Department of Paediatric Oncology, Great North Children's Hospital, Royal Victoria Infirmary, Queen Victoria Road, Newcastle upon Tyne NE1 4LP, UK.
Department of Paediatric Oncology, Great North Children's Hospital, Royal Victoria Infirmary, Queen Victoria Road, Newcastle upon Tyne NE1 4LP, UK; Newcastle Cancer Centre at the Northern Institute of Cancer Research, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Semin Fetal Neonatal Med. 2012 Aug;17(4):207-215. doi: 10.1016/j.siny.2012.05.002. Epub 2012 Jun 4.
Neuroblastoma, an embryonal tumour arising from the sympathetic nervous system, is the most common neonatal malignancy accounting for >20% of neonatal cancers. It may present as an antenatal adrenal mass or more commonly with localised or metastatic (4s/Ms) disease, which is usually low risk with a very good clinical outcome. Around 20% of neonatal neuroblastoma presents with spinal cord compression requiring prompt diagnosis and treatment with steroids and chemotherapy to relieve the cord compression. Patients with stage Ms disease without life- or organ-threatening symptoms or adverse genetic features (MYCN amplification or segmental chromosomal abnormalities) can be safely observed for spontaneous regression which may also occur with other localised neonatal neuroblastomas. Universal mass screening for neuroblastoma is not indicated but targeted screening of infants at risk of hereditary neuroblastoma with germline ALK or PHOX2B mutations is appropriate. Future studies will be aimed at observing more patients without adverse genetics or life-threatening features.
神经母细胞瘤是一种起源于交感神经系统的胚胎性肿瘤，是最常见的新生儿恶性肿瘤，占新生儿癌症的>20%。它可以表现为产前肾上腺肿块，或更常见的局限性或转移性（4s/Ms）疾病，通常风险较低，临床预后非常好。约 20%的新生儿神经母细胞瘤表现为脊髓压迫，需要迅速诊断和治疗，用类固醇和化疗来缓解脊髓压迫。对于没有危及生命或器官的症状或不良遗传特征（MYCN 扩增或部分染色体异常）的 Ms 期疾病患者，可以安全地观察，肿瘤可能会自发消退，其他局限性新生儿神经母细胞瘤也可能会自发消退。不建议对神经母细胞瘤进行普遍的群体筛查，但对于携带遗传型 ALK 或 PHOX2B 突变的有遗传性神经母细胞瘤风险的婴儿进行有针对性的筛查是合适的。未来的研究将着眼于观察更多没有不良遗传或危及生命特征的患者。
