PAX5

Overview

PAX5 (Paired Box 5) encodes a transcription factor essential for B-cell identity and differentiation. In cancer genomics, PAX5 alterations are recurrent in B-cell acute lymphoblastic leukemia (B-ALL), where loss-of-function mutations and deletions impair B-lineage commitment. PAX5 is one of the most commonly altered lymphoid transcription factors in childhood B-ALL.

Alterations observed in the corpus

  • Alterations (mutations or deletions) in 11.3% of DUX4/ERG B-ALL subtype cases in a multi-cohort study of 1,913 children, adolescents, and young adults; classified among lymphoid transcription-factor lesions (total 46.5% of cases), alongside IKZF1 alterations (36.7%) PMID:27776115
  • Alterations in PAX5 associated with poorer survival in ABC DLBCL in a 1001-patient DLBCL genomic cohort PMID:28985567

Cancer types (linked)

  • BLL — recurrently altered in the DUX4/ERG subtype of B-progenitor ALL (~7.6% of B-ALL); the subtype is characterized by IGH–DUX4 rearrangement, frequent ERG deletions, and favorable outcome despite IKZF1 co-alteration PMID:27776115

Co-occurrence and mutual exclusivity

Therapeutic relevance

  • No direct targeted therapy for PAX5-altered ALL is described in the corpus; clinical implication is risk re-classification: IKZF1 loss in the DUX4/ERG subtype (including PAX5-altered cases) does not confer the adverse prognosis typical of other B-ALL subtypes PMID:27776115

Open questions

  • Functional consequence of PAX5 alterations in the specific context of DUX4/ERG B-ALL (versus other B-ALL subtypes) is not addressed in the corpus PMID:27776115

Sources

This page was processed by crosslinker on 2026-05-14. - PMID:28985567

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