Hedayati M, Nabipour I, Rezaei-Ghaleh N, Azizi F
Endocrine Research Center, Shaheed Beheshti University of Medical Sciences, Tehran, Iran.
Med J Malaysia. 2006 Dec;61(5):564-9.
The susceptibility gene for hereditary Medullary Thyroid Carcinoma (MTC) is the RET proto-oncogene. The aim of this study was to evaluate the prevalence of common germline RET mutations in exons 10 and 11 among Iranian MTC patients. Fifty-seven non-related MTC patients were examined in this study (Females: Males =1.2:1.0, Mean age = 40.0 +/- 11.5 years) and the existence of mutations was assessed through the PCR-RFLP technique. The only Multiple Endocrine Neoplasia type 2A (MEN2A) patient displayed a C634W mutation in exon 11. Among 53 apparently sporadic MTC patients, one patient showed a C620R mutation in exon 10 and two other patients displayed C624Y mutations in exon 11 of RET proto-oncogene. Neither the only Multiple Endocrine Neoplasia type 2B (MEN2B) patient nor two Familial MTC patients was found to carry germline mutations in exons 10 and 11. This study reports, for the first time, the prevalence of common RET mutations among Iranian, apparently sporadic MTC patients, underlining the critical importance of screening for RET mutations in such patients.
遗传性甲状腺髓样癌（MTC）的易感基因是RET原癌基因。本研究的目的是评估伊朗MTC患者中外显子10和11中常见种系RET突变的发生率。本研究检查了57例无血缘关系的MTC患者（女性：男性=1.2:1.0，平均年龄=40.0±11.5岁），并通过PCR-RFLP技术评估突变的存在情况。唯一的2A型多发性内分泌腺瘤病（MEN2A）患者在外显子11中显示出C634W突变。在53例明显散发的MTC患者中，1例患者在外显子10中显示出C620R突变，另外2例患者在RET原癌基因的外显子11中显示出C624Y突变。唯一的2B型多发性内分泌腺瘤病（MEN2B）患者和2例家族性MTC患者在外显子10和11中均未发现种系突变。本研究首次报告了伊朗明显散发的MTC患者中常见RET突变的发生率，强调了对此类患者进行RET突变筛查的至关重要性。
