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Article

Thyroid Carcinoma in Birt-Hogg-Dubé Syndrome: Case Series and Review of Literature.

Thyroid : official journal of the American Thyroid Association - 1 Jul 2025

Vaid Sonal, Chuki Elias, Veeraraghavan Padmasree, Jedlinski-Obrzut Mikolaj, Bukhari Khulood, Klubo-Gwiezdzinska Joanna, Gubbi Sriram

Abstract excerpt

Background: Thyroid cancer (TC) is infrequently encountered in Birt-Hogg-Dubé (BHD) syndrome. We describe three BHD patients with TC and review the relevant literature. Patient Findings: Patient 1, a 55-year-old male with BHD, developed dedifferentiated oncocytic TC with distant metastases, requiring systemic therapy and radiation. Genetic testing revealed pathogenic variants (PVs) in FLCN, DAXX, and TP53....

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Source

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Identifiers

PMID: 40658617
DOI: 10.1089/thy.2024.0641
PMCID: PMC12281115

Genes

FLCN
BRAF
DAXX
TP53

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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