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Multi-modal Malignancies in Cowden Syndrome: Diagnostic Challenges in a Suspected Case From a Low-Resource Setting
Jawayria Sajid1, Rohma Qureshi2, Hamza Ahmad3
1Medical Oncology, Shalamar Medical and Dental College, Lahore, PAK.
Abstract:
Cowden syndrome (CS), a rare autosomal dominant disorder caused by mutations in the PTEN tumor suppressor gene, predisposes individuals to a wide range of malignancies, including breast, thyroid, endometrial, and renal cancers. This report presents a case of a 69-year-old woman with a history of papillary thyroid carcinoma, recently diagnosed invasive ductal carcinoma of the breast, and incidental clear cell renal cell carcinoma (RCC) - clinically pointing toward the diagnosis of CS. Genetic testing and endoscopic evaluations were not possible, as the case occurred in the setting of a developing country, with limited resources and financial constraints. This case underscores the importance of early recognition of hereditary cancer syndromes in patients with multiple malignancies, as well as the need for comprehensive genetic counseling, surveillance, and tailored treatment strategies. A multidisciplinary approach involving oncology, surgery, radiology, and genetics is crucial in managing the complex clinical presentation of patients with CS. The case also highlights the challenges faced when establishing a formal diagnosis in resource-constrained settings. These challenges are related not only to limited resources, but also to patient compliance, health literacy, and access to healthcare services.
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