The patient was a 73-year-old woman who had undergone breast-conserving surgery followed by irradiation (50 Gy/25 Fr)to the residual breast for left breast cancer 4 years before. Computed tomography for routine examination revealed a soft tissue mass on her left chest wall. Ultrasonography showed a hypoechoic mass with heterogeneous internal echo, 3.5×3.0×1.5 cm in size. Core-needle biopsy was performed, and histological examination revealed proliferation of spindle-shaped or pleomorphic and highly atypical cells. On immunohistochemistry, the tumor was negative for AE1/AE3, CD34, SMA, desmin, and S-100 and focally positive for CD68. Based on these findings, undifferentiated sarcoma was suspected. The patient underwent wide local excision of the chest wall with a surgical margin of 3-4 cm from the tumor edge. The histological diagnosis was undifferentiated pleomorphic sarcoma. Judging from the clinical course, this tumor was radiation-induced sarcoma. The patient remains disease-free 54 months after the operation.
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Sarcomas developed in patients with Lynch Syndrome are enriched in pleomorphic soft-tissue sarcomas and are sensitive to immunotherapy.
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Department of Digestive Medical Oncology, Toulouse University Hospital, Toulouse, France; Toulouse Cancer Research Centre, Toulouse, France; Department of Oncogenetics, Oncopole Claudius Regaud, Toulouse, France; Groupe Génétique et Cancer, Unicancer, France. Electronic address:
Article Synopsis
- Sarcomas are not typically associated with Lynch Syndrome (LS), but recent literature suggests a connection, prompting a national study to investigate their characteristics in LS patients.
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- Results showed a high prevalence of mismatch repair deficiency and promising responses to immune checkpoint inhibitors, suggesting the need for screening and potential immunotherapy for these sarcomas.
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Circulating tumor DNA (ctDNA) can be used to assess treatment response in patients with undifferentiated pleomorphic sarcoma (UPS). The importance of this is explored in our case of a 75-year-old man who was diagnosed with UPS of the right kidney. After a right nephrectomy and tumor resection, the patient was recovering well with initially undetectable, and then slightly elevated, circulating tumor DNA.
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