Tumour karyotype discriminates between good and bad prognostic outcome in neuroblastoma.
Tumour karyotype discriminates between good and bad prognostic outcome in neuroblastoma.
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肿瘤核型区分神经母细胞瘤的好和坏预后结果。
DOI：
10.1038/bjc.1988.24
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发表时间：
1988-01
影响因子：
8.8
通讯作者：
Lampert, F
中科院分区：
文献类型：
--
作者：
Christiansen, H;Lampert, F
对28例不同分期的神经母细胞瘤患者，采用直接染色体制片法或短期细胞培养法对原发灶和(或)转移瘤进行核型测定。此外，对10例患者进行了原癌基因N-myc的DNA分析以作比较。18例转移性疾病(IV期)患者中15例(83%)和3例III期患者的肿瘤核型中发现1号染色体短臂异常(缺失、易位、衍生)，断裂频率最高的是1p32(除其他染色体罕见的异常)，而I、II、IV-S期的7例患者均未见异常。7例预后良好的存活患者均为超倍体肿瘤核型，主要在三倍体范围内。18例IV期患者中11例(61%)和3例III期患者中1例还含有双分钟(DM)和(或)均一染色区域(HSR)。在6例IV期患者中有2例(33%)检测到N-myc扩增(30~60拷贝)，在2例III期患者中检测到1例N-myc扩增，并与DM/HSRs的存在相关。生命表分析显示，在缺乏1p异常的患者中，生存概率为90%，而在肿瘤细胞中存在1p染色体异常的患者中，这一比例不到10%。我们得出结论，肿瘤核型，特别是1号染色体短臂的结构，是决定神经母细胞瘤儿童不同结局的最重要因素。
In 28 patients with neuroblastoma of different stages the karyotype was determined in the primary tumour and/or in the metastases by direct chromosome preparation or short term cell culture. In addition, DNA analysis for the proto-oncogene N-myc was performed for comparison in 10 cases. Abnormalities (deletions, translocations, derivations) of the short arm of chromosome 1 with the most frequent breakpoint at 1p32 (besides rarer aberrations in other chromosomes) were found in the tumour karyotype of 15 of 18 (83%) patients with metastatic disease (stage IV) and in 2 of 3 patients with stage III, but in none of the 7 patients with stages I, II, IV-S who are all alive with no evidence of disease. These 7 surviving patients with good prognosis had a hyperploid tumour karyotype, mainly in the triploid range. Eleven of the 18 (61%) patients with stage IV and 1 of 3 patients with stage III also contained double minutes (DMs) and/or homogeneously staining regions (HSRs) in their tumour karyotypes. N-myc amplification (30 to 60 copies) in the tumour DNA was detected in 2 of 6 (33%) examined cases with stage IV, in 1 out of 2 examined cases with stage III, and correlated with the presence of DMs/HSRs. Life table analysis showed a 90% probability of surviving in patients lacking the 1p abnormality as compared to less than 10% in patients with an aberrant 1p chromosome in the tumour cells. We conclude that tumour karyotype, in particular the structure of the short arm of chromosome 1, is the most important factor in determining the different outcome in children with neuroblastoma.