Klugbauer S, Demidchik E P, Lengfelder E, Rabes H M
Institute of Pathology, Ludwig Maximilians University of Munich, Germany.
Oncogene. 1998 Feb 5;16(5):671-5. doi: 10.1038/sj.onc.1201526.
A high prevalence of RET rearrangements is found in papillary thyroid carcinomas (PTC) of children from Belarus after the Chernobyl reactor accident. The ELE/RET rearrangement (PTC3) is prevailing. Aberrant types of ELE/RET rearrangement have been found with a truncated ELE1 gene: As compared with the common form (PTC3r1) one aberrant type is shorter by one 144 bp exon (PTC3r2) (three cases); in the second atypic form (PTC3r3) the ELE1 part is 18 bp shorter than in PTC3r1. In agreement with the observation that the oncogenic RET is generated by a paracentric inversion at chromosome 10, we found not only ELE/RET, but also RET/ELE transcripts in these tumors. Sequencing of the breakpoint regions at the genomic DNA level revealed DNA modifications that might be relevant for illegitimate recombination after DNA doublestrand breaks. The high prevalence of ELE/RET rearrangements and various subtypes appears to be typical for radiation-induced thyroid carcinomas of children after the Chernobyl reactor accident.
在切尔诺贝利反应堆事故后白俄罗斯儿童的甲状腺乳头状癌（PTC）中发现RET重排的高发生率。ELE/RET重排（PTC3）占主导地位。已发现ELE/RET重排的异常类型，其ELE1基因截短：与常见形式（PTC3r1）相比，一种异常类型少一个144 bp外显子（PTC3r2）（3例）；在第二种非典型形式（PTC3r3）中，ELE1部分比PTC3r1短18 bp。与致癌性RET由10号染色体的臂间倒位产生的观察结果一致，我们在这些肿瘤中不仅发现了ELE/RET，还发现了RET/ELE转录本。在基因组DNA水平对断点区域进行测序揭示了可能与DNA双链断裂后异常重组相关的DNA修饰。ELE/RET重排及其各种亚型的高发生率似乎是切尔诺贝利反应堆事故后儿童辐射诱导甲状腺癌的典型特征。
