Patients with high-risk neuroblastoma (HR-NB) often initially respond to therapy, but afterward they become resistant and disease recurred. Unfortunately, it does not exist one or more specific chromosome defects associated with relapse or refractory NB. Recently, genomic evidence from primary tumors indicated that the distal region of chromosome 6q is loss in HR-NB patients with fatal outcome. We identified a minimal common region of loss of chromosome 6q27 spanning an area of 2.09 Mb by high-resolution DNA copy number data of a small cohort of HR-NB samples carrying 6q loss. This region of loss harbored five genes T, SFT2D1, RPS6KA2, FGFR1OP, and UNC93A. We found that low SFT2D1, RPS6KA2, and FGFR1OP gene expression predicted poor outcome in HR-NB patients using public R2 Platform. Further functional studies will be essential to confirm the presumed tumor suppressor gene(s) located within 6q27 region. These results suggest that SFT2D1, RPS6KA2, and FGFR1OP genes may be responsible for poor prognosis of HR-NB tumors with 6q27 loss, and their haploinsufficiency may be crucial in accelerating tumor progression.

中文翻译：

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确定与高危成神经细胞瘤患者生存不良相关的染色体6q27上的最小丢失区域。

高危神经母细胞瘤（HR-NB）患者通常最初对治疗有反应，但后来变得耐药，疾病复发。不幸的是，它不存在与复发或难治性NB相关的一种或多种特定染色体缺陷。最近，来自原发性肿瘤的基因组证据表明，在具有致命结局的HR-NB患者中，染色体6q的远端区域丢失。我们通过一小群携带6q丢失的HR-NB样本的高分辨率DNA拷贝数数据，确定了最小的6q27染色体丢失的普通区域，该区域跨越2.09 Mb的区域。该丢失区域包含五个基因T，SFT2D1，RPS6KA2，FGFR1OP和UNC93A。我们发现低SFT2D1，RPS6KA2和FGFR1OP基因表达预测使用公共R2平台的HR-NB患者的预后不良。进一步的功能研究对于确定位于6q27区域内的假定抑癌基因至关重要。这些结果表明，SFT2D1，RPS6KA2和FGFR1OP基因可能是导致6q27缺失的HR-NB肿瘤预后不良的原因，它们的单倍剂量不足可能对加速肿瘤进展至关重要。