Barbara Perić, Department of Surgical Oncology, Institute of Oncology Ljubljana, Zaloška 2, 1000 Ljubljana, Slovenia,
Croat Med J. 2021 Apr 30;62(2):110-119. doi: 10.3325/cmj.2021.62.110.
To determine the frequency and type of RET mutation in Slovenian medullary thyroid cancer (MTC) patients and estimate the crude annual incidence of MTC in Slovenia.
This referral-center retrospective analysis involved 186 MTC patients diagnosed between 1995 and 2015 and their relatives who underwent genetic counseling and testing. The crude incidence rate of MTC was estimated with the joinpoint regression analysis. Genomic DNA was isolated, and exons 10, 11, 13, 14, 15, and 16 of the RET proto-oncogene were amplified with polymerase chain reaction. Point mutations of the RET gene were detected by single-strand conformation analysis and DNA sequencing. Detected mutations were confirmed by restriction enzymes.
The average crude annual incidence rate of MTC in Slovenia was 0.34/100,000. A germline mutation in the RET proto-oncogene was identified in 25.9% of MTC patients. The most frequently altered codons were codons 634 and 618, followed by codon 790, codon 804, and codon 918.
Annual incidence increase and nation-specific frequency of RET mutations justify the future use of genetic counseling and testing of MTC patients in Slovenia.
确定斯洛文尼亚甲状腺髓样癌（MTC）患者中 RET 突变的频率和类型，并估计斯洛文尼亚 MTC 的粗发病率。
这是一项回顾性分析，涉及 1995 年至 2015 年间诊断的 186 名 MTC 患者及其接受遗传咨询和检测的亲属。采用 joinpoint 回归分析估计 MTC 的粗发病率。提取基因组 DNA，采用聚合酶链反应扩增 RET 原癌基因的外显子 10、11、13、14、15 和 16。采用单链构象分析和 DNA 测序检测 RET 基因突变。通过限制性内切酶检测突变。
斯洛文尼亚 MTC 的平均粗年发病率为 0.34/100,000。25.9%的 MTC 患者存在 RET 原癌基因突变。最常改变的密码子是 634 位和 618 位密码子，其次是 790 位、804 位和 918 位密码子。
发病率的年度增长和特定国家的 RET 突变频率证明了未来在斯洛文尼亚对 MTC 患者进行遗传咨询和检测的合理性。
