Thyroid and breast carcinomas in a patient with Pendred syndrome: a case report and literature review.

ABSTRACT:

Background

Goiter in the course of Pendred syndrome may in rare cases be associated with thyroid cancer (about 1% of all Pendred syndrome patients). The coexistence of Pendred syndrome with both thyroid and breast cancer is an even rarer condition reported in only one case.

Case presentation

We report a case of a patient diagnosed with Pendred syndrome, who concurrently developed follicular thyroid cancer and breast cancer. After receiving four cycles of neoadjuvant THP (trastuzumab + pertuzumab + docetaxel) chemotherapy, the patient underwent left mastectomy and bilateral thyroidectomy. Postoperative pathology confirmed follicular thyroid carcinoma, while no residual malignancy was detected in the breast tissue. Genetic analysis of the SLC26A4 gene revealed mutations in int

SUBMITTER: Wu H 

PROVIDER: S-EPMC12900729 | biostudies-literature | 2026

REPOSITORIES: biostudies-literature