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ISSN: 1233-9687
Polish Journal of Pathology
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4/2019
vol. 70
 
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abstract:
Case report

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

Anna Szumera-Cieækiewicz
1, 2
,
Olga Kuczkiewicz-Siemion
1, 2
,
Katarzyna Seliga
1
,
Magdalena Grabowska-Kierył
1
,
Andrzej Tysarowski
1
,
Michał Wągrodzki
1
,
Tomasz Świtaj
3
,
Monika Prochorec-Sobieszek
1, 2
,
Piotr Rutkowski
3

  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
Pol J Pat hol 2019; 70 (4): 317-322
DOI: https://doi.org/10.5114/pjp.2019.93136
Online publish date: 2020/03/06
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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.
keywords:

perivascular epithelioid cell tumors
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