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A cutaneous spindle cell neoplasm characterized by a COL3A1::PDGFRA fusion

Watkins, James ; Jackson, Edward ; Tarpey, Patrick ; Tadross, John A ; Trotman, Jamie ; O'Dea, Emily

Journal of cutaneous pathology, 2024

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  • Título:
    A cutaneous spindle cell neoplasm characterized by a COL3A1::PDGFRA fusion
  • Autor: Watkins, James ; Jackson, Edward ; Tarpey, Patrick ; Tadross, John A ; Trotman, Jamie ; O'Dea, Emily
  • É parte de: Journal of cutaneous pathology, 2024
  • Notas: ObjectType-Case Study-2
    content type line 59
    SourceType-Reports-1
    ObjectType-Report-1
  • Descrição: Cutaneous spindle cell neoplasms can be challenging to diagnose using routine histopathological techniques alone, and the growing repertoire of molecular studies can assist in diagnosis. We describe a cutaneous spindle cell neoplasm characterized by a COL3A1::PDGFRA rearrangement predicted to lead to constitutive activation of the PDGFRA kinase domain. The lesion shows some similarities to dermatofibrosarcoma protuberans and also benign and epithelioid fibrous histiocytomas but is distinct from these entities histopathologically and molecularly. This tumor is considered to represent an entity in the spectrum of PDGFR-driven cutaneous mesenchymal neoplasms.
  • Idioma: Inglês

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