GERM-LINE MUTATIONS OF THE RET PROTOONCOGENE IN JAPANESE PATIENTS WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A AND TYPE 2B

被引:12
作者
MARUYAMA, S
IWASHITA, T
IMAI, T
FUNAHASHI, H
CECCHERINI, I
LUO, Y
ROMEO, G
MATSUO, S
MATSUYAMA, N
TAKAHASHI, M
机构
[1] NAGOYA UNIV,SCH MED,DEPT PATHOL,SHOWA KU,NAGOYA,AICHI 466,JAPAN
[2] NAGOYA UNIV,SCH MED,DEPT SURG 2,SHOWA KU,NAGOYA,AICHI 466,JAPAN
[3] NAGOYA UNIV,SCH MED,DEPT INTERNAL MED 3,SHOWA KU,NAGOYA,AICHI 466,JAPAN
[4] IST GIANNINA GASLINI,GENET MOLEC LAB,I-16148 GENOA,ITALY
来源
JAPANESE JOURNAL OF CANCER RESEARCH | 1994年 / 85卷 / 09期
关键词
MEN; 2A; 2B; RET PROTOONCOGENE; GERM LINE MUTATION;
D O I
10.1111/j.1349-7006.1994.tb02962.x
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
We investigated mutations of the ret proto-oncogene in Japanese patients with multiple endocrine neoplasia (MEN) type 2A and type 2B. DNAs from pheochromocytomas and/or medullary thyroid carcinomas (MTCs) of five MEN 2A and three MEN 2B patients were amplified by a polymerase chain reaction (PCR) and analyzed. Tumors of four MEN 2A patients had missense mutations in Cys 634 in the extracellular domain of the ret proto-oncogene. The same mutations were detected in normal tissues of the patients, indicating that the mutations had arisen in the germ line. Using a reverse transcriptase(RT)-PCR, both normal and mutant transcripts of the ret proto-oncogene were detected in a tumor of one patient with MEN 2A mutation. In addition, three MEN 2B patients examined had the same point mutation (ATG-->ACG) at codon 918 in the tyrosine kinase domain of the ret proto-oncogene. Since all mutations identified in this study generated new restriction enzyme sites or eliminated a restriction site, the mutant alleles of affected family members could be readily detected without sequencing.
引用
收藏
页码:879 / 882
页数:4
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