Cowden Syndrome With a Co-existing Lynch Syndrome Risk Mutation.
AI interpretation is pending for this paper.
Open original publication →What the AI sees
Not AI summarized yet.
Research significance
Pending deeper interpretation.
Source abstract
Thyroid nodules in children are rare but clinically significant due to their relatively high malignancy risk compared with adults. Genetic predisposition syndromes, such as PTEN hamartoma tumor syndrome (PHTS; Cowden syndrome) and Lynch syndrome, further complicate presentation, surveillance, and management. We present a 15-year-old female with a thyroid nodule, ultimately found to harbor dual germline mutations in the PTEN and PMS2 genes. This unusual co-occurrence highlights the diagnostic and management challenges associated with overlapping hereditary cancer syndromes. Comprehensive clinical assessment, imaging, histopathology, and genetic testing established the diagnosis. The case emphasizes the importance of multidisciplinary surveillance and early genetic counseling in patients presenting with thyroid nodules and strong familial cancer histories.