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PTEN-mutated Cowden disease increased risk for second malignant neoplasms
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Patients with Cowden disease who harbored PTEN germline mutations were at increased risk for all second malignant neoplasms, according to study results.
They were particularly at risk for breast, thyroid and endometrial second malignant neoplasms.
Researchers evaluated data from 2,912 patients with Cowden disease, a disease in which multiple hamartomas and carcinomas develop in the thyroid, breast, endometrium and kidney. PTEN mutations in these patients — known as PTEN hamartoma tumor syndromes — are associated with increased risk of breast, thyroid, endometrial and renal cancers, according to background information provided by the researchers.
Of the patients evaluated, 2,024 had a history of invasive cancer, and 114 (5.6%) had germline pathogenic PTEN mutations.
Forty-six patients (40%) with PTEN mutations had a second malignant neoplasm. The median age of patients at the time of their second diagnosis was 50 years (range, 21-71), and a median of 5 years (range, ˂1-35) occurred between the first and second diagnoses.
Fifty-one patients who harbored PTEN mutations had primary breast cancer. Of these patients, 11 (22%) developed a subsequent new primary breast cancer. The cumulative 10-year risk for a second breast cancer among these patients was 29% (95% CI, 15.3-43.7).
Overall, patients with PTEN hamartoma tumor syndromes were at a significantly increased risk for all secondary malignant neoplasms compared with the general population (standardized incidence ratio [SIR]=7.74; 95% CI, 5.84-10.07). Researchers found these patients were at significantly increased risk for breast (SIR=8.92; 95% CI, 5.85-13.07), thyroid (SIR=5.83; 95% CI, 3.01-10.18) and endometrial (SIR=14.08; 95% CI, 95% CI, 7.10-27.21) second malignant neoplasms.
“These data provide new clinical information for patients with PTEN hamartoma tumor syndromes, their family members, and their health care providers on the risk of second malignant neoplasms,” the researchers concluded. “If the high incidence of a subsequent breast primary is patients with PTEN hamartoma tumor syndromes presenting with breast cancer is validated, this suggests that prophylactic mastectomy should be considered for some patients.”
Disclosure: The researchers report no relevant financial disclosures.
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