Department of Pathology, University of Miami School of Medicine, 1120 NW 14th Avenue, Miami, FL 33136, USA.
Endocr Pathol. 2010 Dec;21(4):219-26. doi: 10.1007/s12022-010-9135-6.
Familial follicular cell-derived well-differentiated thyroid cancer, papillary (PTC), and follicular thyroid carcinomas (FTC), accounts for 95% of thyroid malignancies. The majority of are sporadic, and at least 5% of these patients will have familial disease. Familial thyroid syndromes are classified into familial medullary thyroid carcinoma (FMTC), derived from calcitonin-producing C cells, and familial follicular cell tumors or non-medullary thyroid carcinoma (FNMTC), derived from follicular cells. Twenty-five percent of patients with medullary thyroid cancer (MTC) have a familial form; however, this accounts for only 1% of all patients with thyroid cancer. The familial follicular cell-derived lesions or familial non-medullary thyroid cancer can be divided into two clinical-pathological groups. The first group includes familial syndromes characterized by a predominance of non-thyroidal tumors, such as familial adenomatous polyposis (FAP), PTEN-hamartoma tumor syndrome (Cowden disease; PHTS), Carney complex, Werner syndrome, and Pendred syndrome. The second group includes familial syndromes characterized by predominance of papillary thyroid carcinoma (PTC), such as pure fPTC, fPTC associated with papillary renal cell carcinoma, and fPTC with multinodular goiter. Most of the progress in the genetics of familial thyroid cancer has been in patients with MTC. This is usually a component of multiple endocrine neoplasias IIA or IIB, or as pure familial medullary thyroid carcinoma syndrome. The genetic events in the familial C-cell-derived tumors are known and genotype-phenotype correlations are well established. The mutations in patients with isolated NMFTC have not been as well defined as in MTC. In many cases, patients have a known familial syndrome that has defined risk for thyroid cancer. The clinician must be knowledgeable in recognizing the possibility of an underlying familial syndrome when a patient presents with thyroid cancer. Some characteristic thyroid morphologic findings should alert the pathologist of a possible familial cancer syndrome, which may lead to further molecular genetics evaluation.
家族性滤泡细胞来源的甲状腺癌，包括甲状腺乳头状癌（PTC）和滤泡状甲状腺癌（FTC），占甲状腺恶性肿瘤的 95%。大多数为散发性，至少有 5%的患者存在家族性疾病。家族性甲状腺综合征分为家族性甲状腺髓样癌（FMTC），来源于产生降钙素的 C 细胞，和家族性滤泡细胞肿瘤或非甲状腺髓样癌（FNMTC），来源于滤泡细胞。25%的甲状腺髓样癌（MTC）患者有家族性形式；然而，这只占所有甲状腺癌患者的 1%。家族性滤泡细胞来源的病变或家族性非甲状腺癌可分为两个临床病理组。第一组包括以非甲状腺肿瘤为主的家族性综合征，如家族性腺瘤性息肉病（FAP）、PTEN-错构瘤肿瘤综合征（Cowden 病；PHTS）、Carney 综合征、Werner 综合征和 Pendred 综合征。第二组包括以甲状腺乳头状癌（PTC）为主的家族性综合征，如单纯性 PTC、伴乳头状肾细胞癌的 PTC 和伴多结节性甲状腺肿的 PTC。家族性甲状腺癌遗传学的大部分进展都在 MTC 患者中。这通常是多发性内分泌肿瘤 IIA 或 IIB 的一个组成部分，或作为单纯性家族性甲状腺髓样癌综合征。家族性 C 细胞来源肿瘤的遗传事件是已知的，基因型-表型相关性已得到很好的建立。孤立性非 MTC 患者的突变尚未像 MTC 那样明确。在许多情况下，患者有已知的家族综合征，对甲状腺癌有明确的风险。当患者出现甲状腺癌时，临床医生必须了解识别潜在家族综合征的可能性。一些特征性的甲状腺形态学发现应引起病理学家对可能的家族性癌症综合征的警惕，这可能导致进一步的分子遗传学评估。
