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

IF 2 4区医学 Q3 ONCOLOGY Hereditary Cancer in Clinical Practice Pub Date : 2021-08-21 DOI:10.1186/s13053-021-00192-z

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

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引用次数: 1

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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黏液纤维肉瘤携带与Muir-Torre综合征相关的MLH1致病种系变异:1例报告。

背景:Muir-Torre综合征(MTS)占Lynch综合征(LS)的一小部分(1- 3%)，是一种常染色体显性遗传疾病，以皮脂腺或角状棘皮瘤与内脏恶性肿瘤相关为特征。大多数MTS家族在MSH2中有致病性种系变异(PGV)。肉瘤在LS肿瘤谱系中并不常见，与MTS相关的肉瘤极为罕见。病例介绍:我们报告一例73岁男性腹壁黏液纤维肉瘤同时发生皮脂瘤，诊断为MTS，免疫组织化学检测到MLH1和PMS2蛋白表达缺失，并证实高频微卫星不稳定性(MSI-H)。种系遗传分析显示，他携带MLH1 PGV。结论:这是首例MLH1 PGV携带者的MSI-H黏液纤维肉瘤合并MTS。虽然罕见，但我们应该认识到肉瘤可能是LS和MTS的一部分。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Hereditary Cancer in Clinical Practice 医学-肿瘤学

CiteScore

3.10

自引率

5.90%

发文量

审稿时长

>12 weeks

期刊介绍： Hereditary Cancer in Clinical Practice is an open access journal that publishes articles of interest for the cancer genetics community and serves as a discussion forum for the development appropriate healthcare strategies. Cancer genetics encompasses a wide variety of disciplines and knowledge in the field is rapidly growing, especially as the amount of information linking genetic differences to inherited cancer predispositions continues expanding. With the increased knowledge of genetic variability and how this relates to cancer risk there is a growing demand not only to disseminate this information into clinical practice but also to enable competent debate concerning how such information is managed and what it implies for patient care. Topics covered by the journal include but are not limited to: Original research articles on any aspect of inherited predispositions to cancer. Reviews of inherited cancer predispositions. Application of molecular and cytogenetic analysis to clinical decision making. Clinical aspects of the management of hereditary cancers. Genetic counselling issues associated with cancer genetics. The role of registries in improving health care of patients with an inherited predisposition to cancer.