CAJ | 학술논문

甲状腺髓样癌是甲状腺滤泡旁C细胞来源的肿瘤,以分泌降钙素为特征,其中20％～ 25％为家族遗传性,与其他类型的甲状腺恶性肿瘤相比,具有发病年龄较轻,易复发、易转移、预后较差的特点.RET基因突变在临床表型和基因型间有着良好的相关性.本文详细介绍1例遗传性甲状腺髓样癌的诊治和术后随访情况以及患者及家系成员RET基因筛查结果,以使临床医生重视甲状腺髓样癌的诊治.
갑상선수양암시갑상선려포방C세포래원적종류,이분비강개소위특정,기중20％～ 25％위가족유전성,여기타류형적갑상선악성종류상비,구유발병년령교경,역복발、역전이、예후교차적특점.RET기인돌변재림상표형화기인형간유착량호적상관성.본문상세개소1례유전성갑상선수양암적진치화술후수방정황이급환자급가계성원RET기인사사결과,이사림상의생중시갑상선수양암적진치.
Medullary thyroid cancer (MTC) is characterized hy the secretion of calcitonin that is derived from parafollicular cells.20％-25％ of MTC are hereditary.Compared with other types of thyroid cancer,MTC is prone to recurrence,metastasis,and younger onset age.RET gene germline mutation accounts for the hereditary MTC,and somatic mutation is responsible for part of sporadic cases.A good correlation between phenotype and genotype is reported.We present in this article a case of medullary thyroid cancer patient with genetic diagnosis and treatment as well as postoperative follow-up together with RET gene screening results in her family members in order to call attention to the diagnosis and treatment of MTC.