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遗传性甲状腺癌分两大类:家族性非髓样甲状腺癌(FNMTC)和遗传性甲状腺髓样癌(HMTC)。前者可单独发生或仅作为某一家族性肿瘤综合征的少见部分,后者则可分为多发性内分泌肿瘤2a型(MEN-2a)、多发性内分泌肿瘤2b型(MEN-2b)和家族性甲状腺髓样癌(FMTC)。FNMTC由抑癌基因突变引起,外显率不高,但多为多发性病灶,较散发病例更具侵袭性,局部浸润常见,易早期转移,复发率高。而HMTC是一种由原癌基因RET突变所致的高外显率的单基因显性遗传性疾病。早期诊断很重要,通过基因测序可发现无症状病例,并依照基因突变类型,决定预防性全甲状腺切除手术时机。
Hereditary thyroid cancer fall into two categories: familial non-myeloid thyroid cancer (FNMTC) and hereditary medullary thyroid carcinoma (HMTC). The former can occur alone or as a rare part of a familial tumor syndrome, the latter can be divided into multiple endocrine neoplasia type 2a (MEN-2a), multiple endocrine neoplasia type 2b (MEN-2b) and familial Medullary thyroid carcinoma (FMTC). FNMTC by tumor suppressor gene mutations, penetrance is not high, but mostly multiple lesions, more disseminated cases more invasive, local infiltration common, easy to early transfer, the recurrence rate. HMTC is a high-penetrance single-gene dominant inherited disorder caused by the RET mutation of proto-oncogene. Early diagnosis is very important, asymptomatic cases can be found by gene sequencing, and in accordance with the type of gene mutation, determine the timing of preventive total thyroidectomy.