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.
Overview of Neuroblastom Genetics
Neuroblastoma: Clinical and Epidemiological Resources