Fibromatosis-like metaplastic carcinoma with aggressive metastasis and a TERT promoter mutation: a case report and literature review

伴有侵袭性转移和TERT启动子突变的纤维瘤样化生性癌:病例报告及文献复习

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Abstract

BACKGROUND: Fibromatosis-like metaplastic carcinoma (FLMCa) is a rare, typically indolent subtype of triple-negative breast cancer. This report presents an exceptional case of FLMCa with an aggressive clinical course, challenging the conventional understanding of its low metastatic potential. METHODS: A 57-year-old woman presented with a left breast mass. The diagnosis was confirmed via histopathology and immunohistochemistry. Sanger sequencing was used to investigate potential genetic drivers. RESULTS: Pathological examination confirmed FLMCa, characterized by bland spindle cells and a triple-negative immunophenotype. A genetic analysis revealed a C228T mutation in the telomerase reverse transcriptase (TERT) promoter region. Despite multimodal therapy, including surgery, radiotherapy, and multiple lines of chemotherapy, the patient developed lung metastasis at 5 months and bone metastasis at 15 months post-surgery. CONCLUSION: This case highlights that a subset of FLMCa may exhibit unexpectedly aggressive behavior and resistance to conventional therapy. The presence of a TERT promoter mutation suggests a potential molecular mechanism for this virulence. Our findings advocate for a re-evaluation of risk stratification in FLMCa and underscore the critical need for vigilant follow-up and molecular profiling to guide future targeted therapy strategies.

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