Resumen de Distribution of segmental chromosomal alterations in neuroblastoma
Antonio Juan Ribelles, Pablo Gargallo, C. Ferriol, V. Segura, Y. Yáñez, B. Juan, A.J. Cañada, J. Font de Mora, A. Cañete, Victoria Castel Sánchez
Background Neuroblastoma (NB) is a heterogeneous tumor with extremely diverse prognosis according to clinical and genetic factors such as specifc combinations of chromosomal imbalances.
Methods Molecular karyotyping data from a national neuroblastic tumor database of 155 NB samples were analyzed and related to clinical data.
Results Segmental chromosomal alterations (SCA) were detected in 102 NB, whereas 45 only displayed numerical alterations. Incidence of SCA was higher in stage M (92%) and MYCN amplifed (MNA) NB (96%). Presence of SCA was associated with older age, especially 1q gain and 3p deletion. 96% of the deaths were observed in the SCA group and 85% of the relapsed NB contained SCA. The alteration most commonly associated with a higher number of other segmental rearrangements was 11q deletion, followed by 4p deletion. Whole-chromosome 19 gain was associated with lower stages, absence of SCA and better outcome.
Conclusions SCA are not randomly distributed and are concentrated on recurrent chromosomes. The most frequently afected chromosomes identify prognostic factors in specifc risk groups. SCA are associated with older age and MNA. We have identifed a small subset of patients with better outcome that share whole-chromosome 19 numeric gain, suggesting its use as a prognostic biomarker in NB.
