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Open Access 01-12-2021 | Sarcoma | Case report

Myxofibrosarcoma harboring an MLH1 pathogenic germline variant associated with Muir-Torre syndrome: a case report

Authors: Makoto Nakagawa, Eisuke Kobayashi, Masayoshi Yamada, Tomoko Watanabe, Makoto Hirata, Noriko Tanabe, Mineko Ushiama, Hiromi Sakamoto, Chiaki Sato, Taisuke Mori, Akihiko Yoshida, Teruhiko Yoshida, Kokichi Sugano, Akira Kawai

Published in: Hereditary Cancer in Clinical Practice | Issue 1/2021

Abstract

Background

Muir–Torre syndrome (MTS), which accounts for a small subset (1–3 %) of Lynch syndrome (LS), is an autosomal dominant genetic disorder characterized by sebaceous gland or keratoacanthoma associated with visceral malignancies. Most families with MTS have pathogenic germline variants (PGV) in MSH2. Sarcomas are not common on the LS tumor spectrum, and sarcomas associated with MTS are extremely rare.

Case presentation

Here we report a myxofibrosarcoma of the abdominal wall in a 73-year-old man with a sebaceoma that occurred synchronically, leading to a diagnosis of MTS. The loss of MLH1 and PMS2 protein expression was detected in immunohistochemistry, and high-frequency microsatellite instability (MSI-H) was also confirmed. A germline genetic analysis revealed that he harbored the MLH1 PGV.

Conclusions

This is the first case of MSI-H myxofibrosarcoma with MTS in an MLH1 PGV carrier. Although rare, we should recognize that sarcomas can be part of the spectrum of LS and MTS.

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Title: Myxofibrosarcoma harboring an MLH1 pathogenic germline variant associated with Muir-Torre syndrome: a case report
Authors: Makoto Nakagawa
Eisuke Kobayashi
Masayoshi Yamada
Tomoko Watanabe
Makoto Hirata
Noriko Tanabe
Mineko Ushiama
Hiromi Sakamoto
Chiaki Sato
Taisuke Mori
Akihiko Yoshida
Teruhiko Yoshida
Kokichi Sugano
Akira Kawai
Publication date: 01-12-2021
Publisher: BioMed Central
Keywords: Sarcoma
Muir-Torre Syndrome
Published in: Hereditary Cancer in Clinical Practice / Issue 1/2021
Electronic ISSN: 1897-4287
DOI: https://doi.org/10.1186/s13053-021-00192-z

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Abstract

Background

Case presentation

Conclusions

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