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肝母细胞瘤中首例反复出现的染色体易位:der(4)t(1;4)(q12;q34)

The first recurring chromosome translocation in hepatoblastoma: der(4)t(1;4)(q12;q34).

作者信息

Schneider N R, Cooley L D, Finegold M J, Douglass E C, Tomlinson G E

机构信息

Department of Pathology, UT Southwestern Medical Center, Dallas, TX 75235-9072, USA.

出版信息

Genes Chromosomes Cancer. 1997 Aug;19(4):291-4. doi: 10.1002/(sici)1098-2264(199708)19:4<291::aid-gcc13>3.0.co;2-j.

Abstract

We report four cases of hepatoblastoma with a derivative chromosome 4 from an unbalanced translocation between the long arms of chromosomes 1 and 4, an aberration reported only rarely in isolated cases of other types of neoplasms. The abnormality in three hepatoblastomas was der(4)t(1;4)(q12;q34), whereas the fourth case appeared to have a der(4)t(q25;q32). All had hyperdiploid tumor karyotypes; however, in the case with t(q25;q32), the der(4) was the only abnormality in the stemline. We speculate that the oncogenetic event in our cases may be the loss of a gene on distal 4q or their alteration by juxtaposition to 1q12 heterochromatin.

摘要

我们报告了4例肝母细胞瘤病例,其4号染色体来源于1号和4号染色体长臂之间的不平衡易位,这种畸变仅在其他类型肿瘤的个别病例中罕见报道。3例肝母细胞瘤的异常为der(4)t(1;4)(q12;q34),而第4例似乎为der(4)t(q25;q32)。所有病例的肿瘤核型均为超二倍体;然而,在t(q25;q32)的病例中,der(4)是干系中唯一的异常。我们推测,我们病例中的致癌事件可能是4q远端一个基因的缺失,或因与1q12异染色质并列而发生改变。

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