Neuroblastoma tumour cells are characterised by a wide diversity of genetic mutations. Some common genetic features include:

Amplification of the MYCN gene is one of the most established genetic prognostic factors. Amplified tumours are mostly (though not exclusively) found in children aged over 1 year at diagnosis with advanced stage disease. Other genes, such as DDX1 are often co-amplified with MYCN.

Deletion of material from the chromosome 1p36 region is also associated with adverse prognosis. This is thought to be a candidate region for a suppressor gene which has yet to be identified.

Gain of 17q material is the most frequent genetic abnormality in neuroblastoma. Unbalanced 17q gain is an adverse prognostic factor and is strongly associated with adverse clinical features, 1p deletion, and MYCN amplification.

Expression of TRKA in contrast is a favourable genetic feature. This is associated with low stage and age under 1 yrear at diagnosis. TRKA is frequently supressed in MYCN amplified Tumours. Other members of the TRK neurotrophine receptor gene family, TRKB and TRKC, are also implicated in neuroblastoma.

—      Brodeur GM, et al. Biology and genetics of human neuroblastomas. [Review] J Pediatr Hematol Oncol 1997; 19(2):93-101    Related articles (PubMed)

—      Benard J Genetic alterations associated with metastatic dissemination and chemoresistance in neuroblastoma Eur J Cancer 1995; 31A(4):560-4    Related articles (PubMed)

—      Takita J, et al. Loss of heterozygosity in neuroblastomas–an overview. [Review] Eur J Cancer 1997;33(12):1971-3    Related articles (PubMed)

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