A Juan Ribelles1, P Gargallo2, C Ferriol3, V Segura2, Y Yáñez2, B Juan3, A J Cañada4, J Font de Mora2, A Cañete5, V Castel2. 1. Pediatric Oncology and Hematology Unit, Hospital U i P La Fe, Av. Fernando Abril Martorell, 106, Valencia, Spain. juan_antrib@gva.es. 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. 5. Pediatric Oncology and Hematology Unit, Hospital U i P La Fe, Av. Fernando Abril Martorell, 106, Valencia, Spain.
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.
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.
Authors: Karin Schmelz; Joern Toedling; Matt Huska; Maja C Cwikla; Louisa-Marie Kruetzfeldt; Jutta Proba; Peter F Ambros; Inge M Ambros; Sengül Boral; Marco Lodrini; Celine Y Chen; Martin Burkert; Dennis Guergen; Annabell Szymansky; Kathy Astrahantseff; Annette Kuenkele; Kerstin Haase; Matthias Fischer; Hedwig E Deubzer; Falk Hertwig; Patrick Hundsdoerfer; Anton G Henssen; Roland F Schwarz; Johannes H Schulte; Angelika Eggert Journal: Nat Commun Date: 2021-11-23 Impact factor: 14.919