Clinical manifestation and genetic analysis of multiple endocrine neoplasia 2A with papillary thyroid carcinoma
10.16066/j.1672-7002.2024.12.002
- VernacularTitle:多发性内分泌腺瘤病2A型合并甲状腺乳头状癌家系临床特点及基因分析
- Author:
Yuxiao DU
1
;
Jinmiao WANG
;
Xinmeng QI
;
Xiaohong CHEN
Author Information
1. 天津市人民医院 耳鼻咽喉头颈外科,天津 300122
- Keywords:
Thyroid Neoplasms;
Carcinoma,Medullary;
multiple endocrine neoplasia 2;
RET mutation
- From:
Chinese Archives of Otolaryngology-Head and Neck Surgery
2024;31(12):755-760
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE To investigate the clinical features and gene mutations of Multiple endocrine neoplasia 2A(MEN2A)combined with papillary thyroid carcinoma(PTC),and to provide reference for clinical treatment.METHODS A systematic clinical investigation was conducted on a pedigree of a patient with MEN2A combined with papillary thyroid carcinoma,and the clinical case data of family members(3 generations and 5 people)with MEN2A combined with papillary thyroid carcinoma were analyzed.Genomic DNA was extracted from the peripheral blood of family members,high-throughput sequencing was performed,and the target gene mutation sites were detected by Sanger sequencing.RESULTS Heterozygous mutations of C634W in exon 11 of the RET gene were found in 4 patients in this pedigree.Sanger sequencing was used to detect the target gene mutation sites,and the common mutation gene was RET gene mutation:exon11:c.1902C>G(p.Cys634Trp)site had a heterozygous mutation,which was a germline mutation.The proband in the family was diagnosed with bilateral medullary thyroid carcinoma of the thyroid gland,the proband's sister had bilateral medullary thyroid carcinoma of the thyroid gland,the proband's mother had bilateral medullary thyroid carcinoma of the thyroid gland with bilateral micro papillary carcinoma,accompanied by pheochromocytoma and cutaneous amyloidosis on the back,the proband's aunt had bilateral medullary thyroid carcinoma of the thyroid gland with right papillary carcinoma,accompanied by cutaneous amyloidosis on the back,and the proband's grandfather had bilateral medullary thyroid carcinoma of the thyroid gland with left papillary carcinoma,accompanied by cutaneous amyloidosis on the back.CONCLUSION There is a RET gene germline mutation in the pedigree of MEN2A combined with papillary thyroid carcinoma,and the mutation site is a heterozygous mutation of exon 11 C634W.Genetic mutation screening should be carried out as early as possible for family members of MEN2A with papillary thyroid carcinoma to provide guidance for early clinical diagnosis and treatment.
