Muir-Torre Syndrome With a Frame-shift Mutation in the MSH2 Gene: A Rare Case Report and Literature Review
Muir-Torre syndrome is a rare subtype of Lynch syndrome characterized by coincidence of skin neoplasm and visceral malignancies. Here, we report a case of this rare disease, whose diagnosis of the syndrome was first suspected by the pathologist. This was a 60-yr-old woman who presented with an axillary skin nodule, which was diagnosed as basal cell carcinoma. Further inquiry revealed that she was hospitalized for evaluation of a recurrent vaginal stump endometrial carcinoma. Histologic workup and immunohistochemistry for mismatch repair proteins of both the skin and vaginal tumor suggested the possibility of Muir-Torre syndrome. NexGen sequencing identified a frame-shift mutation in the MSH2 gene. The patient was found to have a metachronous colorectal carcinoma, uterine endometrial carcinoma, and skin cancer from 1998 to 2016. Five family members had also suffered from colorectal cancer or glioma. This case report illustrates the importance of the multidisciplinary care approach, mismatch repair protein and gene testing, and detailed medical history taking into consideration the diagnosis of Muir-Torre syndrome.
Publication date: Available online 13 July 2020Source: Pathology - Research and PracticeAuthor(s): Hyun Ji Son, Ha Yoon Mo, Nam Jin Yoo, Sug Hyung Lee
Publication date: Available online 13 July 2020Source: Pathology - Research and PracticeAuthor(s): Jamal Halajzadeh, Parisa Maleki Dana, Zatollah Asemi, Mohammad Ali Mansournia, Bahman Yousefi
Publication date: Available online 12 July 2020Source: Pathology - Research and PracticeAuthor(s): Milena Vuletic, Snezana Jancic, Sanja Milenkovic, Marinko Paunovic, Biljana Milicic, Nina Jancic, Biljana Perunicic, Zivana Slovic
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Date: Friday, 08 28, 2020; Speaker: Luke Gilbert, Ph.D., Assistant Professor, UCSF; Building: Online - Webex, twitter, Facebook Live; URL: ; CME Credit; Videocast Event
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