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

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 <i>SLC26A4</i> 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 <i>SLC26A4</i> 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.

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Publication Details

Journal
Frontiers in Oncology
Published
2026-01-30
DOI
https://doi.org/10.3389/fonc.2026.1593186
Primary Topic
Thyroid Cancer Diagnosis and Treatment
Type
article
Field-Weighted Citation Impact
0.00
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article

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

Jin Zhou, Hongji Wu, Ruzhong Xu, Linlin Shi et al.
Frontiers in Oncology
Thyroid Cancer Diagnosis and Treatment
article

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

Jin Zhou, Hongji Wu, Ruzhong Xu, Linlin Shi, Lin Xu, Jie Xu, Haitao Zheng
article en

Abstract

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 <i>SLC26A4</i> 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 <i>SLC26A4</i> 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.

Frontiers in OncologyVol. 16
Yuhuangding Hospital (CN), Nanyang Medical College (CN)
Good health and well-being
Openalex Percentile: Top 74%
Thyroid Cancer Diagnosis and Treatment
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