CASE REPORT
Pigmented/melanocytic malignant perivascular epithelioid cell tumor with TFE3-SFPQ(PSF) rearrangement – a challenging diagnosis of PEComa family of tumors
1
Department of Pathology and Laboratory Diagnostics, Maria Sklodowska-Curie Institute-Oncology Centre, Warsaw, Poland
2
Department of Diagnostic Hematology, Institute of Hematology and Transfusion Medicine, Warsaw, Poland
3
Department of Soft Tissue/Bone Sarcoma and Melanoma, Maria Sklodowska-Curie Institute-Oncology Centre, Warsaw, Poland
Publication date: 2020-03-06
Pol J Pathol 2019;70(4):317-322
KEYWORDS
ABSTRACT
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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| eISSN: | 2084-9869 |
| ISSN: | 1233-9687 |
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