目的：观察国内儿童散发性神经母细胞瘤( neuroblastoma, NB)中间变性淋巴瘤激酶( anaplastic lymphoma kinase, ALK)的表达,探讨其在NB发生、发展中的作用。方法应用荧光原位杂交法( fluorescence in situ hybridization, FISH)检测56例ALK蛋白异常表达的NB中ALK基因的表达。结果 FISH检测显示56例NB中ALK基因46例为正常,10例为异常,其中9例为ALK增多(16%),1例为扩增(1.8%)。结论 ALK基因是NB一个主要的易感基因,国内儿童ALK基因异常的发生率与国外文献报道相近,其有可能成为治疗NB的主要靶点之一。%Purpose To investigate the genetic changes of ALK gene in sporadic neuroblastoma in China, and to explore its role in neuroblastoma. Methods Total 56 cases of NB with overexpressed ALK protein were studied by fluorescence in situ hybridization ( FISH) , using interphase Vysis LSI ALK dual-color and break apart rearrangement probes. Literature under the subject was searched through PubMed. Results Of the 56 cases, ALK gain was found in 9 (16%) cases, ALK amplification was found in 1 (1. 8%) case only. No alterations of ALK were detected in the remaining 46 cases. Conclusion As a major predisposition gene as well as a poten-tial therapeutic target for neuroblastoma, the frequency of aberrant copy numbers of ALK gene in Chinese NB patients is closely similar with previously published results.
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