Abstract
4/2019
vol. 70
Case report
Pigmented/melanocytic malignant perivascular epithelioid cell tumor with TFE3-SFPQ(PSF) rearrangement – a challenging diagnosis of PEComa family of tumors
- Department of Pathology and Laboratory Diagnostics, Maria Sklodowska-Curie Institute-Oncology Centre, Warsaw, Poland
- Department of Diagnostic Hematology, Institute of Hematology and Transfusion Medicine, Warsaw, Poland
- Department of Soft Tissue/Bone Sarcoma and Melanoma, Maria Sklodowska-Curie Institute-Oncology Centre, Warsaw, Poland
Pol J Pat hol 2019; 70 (4): 317-322
Online publish date: 2020/03/06
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.
Keywords
perivascular epithelioid cell tumors
Integrated with
