Mutations inDICER1, a gene involved in RNA interference, have been associated with a wide range of multi-organ neoplastic and non-neoplastic conditions. Historically known for its association with pleuropulmonary blastoma, DICER1 syndrome has received more attention due to the association with newly discovered diseases and tumors. Recent studies evaluatingDICER1mutations and DICER1-driven thyroid disease in both pediatric and adult thyroid nodules revealed thyroid disease as the most common manifestation ofDICER1mutations. This study undertakes a comprehensive investigation intoDICER1mutations, focusing on their role in thyroid diseases. Specific attention was given to thyroid follicular nodular disease and differentiated thyroid carcinomas in infancy as highly indicative of germlineDICER1mutation or DICER1 syndrome. Additionally, poorly differentiated thyroid carcinoma and thyroblastoma were identified as potential indicators of somaticDICER1mutations. Recognizing these manifestations should prompt clinicians to expedite genetic evaluation for this neoplastic syndrome and classify these patients as high risk for additional multi-organ malignancies. This study comprehensively synthesizes the current knowledge surrounding this genetically associated entity, providing intricate details on histologic findings to facilitate its diagnosis.
DICER1基因作为参与RNA干扰的关键基因，其突变与多种多器官肿瘤性和非肿瘤性疾病相关。历史上因与胸膜肺母细胞瘤的关联而为人所知，随着新发疾病及肿瘤的发现，DICER1综合征受到更多关注。近期针对儿童及成人甲状腺结节中DICER1突变及其驱动甲状腺疾病的研究显示，甲状腺疾病已成为DICER1突变最常见的临床表现。本研究对DICER1突变展开系统性探究，重点关注其在甲状腺疾病中的作用。特别指出甲状腺滤泡结节性病变及婴幼儿分化型甲状腺癌高度提示种系DICER1突变或DICER1综合征的存在。此外，低分化甲状腺癌与甲状腺母细胞瘤可能成为体细胞DICER1突变的潜在标志。识别这些临床表现应促使临床医生加速对此类肿瘤综合征的遗传学评估，并将此类患者归类为多器官恶性肿瘤高风险人群。本研究全面整合了当前关于该遗传相关疾病的知识体系，通过详尽的组织学发现描述为临床诊断提供重要依据。
Expanding Our Knowledge ofDICER1Gene Alterations and Their Role in Thyroid Diseases
肿瘤(癌症)患者之家