Chen Zhenguang, Qi Xiaoping, Fei Jun, Yu Xiuhua, Zhao Yan, Zhao Jianqiang, Jin Hangyang, Wang Jinquan, Ying Rongbiao, Zhang Xianning
Department of Oncologic and Urologic Surgery, the 117th Hospital of Peoples Liberation Army, Hangzhou, Zhejiang 310004, P.R. China. Email:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Jun;31(3):348-51. doi: 10.3760/cma.j.issn.1003-9406.2014.03.020.
To explore the clinical characteristics and significance of RET proto-oncogene screening in multiple endocrine neoplasia type 2A (MEN2A).
Comprehensive medical history was obtained for 5 members from a 3-generation family from southern China. Clinical investigations have included biochemical testing, imaging, and screening of germline RET proto-oncogene mutations.
Genetic screening has revealed a missense mutation at codon 618(TGC>CGC) of exon 10 in 3 patients(p.C618R), which was consistent with their clinical manifestations. For the 3 individuals, the age at diagnosis was 21, 26 and 36 yr, and the maximum diameter of medullary thyroid carcinoma was 22, 25 and 39 cm, respectively. The 36-year-old female patient initially underwent right total thyroidectomy plus right neck lymph node dissection. Four years later, she again underwent left adrenal tumorectomy and left total thyroidectomy plus left neck lymph node dissection. The 21-year-old male patient underwent right total thyroidectomy plus right modified neck dissection. The follow-up was respectively 146 and 26 months following the initial operation. Two patients still presented elevated calcitonin and had bilateral neck lymph node masses and/or left thyroid masses on imaging examination. The 26-year-old female patient, who presented bilateral thyroid masses and elevated calcitonin, has refused thyroidectomy.
Combined family survey and RET gene screening can facilitate early diagnosis and surgical treatment to improve the prognosis.
探讨2A型多发性内分泌腺瘤（MEN2A）中RET原癌基因筛查的临床特征及意义。
对来自中国南方一个三代家族的5名成员进行全面病史采集。临床检查包括生化检测、影像学检查以及种系RET原癌基因突变筛查。
基因筛查发现3例患者第10外显子密码子618（TGC>CGC）处存在错义突变（p.C618R），这与他们的临床表现相符。这3例患者确诊时的年龄分别为21岁、26岁和36岁，甲状腺髓样癌的最大直径分别为22 cm、25 cm和39 cm。36岁女性患者最初接受了右全甲状腺切除术加右颈部淋巴结清扫术。4年后，她再次接受了左肾上腺肿瘤切除术以及左全甲状腺切除术加左颈部淋巴结清扫术。21岁男性患者接受了右全甲状腺切除术加右改良颈部清扫术。初次手术后的随访时间分别为146个月和26个月。2例患者降钙素仍升高，影像学检查显示双侧颈部淋巴结肿块和/或左侧甲状腺肿块。26岁女性患者出现双侧甲状腺肿块且降钙素升高，拒绝接受甲状腺切除术。
联合家族调查和RET基因筛查有助于早期诊断和手术治疗，从而改善预后。
