Multiple endocrine neoplasia-IIb with RET gene mutation p.M918T： A case report.
10.11817/j.issn.1672-7347.2020.190140
- Author:
Ping JIN
1
;
Wenmu HU
2
;
Youbo YANG
2
;
Xiaodan LONG
2
;
Zhaohui MO
3
Author Information
1. Department of Endocrinology, Third Xiangya Hospital, Central South University, Changsha 410013, China. jping7676@hotmail.com.
2. Department of Endocrinology, Third Xiangya Hospital, Central South University, Changsha 410013, China.
3. Department of Endocrinology, Third Xiangya Hospital, Central South University, Changsha 410013, China. easd04mzh@126.com.
- Publication Type:Journal Article
- Keywords:
RET gene;
medullary thyroid carcinoma;
multiple endocrine neoplasia-IIb;
pheochromocytoma
- MeSH:
Adrenal Gland Neoplasms;
Child;
Genes;
Humans;
Male;
Multiple Endocrine Neoplasia;
Multiple Endocrine Neoplasia Type 2a/genetics*;
Multiple Endocrine Neoplasia Type 2b/genetics*;
Mutation;
Proto-Oncogene Proteins c-ret/genetics*;
Thyroid Neoplasms/genetics*
- From:
Journal of Central South University(Medical Sciences)
2020;45(10):1261-1265
- CountryChina
- Language:English
-
Abstract:
Multiple endocrine neoplasia-IIb (MEN-IIb) is a rare hereditary autosomal dominant syndrome caused by mutations in the RET proto-oncogene. It's characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO), mucosal neuromas, and Marfanoid habitus. Because of the rarity of MEN-IIb and finiteness of clinical cognition, the majority of the patients suffer a delayed diagnosis. A MEN-IIb patient with the lingual mucosal neuromas since childhood was admitted in the Third Xiangya Hospital of Central South University in November, 2018. He had surgical history of mitral valve prolapse and spinal deformity. He was diagnosed with MTC and PHEO at the age of 22 and 28, respectively, and received surgical treatments. Sequencing of RET gene revealed a de novo heterozygous p.M918T mutation in the patient. Being aware of the unique clinical phenotype and screening of RET gene mutation may lead to the early diagnosis and better long-term outcome for MEN-IIb.
