Case report, case study

Muir-Torre Syndrome with Novel Mutation in the MSH2 Gene

Eda Ustaoglu ; Department of Dermatology, Bursa City Hospital, Bursa, Turkey
Senay Agirgol ; Department of Dermatology, Cam and Sakura Hospital, Istanbul
Huri Sema Aymelek ; Department of Medical Genetic, Bursa City Hospital, Bursa, Turkey
Ezgi Isil Turhan ; Department of Pathology, Bursa City Hospital, Bursa, Turkey

Abstract

Muir-Torre syndrome (MST) is a rare autosomal dominant subtype of
hereditary non-polyposis colorectal carcinoma. The diagnosis is established based
on the coexistence of sebaceous gland tumors and visceral organ malignancies.
Mutations in the mismatch repair genes are responsible for Muir-Torre syndrome.
Internal malignancies seen in MTS are most commonly colorectal, gastrointestinal
system, endometrial, genitourinary system, breast, lung, brain, and hepatobiliary
system malignancies. Detection of sebaceous neoplasia is essential in investigating
Muir-Torre syndrome, allowing early detection of internal malignancies. Herein, we
present the case of a patient with sebaceous adenomas, internal malignancies, and
a new mutation detected during the genetic examination.

Keywords

hereditary carcinoma; sebaceous adenoma; MSH2 gene

Hrčak ID:

316438

URI

https://hrcak.srce.hr/316438

Publication date:

15.9.2023.

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