PATZ1

Overview

PATZ1 (POZ/BTB and AT hook containing zinc finger 1) encodes a transcription factor that can act as a fusion partner for EWSR1 in undifferentiated small round cell sarcomas. EWSR1::PATZ1 fusions define a subtype within the WHO 2020 “round cell sarcoma with EWSR1-non-ETS fusions” category.

Alterations observed in the corpus

  • Discussed as a characterised EWSR1-non-ETS fusion partner in the WHO 2020 “round cell sarcoma with EWSR1-non-ETS fusions” category, alongside EWSR1::BEND2, EWSR1::NFATC2, and EWSR1::POU2AF3; mentioned in the differential diagnostic context of a bladder EWSR1::BEND2 sarcoma case PMID:28199314.

Cancer types (linked)

  • Undifferentiated small round cell sarcoma (SARC): EWSR1::PATZ1 fusions are a WHO-recognized subtype distinct from classical Ewing sarcoma PMID:28199314.

Co-occurrence and mutual exclusivity

  • EWSR1::PATZ1 is mutually exclusive with canonical EWSR1::FLI1 Ewing sarcoma fusions; part of the EWSR1-non-ETS group PMID:28199314.

Therapeutic relevance

  • No specific targeted therapy reported; Ewing-sarcoma-like chemotherapy protocols are used in the absence of dedicated trials for EWSR1-non-ETS fusion sarcomas PMID:28199314.

Open questions

  • Whether EWSR1::PATZ1 and related EWSR1-non-ETS fusions (BEND2, NFATC2, POU2AF3) should be classified as distinct entities or merged based on site/morphology remains an open WHO classification question PMID:28199314.

Sources

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