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Head and Neck Pathology
Published in: Head and Neck Pathology 3/2016

01-09-2016 | Case Report

Parotid Sebaceous Carcinoma in Patient with Muir Torre Syndrome, Caused by MSH2 Mutation

Authors: Iyer Vishwas Neelakantan, Silvana Di Palma, C. E. T. Smith, A. McCoombe

Published in: Head and Neck Pathology | Issue 3/2016

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Abstract

Sebaceous carcinoma of parotid gland are extremely rare with only 29 cases reported so far. The development of parotid sebaceous carcinoma in association with mutation in the mismatch repair gene that causes Muir Torre Syndrome (MTS), a subset of Lynch Syndrome, is still unclear. This study describes such a case and reviews the literature to see if an association between parotid sebaceous carcinoma and multiple visceral malignancies seen in Lynch Syndrome has ever been described. MTS represents a small subset of the Hereditary Non Polyposis Colorectal Carcinoma family, thought to be a subtype of Lynch Syndrome, where patients are prone to develop multiple visceral cancers involving gastrointestinal and genitourinary tract along with sebaceous and non-sebaceous tumours of the skin. MTS is a rare hereditary, autosomal dominant cancer syndrome caused by Microsatellite Instability and defect in DNA mismatch repair protein. The germline mutation involves mostly hMSH2 and hMLH1 genes. In MTS the skin of the head and neck area with the periocular region in particular, is affected but sebaceous carcinomas of the parotid associated with visceral malignancies has not yet been reported in literature. Here we report an index case of sebaceous carcinoma of parotid gland in a patient with MTS.
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Metadata
Title
Parotid Sebaceous Carcinoma in Patient with Muir Torre Syndrome, Caused by MSH2 Mutation
Authors
Iyer Vishwas Neelakantan
Silvana Di Palma
C. E. T. Smith
A. McCoombe
Publication date
01-09-2016
Publisher
Springer US
Published in
Head and Neck Pathology / Issue 3/2016
Electronic ISSN: 1936-0568
DOI
https://doi.org/10.1007/s12105-015-0670-9

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