The coexistence of Pendred syndrome with both thyroid and breast carcinoma is extremely rare, and the underlying mechanisms remain uncertain. Current evidence does not support SLC26A4 as a driver oncogene, and the concurrence of malignancies may represent a coincidental finding rather than a causal association. Nonetheless, comprehensive genetic testing should be considered for patients with Pendred syndrome, and family-based screening is recommended once pathogenic SLC26A4 variants are identified. Long-term surveillance of the thyroid and breast is essential for early detection and timely management of potential malignancies in these patients.
Wu et al. (Fri,) studied this question.