伴有TFE3-SFPQ（PSF）重排的色素性/黑素细胞性恶性血管周上皮样细胞瘤——一种具有挑战性的PEComa家族肿瘤诊断

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

作者信息

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

机构信息

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.

出版信息

Pol J Pathol. 2019;70(4):317-322. doi: 10.5114/pjp.2019.93136.

DOI:10.5114/pjp.2019.93136

PMID:32146802

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.

摘要

我们在此报告一例伴有TFE3-SFPQ（PSF）重排的色素性/黑素细胞性恶性PEComa独特亚型病例。肿瘤累及髂区，临床上酷似转移性黑色素瘤。免疫组化评估辅以分子研究，包括荧光原位杂交（FISH）和二代测序肉瘤检测板（NGS）。我们还讨论了腹腔内PEComas的鉴别诊断，并强调了关于TFE3重排肿瘤的最新分子报告。