Abstract
BACKGROUND AND OBJECTIVE: Neuroblastoma (NBL) is the most common extracranial solid cancer of childhood and is characterized by a remarkable biological heterogeneity, resulting in favorable or unfavorable outcomes. There are many prognostic factors like age, stage, histopathology, plasma and urinary markers and the molecular characteristics of tumor cells. Amplification of the MYCN gene, observed in 20-25% of NBL, is established as the most powerful prognostic factor, and so as the first tumor genetic marker which has been used for risk stratification in all neuroblastoma clinical trials. This article aims to investigate, in a series of 41 NBL patients ascertained in 2014, the relationship between amplification of MYCN and some other prognostic factors: patient’s age, histopathology, VMA/HVA ratio and LDH level. METHODS: Amplification of MYCN was identified by FISH. The MYCN status was compared with the other clinic-biological factors. RESULTS: Amplification of MYCN is found on 9/41 NBL patient. The proportion of amplified MYCN according to the age group is 11% (<12 months patients), 22% (12-18 months) and 67% (>18 months). The favorable and unfavorable histology cases show a different frequency of MYCN amplification, 25% and 75%, respectively. All patients with amplified MYCN have a VMA/HVA ratio below 1, and 63% of them have LDH level above 2,000 IU/mL (both associated with worse prognosis). CONCLUSIONS: The amplification of MYCN is strongly associated with age at diagnosis >18 months, unfavourable histology, VMA/HVA ratio below 1 and LDH level above 2,000 IU/mL. The VMA/HVA ratio and LDH level could be valuable markers for diagnosis and monitoring of disease status, however, the MYCN status determined by FISH is one of the most important tools for treatment stratification.