Polish Journal of Pathology (Mar 2020)

Pigmented/melanocytic malignant perivascular epithelioid cell tumor with TFE3-SFPQ(PSF) rearrangement – a challenging diagnosis of PEComa family of tumors

  • Anna Szumera-Cieækiewicz,
  • Olga Kuczkiewicz-Siemion,
  • Katarzyna Seliga,
  • Magdalena Grabowska-Kierył,
  • Andrzej Tysarowski,
  • Michał Wągrodzki,
  • Tomasz Świtaj,
  • Monika Prochorec-Sobieszek,
  • Piotr Rutkowski

DOI
https://doi.org/10.5114/pjp.2019.93136
Journal volume & issue
Vol. 70, no. 4
pp. 317 – 322

Abstract

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We here report a case of a distinct subtype of pigmented/melanocytic malignant PEComa with TFE3-SFPQ(PSF) rearrangement. The tumor involved the iliac region and clinically mimicked metastatic melanoma. The immunohistochemical assessment was supplemented with molecular studies including fluorescence in situ hybridization (FISH) and next-generation sequencing sarcoma panel (NGS). We also discuss the differential diagnosis of intraabdominal PEComas and emphasise the recent molecular reports on the TFE3 rearranged tumors.

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