Department of Cytogenetics, KK Women's and Children's Hospital, Singapore.
Singapore Med J. 2009 Nov;50(11):1090-4.
Neuroblastoma is the most common extracranial solid tumour in children, accounting for about 5.3 percent of all childhood cancers in Singapore. Several genetic abnormalities have been reported as prognostic markers, including amplification of the MYCN gene, deletion of the short arm of chromosome 1 (1p) and gain of the long arm of chromosome 17 (17q). However, the correlation between tumour histology and these genetic parameters remains to be established in our local population.
14 untreated primary neuroblastoma tumours, diagnosed consecutively in our hospital between 2003 and 2007, were included for this study. Tumour tissues were classified histologically as favourable or unfavourable, according to the modification of World Heath Organization Classification of Tumours, by associating the degree of differentiation and mitotic-karyorrhectic index of the neuroblastoma to the age of the patient. Fluorescence in situ hybridisation analysis for MYCN, 1p status and 17q status were subsequently performed on tumour touch imprints.
Five tumours with favourable histology were all negative for the three genetic parameters being investigated. The other nine tumours showing unfavourable histology exhibited one or more of the three genetic parameters. All MYCN amplified tumours either had additional 1p deletion and/or 17q gain.
Our limited data suggests that 1p deletion and 17q gain are reliable independent parameters correlating with an unfavourable histology and poor clinical outcome. The use of 1p deletion and 17q gain studies, in addition to MYCN amplification studies, should be considered routinely in predicting prognosis in neuroblastomas.
神经母细胞瘤是儿童中最常见的颅外实体瘤,占新加坡所有儿童癌症的 5.3%。已经报道了几种遗传异常作为预后标志物,包括 MYCN 基因扩增、染色体 1 短臂缺失(1p)和染色体 17 长臂获得(17q)。然而,在我们的本地人群中,肿瘤组织学与这些遗传参数之间的相关性仍有待确定。
本研究纳入了 2003 年至 2007 年间在我院连续诊断的 14 例未经治疗的原发性神经母细胞瘤肿瘤。根据肿瘤的分化程度和神经母细胞瘤的有丝分裂核碎裂指数,将肿瘤组织按世界卫生组织肿瘤分类的修订版进行组织学分类,分为有利或不利。随后对肿瘤触诊印迹进行 MYCN、1p 状态和 17q 状态的荧光原位杂交分析。
5 例具有有利组织学特征的肿瘤均为三种遗传参数均为阴性。另外 9 例表现出不利组织学特征的肿瘤则显示出一种或多种这三种遗传参数。所有 MYCN 扩增的肿瘤均存在额外的 1p 缺失和/或 17q 获得。
我们的有限数据表明,1p 缺失和 17q 获得是与不良组织学和不良临床结果相关的可靠独立参数。除了 MYCN 扩增研究外,还应考虑使用 1p 缺失和 17q 获得研究,以常规预测神经母细胞瘤的预后。