ASXL1

Overview

ASXL1 is an epigenetic regulator recurrently mutated at low frequency across myeloid and lymphoid malignancies, with prognostic relevance in CLL.

Alterations observed in the corpus

  • Known lower-frequency CLL driver reconfirmed as prognostic in IGHV-unmutated CLL (U-CLL) in the integrated 1,148-patient CLL map PMID:35927489.
  • ASXL1 is a prevalent clonal hematopoiesis driver in MSK patients with nonhematologic cancer, used as a reference CH genotype in a 42,714-patient analysis PMID:38147626.
  • ASXL1 and MSH3 identified as shared putative oncogenic mutations in an exceptional responder case of MSI-H/dMMR prostate cancer, highlighting clonal relatedness of serial tumors across primary and metastatic specimens PMID:38949888.
  • ASXL1 recurrently mutated in myelodysplastic syndrome (MDS) in a Tokyo cohort study identifying recurrent STAG2 and co-occurring epigenetic regulator mutations PMID:21909114
  • ASXL1 mutations observed in breast cancer WES of 100 tumors, linking Polycomb-associated chromatin regulation to breast cancer PMID:22722201
  • ASXL1 mutations detected in prostate cancer WES of 112 tumors (Michigan cohort), implicating chromatin deregulation in prostate cancer PMID:22722839
  • Anchor of the third mutual-exclusivity set in AML (vs. cohesin-complex and other epigenetic modifier mutations); part of the epigenetic-modifier gene category in the TCGA AML cohort (laml_tcga_pub, n=200) PMID:23634996
  • Somatic variants in 13/12 patients across MPN subtypes (PV/ET/MF); co-mutated with splicing factors U2AF1 and SRSF2 in a pattern echoing MDS PMID:24325359
  • ASXL1 identified as a chromatin modification driver in CLL in a 538-sample WES study; classified in the chromatin modification pathway alongside BAZ2B and IKZF3 PMID:26466571
  • ASXL1: early epigenetic driver in chromatin-spliceosome AML subgroup; independent adverse prognostic effect with additive interaction with SRSF2 PMID:27276561
  • ASXL1 mutations included in the 8-gene amplicon panel and observed in the AML/MDS cohort treated with 10-day decitabine cycles; not reported as a predictor of decitabine response PMID:27959731
  • Polycomb-group chromatin-modifier SMG in MIBC (TCGA, n=412) with predominantly inactivating mutations PMID:28988769

Cancer types (linked)

  • CLL — ASXL1 mutations are among the drivers associated with adverse outcome specifically in the U-CLL subtype PMID:35927489.

Co-occurrence and mutual exclusivity

  • Not specifically reported for ASXL1 in the corpus PMID:35927489.

Therapeutic relevance

  • No ASXL1-directed therapy is reported in the corpus PMID:35927489.

Open questions

  • Mechanistic basis for the U-CLL-restricted prognostic effect of ASXL1 is not addressed PMID:35927489.

Sources

This page was processed by crosslinker on 2026-05-14. - PMID:21909114

This page was processed by crosslinker on 2026-05-14. - PMID:22722201

This page was processed by crosslinker on 2026-05-14. - PMID:22722839

This page was processed by crosslinker on 2026-05-14. - PMID:23634996

This page was processed by crosslinker on 2026-05-14. - PMID:24325359

This page was processed by crosslinker on 2026-05-14. - PMID:26466571

This page was processed by crosslinker on 2026-05-14. - PMID:27276561

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