Malignant perivascular epithelioid cell tumor of the oropharynx with strong TFE3 expression mimicking alveolar soft part sarcoma: a case report and review of the literature

Karan Saluja; Jaiyeola Thomas; Songlin Zhang; Erich M Sturgis; Kunal S Jain; Victor G Prieto; Adel K El-Naggar; Diana Bell

doi:10.1016/j.humpath.2017.11.016

Malignant perivascular epithelioid cell tumor of the oropharynx with strong TFE3 expression mimicking alveolar soft part sarcoma: a case report and review of the literature

Hum Pathol. 2018 Jun:76:149-155. doi: 10.1016/j.humpath.2017.11.016. Epub 2017 Dec 5.

Authors

Karan Saluja¹, Jaiyeola Thomas², Songlin Zhang², Erich M Sturgis³, Kunal S Jain⁴, Victor G Prieto⁵, Adel K El-Naggar⁵, Diana Bell⁵

Affiliations

¹ Department of Pathology and Laboratory Medicine, The University of Texas Health Science Center at Houston, Houston 77030, TX, USA. Electronic address: karan.saluja@uth.tmc.edu.
² Department of Pathology and Laboratory Medicine, The University of Texas Health Science Center at Houston, Houston 77030, TX, USA.
³ Department of Head and Neck Surgery, MD Anderson Cancer Center, Houston 77030, TX, USA.
⁴ Department of Otorhinolaryngology-Head and Neck Surgery, The University of Texas Health Science Center at Houston, Houston 77030, TX, USA.
⁵ Department of Pathology, Division of Pathology and Laboratory Medicine, The University of Texas MD Anderson Cancer Center, Houston 77030, TX, USA.

PMID: 29208563
DOI: 10.1016/j.humpath.2017.11.016

Abstract

Perivascular epithelioid cell tumors (PEComas) in the head and neck region are rare, with 26 cases described in literature. These distinct mesenchymal tumors normally express both myoid and melanocytic markers. We here report an interesting and challenging case of malignant PEComa that showed transcription factor E3 (TFE3) protein expression and rearrangement, paucity of muscle and melanocytic marker expression, and morphologically mimicked alveolar soft part sarcoma. Awareness of this morphologic pitfall and recognition of TFE3 gene-rearranged PEComa, as a distinct subtype of PEComa, is essential to avoid misdiagnosis.

Keywords: Head and neck; Malignant; Oropharynx; PEComa; Perivascular epithelioid cell tumor; TFE3.

Publication types

Case Reports
Review

MeSH terms

Adult
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / analysis*
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / genetics
Biomarkers, Tumor / analysis*
Biomarkers, Tumor / genetics
Diagnosis, Differential
Female
Gene Rearrangement
Humans
Immunohistochemistry
In Situ Hybridization, Fluorescence
Oropharyngeal Neoplasms / chemistry*
Oropharyngeal Neoplasms / genetics
Oropharyngeal Neoplasms / pathology
Oropharyngeal Neoplasms / therapy
Perivascular Epithelioid Cell Neoplasms / chemistry*
Perivascular Epithelioid Cell Neoplasms / genetics
Perivascular Epithelioid Cell Neoplasms / pathology
Perivascular Epithelioid Cell Neoplasms / therapy
Predictive Value of Tests
Sarcoma, Alveolar Soft Part / chemistry*
Sarcoma, Alveolar Soft Part / genetics
Sarcoma, Alveolar Soft Part / pathology
Tomography, X-Ray Computed

Substances

Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
Biomarkers, Tumor
TFE3 protein, human