间质和1号大染色体缺失发生于局限性和播散性神经母细胞瘤中，并预示不良预后。

Interstitial and large chromosome 1p deletion occurs in localized and disseminated neuroblastomas and predicts an unfavourable outcome.

作者信息

Iolascon A, Lo Cunsolo C, Giordani L, Cusano R, Mazzocco K, Boumgartner M, Ghisellini P, Faienza M F, Boni L, De Bernardi B, Conte M, Romeo G, Tonini G P

机构信息

Department of Biomedicine of Evolutive Age, University of Bari, Genova, Italy.

出版信息

Cancer Lett. 1998 Aug 14;130(1-2):83-92. doi: 10.1016/s0304-3835(98)00122-0.

DOI:10.1016/s0304-3835(98)00122-0

PMID:9751260

Abstract

We studied chromosome 1p loss of heterozygosity (1p-LOH) in 53 neuroblastomas (NBs) using 15 (CA)n repeat loci, which covered a region of 90 cM. We also assessed chromosome 1p36 deletion by fluorescence in situ hybridization (FISH) on interphase nuclei. 1p-LOH was found in 19 (36%, 95% confidence interval (CI) 23-50%) NBs. We detected interstitial and large deletion in both localized and disseminated tumours and in one tumour of a patient at stage 4S. Allelic loss was frequently observed in 1p36 and 1p32 regions. In patients older than 1 year of age (53 versus 13%, P < 0.002) we detected significant chromosome 1p deletion and it was associated with MYCN amplification (P = 0.001). Overall survival (OS) analysis showed that 1p-LOH is predictive of a poor outcome (odds ratio 16.5, 95% CI 5.4-50.9%); therefore, 1p-LOH should be regarded as an additional tumour progression marker in neuroblastoma.

摘要

我们使用15个（CA）n重复位点对53例神经母细胞瘤（NBs）进行了1号染色体杂合性缺失（1p-LOH）研究，这些位点覆盖了90 cM的区域。我们还通过间期核荧光原位杂交（FISH）评估了1号染色体1p36缺失情况。在19例（36%，95%置信区间（CI）23 - 50%）NBs中发现了1p-LOH。我们在局限性和播散性肿瘤以及1例4S期患者的肿瘤中均检测到了间质和大片段缺失。在1p36和1p32区域经常观察到等位基因缺失。在1岁以上的患者中（53%对13%，P < 0.002），我们检测到显著的1号染色体1p缺失，且其与MYCN扩增相关（P = 0.001）。总生存（OS）分析表明，1p-LOH预示预后不良（优势比16.5，95% CI 5.4 - 50.9%）；因此，1p-LOH应被视为神经母细胞瘤中一个额外的肿瘤进展标志物。