Pigmented/melanocytic malignant perivascular epithelioid cell tumor with TFE3-SFPQ(PSF) rearrangement – a challenging diagnosis of PEComa family of tumors
oleh: Anna Szumera-Cieækiewicz, Olga Kuczkiewicz-Siemion, Katarzyna Seliga, Magdalena Grabowska-Kierył, Andrzej Tysarowski, Michał Wągrodzki, Tomasz Świtaj, Monika Prochorec-Sobieszek, Piotr Rutkowski
| Format: | Article |
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| Diterbitkan: | Termedia Publishing House 2020-03-01 |
Deskripsi
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.