视网膜母细胞瘤中的非随机染色体变化。

Pogosianz H E, Kuznetsova L E

Arch Geschwulstforsch. 1986;56(2):135-43.

The analysis of the karyotype in 76 retinoblastomas (24 our cases and 52 described in the literature) has revealed nonrandom changes of Iq, 6p, 13, 16 and the sex chromosomes. Complete or partial trisomy Iq was observed in 44 out of 76 tumours. Tetra-or trisomy 6p was found in 35 and 6 cases respectively. Chromosome 13 monosomy or its long arm deletion was described in 11 tumours. Monosomy 16 and loss of the X or Y--in 18 and 12 cases. The specific feature of retinoblastoma karyotype is presence (along with two normal homologues of the pair 6) of the marker chromosome i (6p). Possible causes of unexpectedly rare abnormalities of chromosome 13 in retinoblastoma cells were discussed in the light of well known data on predisposing role of constitutional deletion 13q14, and recent molecular genetic studies showing the significance of recessive tumour genes in carcinogenesis. The cytological signs of gene amplification (HSRs, DMs) were revealed in few retinoblastomas. However, the recent data on N-myc gene amplification and its elevated expression in several retinoblastomas indicate that amplification of the oncogene(s) might be involved in the genesis of this tumour. Further studies are needed to understand the correlative role of specific chromosome rearrangements, gene(s) amplification and action of recessive rb gene, located at 13q14 in initiation and progression of retinoblastoma.

对76例视网膜母细胞瘤（24例为我们的病例，52例来自文献报道）的核型分析显示，1号染色体长臂（1q）、6号染色体短臂（6p）、13号染色体、16号染色体及性染色体存在非随机改变。76例肿瘤中，44例观察到1q完全或部分三体。分别在35例和6例中发现6p四体或三体。11例肿瘤描述有13号染色体单体或其长臂缺失。18例和12例分别有16号染色体单体以及X或Y染色体丢失。视网膜母细胞瘤核型的特异特征是标记染色体i（6p）的存在（与6号染色体的两条正常同源染色体并存）。根据13q14结构缺失的易患作用的已知数据以及近期分子遗传学研究显示隐性肿瘤基因在致癌过程中的重要性，讨论了视网膜母细胞瘤细胞中13号染色体异常罕见的可能原因。在少数视网膜母细胞瘤中发现了基因扩增的细胞学征象（双微体、均染区）。然而，近期关于N - myc基因扩增及其在数例视网膜母细胞瘤中表达升高的数据表明，癌基因的扩增可能参与了该肿瘤的发生。需要进一步研究以了解特定染色体重排、基因扩增以及位于13q14的隐性rb基因在视网膜母细胞瘤发生和发展中的相互关系。