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

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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Publication Details

Journal
Cureus
Published
2025-01-16
DOI
https://doi.org/10.7759/cureus.77534
Primary Topic
DNA Repair Mechanisms
Type
article
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article

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

Ruchi Yadav, Vivek Yadav, Dosbai Saparov, Boris Avezbakiyev et al.
Cureus
DNA Repair Mechanisms
article

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

Ruchi Yadav, Vivek Yadav, Dosbai Saparov, Boris Avezbakiyev, Shakthi Raman
article en

Abstract

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.

CureusVol. 17(1)
Medical University of Lublin (PL), South Georgia Medical Center (US), Brookdale University Hospital and Medical Center (US)
Good health and well-being
Openalex Percentile: Top 99%
DNA Repair Mechanisms
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