Patocs Attila, Klein Izabella, Szilvasi Aniko, Gergics Peter, Toth Miklos, Valkusz Zsuzsa, Forizs Erzsebet, Igaz Peter, Al-Farhat Yousuf, Tordai Attila, Varadi Andras, Racz Karoly, Esik Olga
2nd Department of Medicine, Faculty of Medicine, Semmelweis University, Szentkiralyi u. 46, 1088 Budapest, Hungary.
Wien Klin Wochenschr. 2006 Jul;118(13-14):417-21. doi: 10.1007/s00508-006-0635-9.
The genotype and phenotype characteristics of Hungarian patients with RET proto-oncogene mutations operated on for hereditary medullary thyroid cancer (MTC) were studied. The genetic screening was performed in two centers and 40 patients with hereditary MTC or C-cell hyperplasia (CCH) from 18 unrelated families were analyzed. One patient having a mutation in exon 16 (Met918Thr) presented with the MEN2B phenotype, six patients from two families had hereditary MTC without pheochromocytoma (pheo) and primary hyperparathyroidism (PHPT), whereas 33 patients from 15 families showed the MEN2A phenotype. Two different mutations were identified in exon 10 (Cys609Tyr and Cys609Ser), five different mutations were present in exon 11 (Cys634Phe, Cys634Arg, Cys634Tyr, Cys634Trp and Cys634Ser), and two different mutations were localized in exon 14 (Val804Met and Val804Leu). Mutations in exon 10 were associated with hereditary MTC (Cys609Tyr) or with MEN2A syndrome (Cys609Ser). Mutations in exon 11 were always associated with the MEN2A phenotype. PHPT was present in one patient with mutation in exon 14 (Val804Met), whereas all other patients affected with mutations in exon 14 had hereditary MTC without PHPT and/or pheos.
对因遗传性甲状腺髓样癌（MTC）接受手术的匈牙利患者的RET原癌基因突变的基因型和表型特征进行了研究。在两个中心进行了基因筛查，分析了来自18个无关家庭的40例遗传性MTC或C细胞增生（CCH）患者。1例16外显子突变（Met918Thr）的患者表现出MEN2B表型，来自两个家庭的6例患者患有无嗜铬细胞瘤（pheo）和原发性甲状旁腺功能亢进（PHPT）的遗传性MTC，而来自15个家庭的33例患者表现出MEN2A表型。在10外显子中鉴定出两种不同的突变（Cys609Tyr和Cys609Ser），在11外显子中存在五种不同的突变（Cys634Phe、Cys634Arg、Cys634Tyr、Cys634Trp和Cys634Ser），在14外显子中定位了两种不同的突变（Val804Met和Val804Leu）。10外显子中的突变与遗传性MTC（Cys609Tyr）或MEN2A综合征（Cys609Ser）相关。11外显子中的突变总是与MEN2A表型相关。1例14外显子突变（Val804Met）的患者存在PHPT，而所有其他受14外显子突变影响的患者患有无PHPT和/或pheo的遗传性MTC。
