Birt-Hogg-Dubé综合征中的甲状腺癌：病例系列及文献综述
Thyroid Carcinoma in Birt-Hogg-Dubé Syndrome: Case Series and Review of Literature.
作者信息
Vaid Sonal, Chuki Elias, Veeraraghavan Padmasree, Jedlinski-Obrzut Mikolaj, Bukhari Khulood, Klubo-Gwiezdzinska Joanna, Gubbi Sriram
机构信息
National Institutes of Health Clinical Center, Bethesda, Maryland, USA.
Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA.
出版信息
Thyroid. 2025 Jul;35(7):828-835. doi: 10.1089/thy.2024.0641. Epub 2025 Jun 5.
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 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 , , and . 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 (). Gene query analysis ( = 2285 patients) identified 2% 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. TCs are rare in BHD. PVs may not be the sole molecular drivers in TCs but may have a substantial role in the development of aggressive TCs.
甲状腺癌（TC）在Birt-Hogg-Dubé（BHD）综合征中很少见。我们描述了3例患有TC的BHD患者，并回顾了相关文献。患者1为一名55岁患有BHD的男性，发生了去分化嗜酸细胞性TC并伴有远处转移，需要进行全身治疗和放疗。基因检测发现了[具体基因名称1]、[具体基因名称2]和[具体基因名称3]中的致病变异（PVs）。患者2为一名51岁女性，她30岁的女儿（患者3）被诊断为乳头状TC，并接受了手术和放射性碘治疗。患者3的肿瘤检测显示[具体基因名称4]存在PV（[具体变异情况]）。基因查询分析（n = 2285例患者）发现散发性TC中PV患病率为2%，但在间变性TC中患病率增至23%。文献回顾显示BHD中有15例TC病例，临床表现多样。TC在BHD中很罕见。PVs可能不是TC的唯一分子驱动因素，但可能在侵袭性TC的发生发展中起重要作用。
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