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01-06-2020 | Case Report

New Insights into Tumor Heterogeneity: A Case of Solid-Oncocytic Epithelial-Myoepithelial Carcinoma of the Parotid Gland Harboring a HRAS and Heterogeneous Terminating ARID1A Mutation

Authors: Niels J. Rupp, Muriel Brada, Alena Skálová, Beata Bode, Martina A. Broglie, Grégoire B. Morand, Markus Rechsteiner, Sandra N. Freiberger

Published in: Head and Neck Pathology | Issue 2/2020

Abstract

Epithelial-myoepithelial carcinoma (EMC) can be a challenging diagnosis due to a lack of obvious invasion and bland cytology. We report an unusual case of a low-grade EMC with prominent fibrous stroma, an extensive solid-oncocytic differentiation and limited areas of morphological clearly identifiable characteristic biphasic (tubular) differentiation, clear cells and PAS-positive secretions/calcifications. Both areas were investigated by next generation sequencing (Oncomine comprehensive assay) and revealed a typical concordant HRAS p.Q61R mutation. An additional heterogeneous ARID1A (p.E672*) terminating mutation with loss of heterozygosity, which could be visualized predominantly in the solid-oncocytic differentiation by immunohistochemical loss of ARID1A protein expression, was found. This is the first case of an EMC of the salivary gland to be described with two separate tumor clones involving concordant HRAS and heterogeneous ARID1A mutations. The latter seem to be a “second hit” and was predominantly found in the solid-oncocytic differentiation, suggesting a potential morpho-molecular association.

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Title: New Insights into Tumor Heterogeneity: A Case of Solid-Oncocytic Epithelial-Myoepithelial Carcinoma of the Parotid Gland Harboring a HRAS and Heterogeneous Terminating ARID1A Mutation
Authors: Niels J. Rupp
Muriel Brada
Alena Skálová
Beata Bode
Martina A. Broglie
Grégoire B. Morand
Markus Rechsteiner
Sandra N. Freiberger
Publication date: 01-06-2020
Publisher: Springer US
Published in: Head and Neck Pathology / Issue 2/2020
Electronic ISSN: 1936-0568
DOI: https://doi.org/10.1007/s12105-019-01055-9

At a glance: The STEP trials

Springer Medicine

New Insights into Tumor Heterogeneity: A Case of Solid-Oncocytic Epithelial-Myoepithelial Carcinoma of the Parotid Gland Harboring a HRAS and Heterogeneous Terminating ARID1A Mutation

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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