Abstract
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 MSH2 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.
Original language | English (US) |
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Pages (from-to) | 1605-1609 |
Number of pages | 5 |
Journal | International Journal of Surgical Pathology |
Volume | 31 |
Issue number | 8 |
DOIs | |
State | Published - Dec 2023 |
Keywords
- Lynch syndrome
- MSH2 variant
- mediastinum
- myxofibrosarcoma
ASJC Scopus subject areas
- Surgery
- Anatomy
- Pathology and Forensic Medicine