{"title":"甲状腺癌在birt - hogg - dub<s:1>综合征：病例系列和文献回顾。","authors":"Sonal Vaid, Elias Chuki, Padmasree Veeraraghavan, Mikolaj Jedlinski-Obrzut, Khulood Bukhari, Joanna Klubo-Gwiezdzinska, Sriram Gubbi","doi":"10.1089/thy.2024.0641","DOIUrl":null,"url":null,"abstract":"<p><p><b><i>Background:</i></b> Thyroid cancer (TC) is infrequently encountered in Birt-Hogg-Dubé (BHD) syndrome. We describe three BHD patients with TC and review the relevant literature. <b><i>Patient Findings:</i></b> 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 <i>FLCN</i>, <i>DAXX</i>, and <i>TP53</i>. 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 <i>BRAF</i> (<i>V600E</i>). Gene query analysis (<i>n</i> = 2285 patients) identified 2% <i>FLCN</i> 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. <b><i>Conclusions:</i></b> TCs are rare in BHD. <i>FLCN</i> PVs may not be the sole molecular drivers in TCs but may have a substantial role in the development of aggressive TCs.</p>","PeriodicalId":23016,"journal":{"name":"Thyroid","volume":"35 7","pages":"828-835"},"PeriodicalIF":6.7000,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12281115/pdf/","citationCount":"0","resultStr":"{\"title\":\"Thyroid Carcinoma in Birt-Hogg-Dubé Syndrome: Case Series and Review of Literature.\",\"authors\":\"Sonal Vaid, Elias Chuki, Padmasree Veeraraghavan, Mikolaj Jedlinski-Obrzut, Khulood Bukhari, Joanna Klubo-Gwiezdzinska, Sriram Gubbi\",\"doi\":\"10.1089/thy.2024.0641\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p><b><i>Background:</i></b> Thyroid cancer (TC) is infrequently encountered in Birt-Hogg-Dubé (BHD) syndrome. We describe three BHD patients with TC and review the relevant literature. <b><i>Patient Findings:</i></b> 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 <i>FLCN</i>, <i>DAXX</i>, and <i>TP53</i>. 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 <i>BRAF</i> (<i>V600E</i>). Gene query analysis (<i>n</i> = 2285 patients) identified 2% <i>FLCN</i> 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. <b><i>Conclusions:</i></b> TCs are rare in BHD. <i>FLCN</i> PVs may not be the sole molecular drivers in TCs but may have a substantial role in the development of aggressive TCs.</p>\",\"PeriodicalId\":23016,\"journal\":{\"name\":\"Thyroid\",\"volume\":\"35 7\",\"pages\":\"828-835\"},\"PeriodicalIF\":6.7000,\"publicationDate\":\"2025-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12281115/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Thyroid\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1089/thy.2024.0641\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/6/5 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q1\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Thyroid","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1089/thy.2024.0641","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/6/5 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
Thyroid Carcinoma in Birt-Hogg-Dubé Syndrome: Case Series and Review of Literature.
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.
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.
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