细胞核阵列荧光原位杂交技术检测石蜡包埋间变性大细胞淋巴瘤组织的ALK基因转位及其意义

Nuclear microarray combined with fluorescence in situ hybridization for detecting ALK gene translocation in paraffin-embedded anaplastic large cell lymphoma and its significance

目的比较细胞核阵列荧光原位杂交技术(FISH)和免疫组织化学在检测间变性大细胞淋巴瘤(ALCL)中间变性淋巴瘤激酶基因转位及其融合蛋白中的作用。方法联合应用细胞核阵列技术和双色FISH及免疫组织化学检测17例石蜡包埋ALCL病例中间变性淋巴瘤激酶基因转位及其融合蛋白。结果成功提取细胞核制成阵列去掉了胞浆对FISH的不良影响并提供了高通量的操作平台;总共17例标本中8例间变性淋巴瘤激酶免疫组织化学阳性的标本中,胞核胞浆均阳性4例,仅胞浆阳性4例;细胞核阵列FISH阳性结果6例,除了符合4例免疫组化胞浆胞核阳性的结果之外,还有2例免疫组化仅为胞浆阳性的标本FISH结果为阳性,剩余2例免疫组化仅为胞浆阳性的标本FISH结果为阴性。结论细胞核阵列FISH消除了细胞浆对FISH的不良影响,并提供高通量操作平台,使FISH成为临床检测的常用方法有了进一步的可能;FISH较免疫组化是更为特异的一个诊断方法。

Objective To compare the efficacy of nuclear microarray combined with fluorescence in situ hybridization （FISH） and immunohistochemistry in detecting ALK gene translocation and ALK fusion protein in anaplastic large cell lymphoma （ALCL）. Methods ALK gene translocation and ALK fusion protein in 17 paraffin-embedded ALCL specimens were detected using nuclear microarray combined with FISH and immunohistochemical straining, respectively. Results The expression of ALK fusion protein was detected immunohistochemically with ALK antibody in 8 of the 17 specimens of systemic ALCL, including 4 with both nuclear and cytoplasmic positivity and 4 with only cytoplasmic positivity. Dual-color FISH identified 6 positive specimens, including the 4 specimens with both nuclear and cytoplasmic positivity as identified immunohistochemically, and 2 with immunohistochemical cytoplasmic positivity. FISH yielded negative results for the 2 specimens with immunohistochemical cytoplasmic positivity. Conclusion Nuclear microarray combined with FISH eliminated the cytoplasmic interference of the results of conventional FISH and provides a high-throughput platform for clinical detection with greater specificity than immunohistochemistry.