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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.

DOI:10.1002/(sici)1098-2264(199708)19:4<291::aid-gcc13>3.0.co;2-j
PMID:9258666
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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Gene expression profiling reveals signatures characterizing histologic subtypes of hepatoblastoma and global deregulation in cell growth and survival pathways.基因表达谱分析揭示了表征肝母细胞瘤组织学亚型的特征以及细胞生长和存活途径中的整体失调。
Hum Pathol. 2009 Jun;40(6):843-53. doi: 10.1016/j.humpath.2008.10.022. Epub 2009 Feb 5.
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Frequent increase of DNA copy number in the 2q24 chromosomal region and its association with a poor clinical outcome in hepatoblastoma: cytogenetic and comparative genomic hybridization analysis.
肝母细胞瘤中2q24染色体区域DNA拷贝数的频繁增加及其与不良临床结局的关联:细胞遗传学和比较基因组杂交分析
Jpn J Cancer Res. 2001 Aug;92(8):854-62. doi: 10.1111/j.1349-7006.2001.tb01172.x.
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Comparative genomic hybridization reveals population-based genetic alterations in hepatoblastomas.比较基因组杂交揭示了肝母细胞瘤基于群体的基因改变。
Br J Cancer. 2000 Oct;83(8):1020-5. doi: 10.1054/bjoc.2000.1390.
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Characterization of genomic alterations in hepatoblastomas. A role for gains on chromosomes 8q and 20 as predictors of poor outcome.肝母细胞瘤基因组改变的特征。8号染色体长臂和20号染色体上的增益作为预后不良预测指标的作用。
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