成人正常核型前体B细胞急性淋巴细胞白血病中9q34的复发性缺失
Recurrent deletion of 9q34 in adult normal karyotype precursor B-cell acute lymphoblastic leukemia.
作者信息
Nowak Norma J, Sait Sheila N J, Zeidan Amer, Deeb George, Gaile Dan, Liu Song, Ford LaurieAnn, Wallace Paul K, Wang Eunice S, Wetzler Meir
机构信息
Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, NY 14263, USA.
出版信息
Cancer Genet Cytogenet. 2010 May;199(1):15-20. doi: 10.1016/j.cancergencyto.2010.01.014.
The prognosis of adult normal karyotype (NK) precursor B-cell acute lymphoblastic leukemia (B-ALL) has not improved over the last decade, mainly because separation into distinct molecular subsets has been lacking and no targeted treatments are available. We screened the genome of blasts from 10 adult NK B-ALL patients for novel genomic alterations by array comparative genomic hybridization and verified our results with fluorescent in situ hybridization and gene expression profile with the same probes. The results demonstrate cryptic deletions of 9q34 involving SET, PKN3, NUP188, ABL1, and NUP214 in three of the samples. The smallest deletion resulted in the likely juxtaposition of the SET and NUP214 genes. This aberration has not been described before in adult NK B-ALL. Larger number of samples is warranted to determine the prognostic significance of this cryptic deletion.
在过去十年中，成人正常核型（NK）前体B细胞急性淋巴细胞白血病（B-ALL）的预后并未得到改善，主要原因是缺乏对其进行明确分子亚群的划分，且没有可用的靶向治疗方法。我们通过阵列比较基因组杂交技术，对10例成人NK B-ALL患者的原始细胞基因组进行筛选，以寻找新的基因组改变，并使用相同探针的荧光原位杂交和基因表达谱技术对结果进行验证。结果显示，在三个样本中存在9q34的隐匿性缺失，涉及SET、PKN3、NUP188、ABL1和NUP214基因。最小的缺失导致SET和NUP214基因可能并列。这种畸变在成人NK B-ALL中此前尚未有过描述。需要更多样本以确定这种隐匿性缺失的预后意义。
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