion recovered in LAML ‘fusion-only’ tumors in a pan-cancer RNA-seq fusion analysis across TCGA. PMID:29617662

Cancer types (linked)

Co-occurrence and mutual exclusivity

  • BCR–ABL1-fused AML samples tend to carry fewer cooperating mutations, consistent with the broader observation for transcription-factor-fusion AML subgroups. PMID:23634996

Therapeutic relevance

  • BCR–ABL1 fusions are the canonical target of imatinib and second/third-generation ABL1 tyrosine kinase inhibitors; clinical relevance in AML context not separately analyzed in this study. PMID:23634996

Open questions

  • Prevalence and prognostic impact of BCR–ABL1 in de novo AML (as opposed to blast-crisis CML) requires confirmation in larger series; this cohort’s sample size limits subgroup comparisons. PMID:23634996

Sources

This page was processed by crosslinker on 2026-05-09. - PMID:24735922

This page was processed by wiki-cli on 2026-05-11. - PMID:28007021

This page was processed by entity-page-writer on 2026-05-15. - PMID:29617662

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