Pierotti M A, Santoro M, Jenkins R B, Sozzi G, Bongarzone I, Grieco M, Monzini N, Miozzo M, Herrmann M A, Fusco A
Divisione di Oncologia Sperimentale A, Istituto Nazionale Tumori, Milan, Italy.
Proc Natl Acad Sci U S A. 1992 Mar 1;89(5):1616-20. doi: 10.1073/pnas.89.5.1616.
RET/PTC is a transforming sequence created by the fusion of the tyrosine kinase domain of the RET protooncogene with the 5' end of the locus D10S170 designated by probe H4 and is frequently found activated in human papillary thyroid carcinomas. RET and D10S170 have been mapped to contiguous regions of the long arm of chromosome 10: q11.2 and q21, respectively. To identify the mechanism leading to the generation of the oncogenic sequence RET/PTC, a combined cytogenetic and molecular analysis of several cases of papillary thyroid carcinomas was done. In four cases the results indicated that these tumors had RET/PTC activation and a paracentric inversion of the long arm of chromosome 10, inv(10)(q11.2q21), with breakpoints coincident with the regions where RET and D10S170 are located. Therefore, a chromosome 10q inversion provides the structural basis for the D10S170-RET fusion that forms the hybrid transforming sequence RET/PTC.
RET/PTC是一种由RET原癌基因的酪氨酸激酶结构域与探针H4指定的基因座D10S170的5'端融合而产生的转化序列，在人类甲状腺乳头状癌中经常被发现激活。RET和D10S170分别定位于10号染色体长臂的相邻区域：q11.2和q21。为了确定导致致癌序列RET/PTC产生的机制，对几例甲状腺乳头状癌进行了细胞遗传学和分子联合分析。在四例病例中，结果表明这些肿瘤具有RET/PTC激活以及10号染色体长臂的臂间倒位，inv(10)(q11.2q21)，断点与RET和D10S170所在区域一致。因此，10号染色体q臂倒位为形成杂交转化序列RET/PTC的D10S170-RET融合提供了结构基础。
