Ferenc T, Maciaszczyk K, Gesing A, Lewiński A
Zakład Biologii i Genetyki Medycznej Katedry Nauk Patofizjologicznych Wojskowej Akademii Medycznej w Lodzi.
Postepy Hig Med Dosw. 1997;51(4):367-84.
This paper summarizes the current knowledge on the role of genetic factors in the development of thyroid neoplasms. The introduction of the methods and concepts of molecular genetics (as, e.g. recombinant DNA technology) have elucidated etiopathogenesis of the majority of thyroid tumours and, in the future, can make the diagnosis easier. Mutations of genes involved in the control of cellular growth and/or differentiation (ras, c-myc, RET, met) affect the development of thyroid neoplasms. Loss of heterozygosity (LOH) may suggest the presence of tumor suppressor genes and has been reported in thyroid follicular carcinomas. Activation of tyrosine kinase, whether by specific oncogene amplification or by rearrangement, appears to be highly specific for the transformation of thyroid follicular cells into papillary tumours. Cytogenetic studies have shown frequent clonal abnormalities in thyroid follicular adenomas and carcinomas.
本文总结了目前关于遗传因素在甲状腺肿瘤发生发展中作用的知识。分子遗传学方法和概念（如重组DNA技术）的引入阐明了大多数甲状腺肿瘤的病因，并且在未来能够使诊断更加容易。参与细胞生长和/或分化控制的基因（ras、c-myc、RET、met）的突变会影响甲状腺肿瘤的发生发展。杂合性缺失（LOH）可能提示肿瘤抑制基因的存在，并且在甲状腺滤泡癌中已有报道。酪氨酸激酶的激活，无论是通过特定癌基因扩增还是重排，似乎对于甲状腺滤泡细胞转化为乳头状肿瘤具有高度特异性。细胞遗传学研究表明，甲状腺滤泡性腺瘤和癌中经常存在克隆性异常。
