Neuroblastoma in two siblings supports the role of 1p36 deletion in tumor development

作     者：Lo Cunsolo, C Iolascon, A Cavazzana, A Cusano, R Strigini, P Mazzocco, K Giordani, L Massimo, L De Bernardi, B Conte, M Tonini, GP 

作者机构：Adv Biotechnol Ctr Unit Solid Tumor Biol I-16132 Genoa Italy Natl Inst Canc Res Lab Genet Populat Genoa Italy Natl Inst Canc Res Sess Genet Epidemiol Genoa Italy G Gaslini Childrens Hosp Genet Mol Lab Genoa Italy G Gaslini Childrens Hosp Lab Oncol Genoa Italy G Gaslini Childrens Hosp Dept Hematol Oncol Genoa Italy Univ Bari Dept Biomed Evolut Age Bari Italy Osped S Camillo Forlanini Rome Italy 

出 版 物：《CANCER GENETICS AND CYTOGENETICS》 (癌遗传学与细胞遗传学)

年 卷 期：1999年第109卷第2期

页      面：126-130页

核心收录：

学科分类：0710[理学-生物学] 1002[医学-临床医学] 07[理学] 09[农学] 071007[理学-遗传学] 100214[医学-肿瘤学] 0901[农学-作物学] 090102[农学-作物遗传育种] 10[医学] 

基　　金：CNR-ACRO, (94.01259/PF39) Associazione Italiana per la Lotta al Neuroblastoma Associazione Italiana per la Ricerca sul Cancro, AIRC 

主　　题：腹部肿瘤/药物疗法 腹部肿瘤/遗传学 腹部肿瘤/病理学 染色体 人 1对 基因 myc 疾病遗传易感性 原位杂交 荧光 杂合子丢失 微卫星重复 肿瘤分期 神经母细胞瘤/药物疗法 神经母细胞瘤/遗传学 神经母细胞瘤/病理学 系谱 儿童 学龄前 女(雌)性 人类 男(雄)性 妊娠 

摘      要：Familial neuroblastoma occurs rarely. We studied a family with three children;one of them has a disseminated (stage 4) and another has a localized (stage 2) neuroblastoma. We observed subtelomeric locus D1Z2 (1p36) deletion in both tumors by using double-color fluorescence in situ hybridization. The MYNC gene rr as found in single copy in both tumors. Loss of heterozygosity (LOH) and restriction fragment length polymorphism analyses were performed by using DNA from frozen tumor cells and from microdissected tumor areas excised from paraffin-embedded sections. We detected somatic LOH at locus D1S468 (1p36) in a tumor-cell population with a trisomy 1 of the stage-2 patient. Neuroblastoma cells of the stage-4 patient rr ere diploid and showed allelic loss at the following loci: D1S172, D1S80, D1S94, D1S243, D1S468, D1S214, D1S241, and D1S164. Haplotype study showed that the siblings inherited the same paternal 1p36--pter chromosome region by homologous recombination and that, in the two tumors, arm Ip of different chromosomes of maternal origin was damaged. Our results suggest that the siblings inherited the predisposition to neuroblastoma associated with paternal 1p36 region and that tumors developed as a consequence of somatic loss of the maternal Ip36 allele. (C) Elsevier Science Inc., 1999. All rights reserved.