A Rare Presentation of Five Primary Cancers in a Patient With Werner Syndrome: A Case Report and Literature Review.

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Tác giả: Avezbakiyev Boris, Shakthi Raman, Dosbai Saparov, Ruchi Yadav, Vivek Yadav

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: United States : Cureus , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 170691

Werner syndrome (WS) is a rare autosomal recessive disorder characterized by premature aging and a higher cancer risk. WS patients are characterized by a defective gene product, WRN, that plays an instrumental role in the genomic stability of DNA structures. It typically manifests in late adolescence or early adulthood, leading to premature aging, age-related disorders like diabetes, and myocardial infarction, and an increased propensity for developing sarcomas, melanoma, and solid tissue cancer. We present a rare case of an 80-year-old female with WS developing five different primary cancers over a decade namely basal cell carcinoma (BCC) of the face, left-sided urothelial carcinoma, right-sided triple-negative breast cancer (TNBC), right-sided invasive colonic adenocarcinoma, and pancreatic intraductal papillary mucinous neoplasm (IPMN). Our case report is unique in presentation it defies the expected life expectancy of the 50s seen in WS, with the patient currently exhibiting a stable clinical course. This case highlights the need for further research into the mechanisms behind extended lifespan and atypical tumor spectra in such patients, as well as the development of tailored therapeutic strategies, particularly with regard to chemotherapy.
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