Department of Pathology, Clinical University Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela, Galician Healthcare Service (SERGAS), Santiago de Compostela, Spain.
Department of Medical Oncology, University Hospital Complex of Ourense, Galician Healthcare Service (SERGAS), Ourense, Spain.
Front Endocrinol (Lausanne). 2022 Feb 28;13:829103. doi: 10.3389/fendo.2022.829103. eCollection 2022.
Thyroid cancer is the malignant tumor that is increasing most rapidly in the world, mainly at the expense of sporadic papillary thyroid carcinoma. The somatic alterations involved in the pathogenesis of sporadic follicular cell derived tumors are well recognized, while the predisposing alterations implicated in hereditary follicular tumors are less well known. Since the genetic background of syndromic familial non-medullary carcinoma has been well established, here we review the pathogenesis of non-syndromic familial non-medullary carcinoma emphasizing those aspects that may be useful in clinical and pathological diagnosis. Non-syndromic familial non-medullary carcinoma has a complex and heterogeneous genetic basis involving several genes and loci with a monogenic or polygenic inheritance model. Most cases are papillary thyroid carcinoma (classic and follicular variant), usually accompanied by benign thyroid nodules (follicular thyroid adenoma and/or multinodular goiter). The possible diagnostic and prognostic usefulness of the changes in the expression and/or translocation of various proteins secondary to several mutations reported in this setting requires further confirmation. Given that non-syndromic familial non-medullary carcinoma and sporadic non-medullary thyroid carcinoma share the same morphology and somatic mutations, the same targeted therapies could be used at present, if necessary, until more specific targeted treatments become available.
甲状腺癌是世界上增长最快的恶性肿瘤，主要是散发性乳头状甲状腺癌。散发性滤泡细胞来源肿瘤发病机制中涉及的体细胞改变已得到充分认识，而遗传性滤泡肿瘤中涉及的易感性改变则知之甚少。由于综合征性家族性非髓样癌的遗传背景已经得到很好的确定，因此在这里我们回顾了非综合征性家族性非髓样癌的发病机制，重点介绍了在临床和病理诊断中可能有用的方面。非综合征性家族性非髓样癌具有复杂且异质性的遗传基础，涉及几个具有单基因或多基因遗传模式的基因和位点。大多数病例为乳头状甲状腺癌（经典型和滤泡型变异型），通常伴有良性甲状腺结节（滤泡状甲状腺腺瘤和/或多结节性甲状腺肿）。在这种情况下报告的几种突变导致的各种蛋白质表达和/或易位改变的可能诊断和预后有用性需要进一步确认。鉴于非综合征性家族性非髓样癌和散发性非髓样甲状腺癌具有相同的形态和体细胞突变，如果需要，目前可以使用相同的靶向治疗方法，直到出现更具特异性的靶向治疗方法。
