Distribution of segmental chromosomal alterations in neuroblastoma
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RESEARCH ARTICLE
Distribution of segmental chromosomal alterations in neuroblastoma A. Juan Ribelles1 · P. Gargallo2 · C. Ferriol3 · V. Segura2 · Y. Yáñez2 · B. Juan3 · A. J. Cañada4 · J. Font de Mora2 · A. Cañete1 · V. Castel2 Received: 21 July 2020 / Accepted: 5 September 2020 © Federación de Sociedades Españolas de Oncología (FESEO) 2020
Abstract Background Neuroblastoma (NB) is a heterogeneous tumor with extremely diverse prognosis according to clinical and genetic factors such as specific 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 amplified (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 affected chromosomes identify prognostic factors in specific risk groups. SCA are associated with older age and MNA. We have identified a small subset of patients with better outcome that share whole-chromosome 19 numeric gain, suggesting its use as a prognostic biomarker in NB. Keywords Segmental chromosomal alterations · 11q deletion · Whole gain chromosome 19 · MYCN amplification · Molecular karyotyping
Introduction Neuroblastoma (NB) is a complex, heterogeneous tumor and the most common extracranial solid malignancy in childhood [1]. It originates in the sympathetic nervous system and is responsible for approximately 15% of childhood cancer Electronic supplementary material The online version of this article (https://doi.org/10.1007/s12094-020-02497-2) contains supplementary material, which is available to authorized users. * A. Juan Ribelles [email protected] 1
Pediatric Oncology and Hematology Unit, Hospital U i P La Fe, Av. Fernando Abril Martorell, 106, Valencia, Spain
2
Clinical and Translational Oncology Research Group, Instituto de Investigación La Fe, Valencia, Spain
3
Universitat de València, Valencia, Spain
4
Biostatistics Department, Instituto de Investigación La Fe, Valencia, Spain
deaths [2]. Clinical manifestations vary from aggressive growth despite intensive treatment to some cases of spontaneous regression. Age and stage are prognostic factors and particular genomic changes in the tumor correlate with its behavior and outcome. MYCN amplification (MNA) is associated with aggressive tumors and a poor prognosis in all the tumor stages. Segmental chromosomal imbalances and focal aberrations are
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