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

IF 6.7 1区医学 Q1 ENDOCRINOLOGY & METABOLISM

Thyroid Pub Date : 2025-07-01 Epub Date: 2025-06-05 DOI:10.1089/thy.2024.0641

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

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引用次数: 0

Abstract

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. Patient 2, a 51-year-old female, and her 30-year-old daughter (patient 3) were diagnosed with papillary TC and treated with surgery and radioiodine. Tumor testing in patient 3 demonstrated PV in BRAF (V600E). Gene query analysis (n = 2285 patients) identified 2% FLCN PV prevalence in sporadic TCs, but the prevalence increased to 23% in anaplastic TCs. Literature review revealed 15 TC cases in BHD with diverse clinical presentations. Conclusions: TCs are rare in BHD. FLCN PVs may not be the sole molecular drivers in TCs but may have a substantial role in the development of aggressive TCs.

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甲状腺癌在birt - hogg - dub综合征：病例系列和文献回顾。

背景：甲状腺癌（TC）在birt - hogg - dub (BHD)综合征中并不常见。我们描述了3例BHD合并TC的患者，并回顾了相关文献。患者1,55岁男性，BHD，发展为去分化癌细胞性TC伴远处转移，需要全身治疗和放疗。基因检测显示FLCN、DAXX和TP53存在致病性变异（pv）。患者2，一名51岁的女性，和她30岁的女儿（患者3）被诊断为乳头状TC，并接受手术和放射性碘治疗。患者3的肿瘤检测显示BRAF中的PV （V600E）。基因查询分析（n = 2285例患者）发现，散发性tc中FLCN PV患病率为2%，但间变性tc中患病率上升至23%。文献回顾15例BHD伴TC，临床表现多样。结论：tc在BHD中罕见。FLCN pv可能不是TCs的唯一分子驱动因素，但可能在侵袭性TCs的发展中起重要作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Thyroid 医学-内分泌学与代谢

CiteScore

12.30

自引率

6.10%

发文量

195

审稿时长

6 months

期刊介绍： This authoritative journal program, including the monthly flagship journal Thyroid, Clinical Thyroidology® (monthly), and VideoEndocrinology™ (quarterly), delivers in-depth coverage on topics from clinical application and primary care, to the latest advances in diagnostic imaging and surgical techniques and technologies, designed to optimize patient care and outcomes. Thyroid is the leading, peer-reviewed resource for original articles, patient-focused reports, and translational research on thyroid cancer and all thyroid related diseases. The Journal delivers the latest findings on topics from primary care to clinical application, and is the exclusive source for the authoritative and updated American Thyroid Association (ATA) Guidelines for Managing Thyroid Disease.