title: [Multiple endocrine neoplasia type 2A caused by a p.C618R RET proto-oncogene mutation in a Chinese pedigree].
abstract: OBJECTIVE
  To explore the clinical characteristics and significance of RET proto-oncogene screening in multiple endocrine neoplasia type 2A (MEN2A).
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  Combined family survey and RET gene screening can facilitate early diagnosis and surgical treatment to improve the prognosis.
authors.affiliation: Department of Oncologic and Urologic Surgery, the 117th Hospital of Peoples Liberation Army, Hangzhou, Zhejiang 310004, P.R. China. Email: qxplmd@vip.sina.com.
authors.forename: Zhenguang
authors.initials: Z
authors.lastname: Chen
authors.forename: Xiaoping
authors.initials: X
authors.lastname: Qi
authors.forename: Jun
authors.initials: J
authors.lastname: Fei
authors.forename: Xiuhua
authors.initials: X
authors.lastname: Yu
authors.forename: Yan
authors.initials: Y
authors.lastname: Zhao
authors.forename: Jianqiang
authors.initials: J
authors.lastname: Zhao
authors.forename: Hangyang
authors.initials: H
authors.lastname: Jin
authors.forename: Jinquan
authors.initials: J
authors.lastname: Wang
authors.forename: Rongbiao
authors.initials: R
authors.lastname: Ying
authors.forename: Xianning
authors.initials: X
authors.lastname: Zhang
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D018278:Carcinoma, Neuroendocrine; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D018813:Multiple Endocrine Neoplasia Type 2a / Q000201:enzymology* / Q000235:genetics*; D020125:Mutation, Missense; D010375:Pedigree; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000201:enzymology* / Q000235:genetics*; D055815:Young Adult
chemical_list: C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human