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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
NJ. Rupp, M. Brada, A. Skálová, B. Bode, MA. Broglie, GB. Morand, M. Rechsteiner, SN. Freiberger
Language English Country United States
Document type Case Reports, Journal Article
NLK
PubMed Central
from 2007 to 1 year ago
Europe PubMed Central
from 2007 to 1 year ago
- MeSH
- DNA-Binding Proteins genetics MeSH
- Carcinoma genetics pathology MeSH
- Humans MeSH
- Mutation MeSH
- Myoepithelioma genetics pathology MeSH
- Neoplasms, Glandular and Epithelial genetics pathology MeSH
- Parotid Neoplasms genetics pathology MeSH
- Proto-Oncogene Proteins p21(ras) genetics MeSH
- Aged MeSH
- Transcription Factors genetics MeSH
- Check Tag
- Humans MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
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.
Institute of Pathology Enge Zurich Switzerland
Sikl's Department of Pathology Faculty of Medicine in Plzen Charles University Pilsen Czech Republic
References provided by Crossref.org
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- $a Rupp, Niels J $u Department of Pathology and Molecular Pathology, University Hospital Zurich, Schmelzbergstr. 12, 8091, Zurich, Switzerland. niels.rupp@usz.ch ; University of Zurich, Zurich, Switzerland. niels.rupp@usz.ch
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- $a 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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