肿瘤预防与治疗2025，Vol.38Issue(6)：464-472,9.DOI:10.3969/j.issn.1674-0904.2025.06.003
RET基因复合突变pC634Y/pD707E的MEN2A型家系成员的临床表型特点及处理策略
The Clinical Phenotype Characteristics and Management Strategies of a Family with Multiple Endocrine Neoplasia Type 2A(MEN2A)and Com-pound RET Gene Mutations pC634Y/pD707E
摘要
Abstract
Objective:To investigate the clinical phenotype characteristics and management strategies of family members with hereditary medullary thyroid carcinoma(HMTC)carrying the RET(rearranged during transfection)proto-oncogene compound germline mutations pC634Y/pD707E.Methods:We collected data from an HMTC pedigree and conducted a full codon analysis of the RET proto-oncogene in the patient and family members,in order to identify the compound germ-line mutations pC634Y/pD707E in the RET proto-oncogene.Data from another family carrying the pC634Y germline muta-tion,previously studied by our research group,were also included to compare their clinical phenotype characteristics.Addi-tionally,in vitro cell wound healing assays were performed to assess the invasive ability of cells harboring the compound RET mutation.Results:Amony the 135 family members,102 underwent full codon testing of the RET proto-oncogene,with 33 members were positive for to carry the compound mutation(5 asymptomatic carriers,18 HMTC patients,4 HMTC patients with coexisting pheochromocytoma,and 6 suspected cases).One HMTC patient successfully gave birth to a healthy baby girl through genetic blocking,and genetic testing of the infant revealed no RET gene mutation.Among the 28 HMTC patients,6 had passed away.A total of 22 HMTC patients were followed for a period ranging from 22 to 362 months,with an average fol-low-up time of(198.23±44.30)months.There were no significant differences between the family carrying compaund gerin-line mutation and the family carrying pC634Y mutation in terms of diagnostic age,gender,bilateral gland involvement,pri-mary tumor size,lymph node metastasis,clinical stage,or distant metastasic rate.In vitro experiments showed no significant difference in cell migration rates between the pC634Y/pD707E compound mutation group and the single-point mutation groups(pC634Y and pD707E).Conclusion:The management strategies for HMTC patients and asymptomatic carriers of the RET compound mutation pC634Y/pD707E can be based on the principles used for pC634Y mutation carriers.These pa-tients belong to the ATA-H risk group,and genetic blocking measures can be considered for mutation carriers or patients of childbearing age to prevent hereditary transmission.关键词
甲状腺髓样癌/RET原癌基因/遗传性甲状腺癌Key words
Medullary thyroid carcinoma/RET proto-oncogene/Hereditary thyroid carcinoma分类
临床医学引用本文复制引用
齐欣萌,李婉欣,陈晓红,许洪波..RET基因复合突变pC634Y/pD707E的MEN2A型家系成员的临床表型特点及处理策略[J].肿瘤预防与治疗,2025,38(6):464-472,9.基金项目
This study was supported by Training Plan for High level Public Health Technical Talents Construction Project(No.Leading Talents-03-07)and Beijing Hospital Management Center'Ascending the Peak'Tal-ent Training Program(No.DFL20220201). 高层次公共卫生技术人才建设项目培养计划(编号:领军人才-03-07) （No.Leading Talents-03-07）
北京市医院管理中心"登峰"人才培养计划(编号:DFL20220201) （编号:DFL20220201）
