Mediastinal Myxofibrosarcoma Harboring Loss-of-Function MSH2 Variant in a Patient With Lynch Syndrome: A Case Report and Literature Review

Myxofibrosarcoma is a malignant fibroblastic neoplasm that commonly arises in the extremities, with mediastinum being a very rare location. The development of sarcomas is uncommon in patients with Lynch syndrome. We present a Lynch syndrome patient with synchronous cecal adenocarcinoma and mediastin...

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Bibliographic Details
Published inInternational journal of surgical pathology p. 10668969231166299
Main Authors Jia, Liwei, Hwang, Helena, De Las Casas, Luis
Format Journal Article
LanguageEnglish
Published United States 01.12.2023
Subjects
MSH2 variant
mediastinum
myxofibrosarcoma
Lynch syndrome
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Summary:Myxofibrosarcoma is a malignant fibroblastic neoplasm that commonly arises in the extremities, with mediastinum being a very rare location. The development of sarcomas is uncommon in patients with Lynch syndrome. We present a Lynch syndrome patient with synchronous cecal adenocarcinoma and mediastinal myxofibrosarcoma with both harboring the same loss-of-function alteration (c.2634 + 1G > A splice region variant). Metastatic myxofibrosarcoma in the left chest wall developed 6 months after the initial diagnosis. The clinical presentation, imaging findings, histopathology, and molecular studies along with differential diagnoses are presented and discussed.
ISSN:1940-2465
DOI:10.1177/10668969231166299