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RET proto-oncogene mutations are restricted to codons 634 and 918 in mainland Chinese families with MEN2A and MEN2B.
Clin Endocrinol (Oxf). 2007 Oct; 67(4):570-6.CE

Abstract

OBJECTIVE

Multiple endocrine neoplasia type 2 is caused by autosomal dominant gain-of-function mutations in the RET proto-oncogene, which includes multiple endocrine neoplasia type 2A (MEN2A), type 2B (MEN 2B), and familial medullary thyroid carcinoma (FMTC). In this paper we present the phenotype-genotype correlation of 20 unrelated Chinese families with 15 cases of MEN2A and five cases of MEN2B.

DESIGN

Cross-sectional study.

PATIENTS

A total of 147 members from the 20 families were included. Among them, 119 family members were from MEN2A pedigrees (including 15 MEN2A probands) and 28 members from MEN2B pedigrees (including five MEN2B probands).

MEASUREMENTS

Genomic DNA was isolated from peripheral blood leucocytes and was amplified using polymerase chain reaction (PCR). DNA analysis for RET mutations in exons 8, 10, 11, 13, 14, 15 and 16 was performed with specific primers.

RESULTS

Thirty-seven MEN2A and five MEN2B patients were identified as having RET mutations. The incidence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC) and hyperparathyroidism (HPT) in the 37 MEN2A patients was 91.9, 56.8 and 10.8%, respectively; the onset of MTC in MEN2A patients was earlier than that of PCC and HPT. Five germline mutations, all located at codon 634 of exon11 in the RET proto-oncogene, were detected in all of the 37 MEN2A patients. The highest frequency of the five germline mutations was C634Y (46.7%), followed by C634R (26.7%), C634W (13.3%), C634F (6.7%) and C634S (6.7%). No statistical significance was found between the incidence of PCC and different genotypes of codon 634 in MEN2A patients, whereas the incidence of HPT was closely associated with C634R and C634Y. The gene mutation (M918T) at exon16 of the RET proto-oncogene was present in five MEN2B probands.

CONCLUSIONS

RET proto-oncogene mutations were restricted to codon 634 and 918 in Chinese families with MEN2A and MEN2B. In general the genetic characteristics of these patients with MEN2A and MEN2B reflect the general pattern around the world and it remains to be determined with larger studies in China whether Chinese patients have a different genetic pattern of mutations.

Authors+Show Affiliations

Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Key Laboratory for Endocrine Tumors, Ruijin Hospital, Jiao Tong University, Shanghai.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17573899

Citation

Zhou, Yulin, et al. "RET Proto-oncogene Mutations Are Restricted to Codons 634 and 918 in Mainland Chinese Families With MEN2A and MEN2B." Clinical Endocrinology, vol. 67, no. 4, 2007, pp. 570-6.
Zhou Y, Zhao Y, Cui B, et al. RET proto-oncogene mutations are restricted to codons 634 and 918 in mainland Chinese families with MEN2A and MEN2B. Clin Endocrinol (Oxf). 2007;67(4):570-6.
Zhou, Y., Zhao, Y., Cui, B., Gu, L., Zhu, S., Li, J., Liu, J., Yin, M., Zhao, T., Yin, Z., Yu, C., Chen, C., Wang, L., Xiao, B., Hong, J., Zhang, Y., Tang, Z., Wang, S., Li, X., & Ning, G. (2007). RET proto-oncogene mutations are restricted to codons 634 and 918 in mainland Chinese families with MEN2A and MEN2B. Clinical Endocrinology, 67(4), 570-6.
Zhou Y, et al. RET Proto-oncogene Mutations Are Restricted to Codons 634 and 918 in Mainland Chinese Families With MEN2A and MEN2B. Clin Endocrinol (Oxf). 2007;67(4):570-6. PubMed PMID: 17573899.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - RET proto-oncogene mutations are restricted to codons 634 and 918 in mainland Chinese families with MEN2A and MEN2B. AU - Zhou,Yulin, AU - Zhao,Yongju, AU - Cui,Bin, AU - Gu,Liqun, AU - Zhu,Shaoxin, AU - Li,Jianjun, AU - Liu,Jinbo, AU - Yin,Ming, AU - Zhao,Tieyun, AU - Yin,Zhiqiang, AU - Yu,Chaoli, AU - Chen,Changyou, AU - Wang,Liming, AU - Xiao,Buyun, AU - Hong,Jie, AU - Zhang,Yifei, AU - Tang,Zhengyi, AU - Wang,Shu, AU - Li,Xiaoying, AU - Ning,Guang, Y1 - 2007/06/15/ PY - 2007/6/19/pubmed PY - 2008/5/2/medline PY - 2007/6/19/entrez SP - 570 EP - 6 JF - Clinical endocrinology JO - Clin Endocrinol (Oxf) VL - 67 IS - 4 N2 - OBJECTIVE: Multiple endocrine neoplasia type 2 is caused by autosomal dominant gain-of-function mutations in the RET proto-oncogene, which includes multiple endocrine neoplasia type 2A (MEN2A), type 2B (MEN 2B), and familial medullary thyroid carcinoma (FMTC). In this paper we present the phenotype-genotype correlation of 20 unrelated Chinese families with 15 cases of MEN2A and five cases of MEN2B. DESIGN: Cross-sectional study. PATIENTS: A total of 147 members from the 20 families were included. Among them, 119 family members were from MEN2A pedigrees (including 15 MEN2A probands) and 28 members from MEN2B pedigrees (including five MEN2B probands). MEASUREMENTS: Genomic DNA was isolated from peripheral blood leucocytes and was amplified using polymerase chain reaction (PCR). DNA analysis for RET mutations in exons 8, 10, 11, 13, 14, 15 and 16 was performed with specific primers. RESULTS: Thirty-seven MEN2A and five MEN2B patients were identified as having RET mutations. The incidence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC) and hyperparathyroidism (HPT) in the 37 MEN2A patients was 91.9, 56.8 and 10.8%, respectively; the onset of MTC in MEN2A patients was earlier than that of PCC and HPT. Five germline mutations, all located at codon 634 of exon11 in the RET proto-oncogene, were detected in all of the 37 MEN2A patients. The highest frequency of the five germline mutations was C634Y (46.7%), followed by C634R (26.7%), C634W (13.3%), C634F (6.7%) and C634S (6.7%). No statistical significance was found between the incidence of PCC and different genotypes of codon 634 in MEN2A patients, whereas the incidence of HPT was closely associated with C634R and C634Y. The gene mutation (M918T) at exon16 of the RET proto-oncogene was present in five MEN2B probands. CONCLUSIONS: RET proto-oncogene mutations were restricted to codon 634 and 918 in Chinese families with MEN2A and MEN2B. In general the genetic characteristics of these patients with MEN2A and MEN2B reflect the general pattern around the world and it remains to be determined with larger studies in China whether Chinese patients have a different genetic pattern of mutations. SN - 0300-0664 UR - https://www.unboundmedicine.com/medline/citation/17573899/RET_proto_oncogene_mutations_are_restricted_to_codons_634_and_918_in_mainland_Chinese_families_with_MEN2A_and_MEN2B_ L2 - https://doi.org/10.1111/j.1365-2265.2007.02927.x DB - PRIME DP - Unbound Medicine ER -