Valind Anders, Öra Ingrid, Mertens Fredrik, Gisselsson David
Division of Clinical Genetics, Lunds Universitet, Lund, Sweden.
BMJ Case Rep. 2018 Sep 8;2018:bcr-2018-225568. doi: 10.1136/bcr-2018-225568.
Neuroblastoma is one of the most common paediatric malignancies. Detection of somatic genetic alterations in this tumour is instrumental for its risk stratification and treatment. On the other hand, an absence of detected chromosomal imbalances in neuroblastoma biopsies is difficult to interpret because it is unclear whether this situation truly reflects the tumour genome or if it is due to suboptimal sampling. We here present a neuroblastoma in the left adrenal of a newborn. The tumour was subjected to single-nucleotide polymorphism array analysis of five tumour regions with >80% tumour cells in histological mirror sections. This revealed no aberrations compared with a normal reference sample from the patient. Whole exome sequencing identified two single-nucleotide variants present in most tumour regions, corroborating that the tumour resulted from monoclonal expansion. Our data provide proof-of-principle that rare cases of neuroblastoma can have a normal whole genome copy number and allelic profile.
神经母细胞瘤是最常见的儿科恶性肿瘤之一。检测该肿瘤中的体细胞基因改变对其风险分层和治疗至关重要。另一方面，神经母细胞瘤活检中未检测到染色体失衡的情况难以解释，因为尚不清楚这种情况是真的反映了肿瘤基因组，还是由于取样不理想所致。我们在此报告一例新生儿左肾上腺神经母细胞瘤。对该肿瘤的五个肿瘤区域进行了单核苷酸多态性阵列分析，这些区域在组织学镜像切片中的肿瘤细胞含量>80%。与患者的正常参考样本相比，未发现畸变。全外显子组测序在大多数肿瘤区域发现了两个单核苷酸变异，证实该肿瘤是由单克隆扩增导致的。我们的数据提供了原理证明，即罕见的神经母细胞瘤病例可能具有正常的全基因组拷贝数和等位基因谱。
