Portal de investigación
Imbalance between genomic gain and loss identifies high-risk neuroblastoma patients with worse outcomes.
Fecha de publicación:
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Autores de INCLIVA
Participantes ajenos a INCLIVA
- Berbegall, Ana Pilar
- Castel, Victoria
Grupos y Plataformas de I+D+i
Abstract
Survival in high-risk neuroblastoma (HR-NB) patients remains poor despite multimodal treatment. We aimed to identify HR-NB patients with worse outcomes by analyzing the genomic instability derived from segmental chromosomal aberrations. We calculated 3 genomic instability indexes for primary tumor SNP array profiles from 127 HR-NB patients: (1) Copy number aberration burden (%gainslength+%losseslength), (2) copy number load (CNL) (%gainslength-%losseslength) and (3) net genomic load (NGL) (%gainsamount-%lossesamount). Tumors were classified according to positive or negative CNL and NGL genomic subtypes. The impact of the genomic instability indexes on overall survival (OS) was assessed with Cox regression. We identified 38% of HR-NB patients with poor 5-year OS. A negative CNL genomic background was related to poor prognosis in patients =18 months showing tumors with homogeneous MYCN amplification (9.5% survival probability, P < 0.05) and patients with non-MYCN amplified NB (18.8% survival probability related to >2.4% CNL, P < 0.01). A positive CNL genomic background was associated with worse outcome in patients with heterogeneous MYCN amplification (22.5% survival probability, P < 0.05). We conclude that characterizing a tumor genomic background according to predominance of genome gained or lost contributes toward improved outcome prediction and brings greater insight into the tumor biology of HR-NB patients.
© 2020 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/)
Datos de la publicación
- ISSN/ISSNe:
- 1522-8002, 1476-5586
- Tipo:
- Article
- Páginas:
- 12-20
- PubMed:
- 33190090
NEOPLASIA ELSEVIER SCIENCE INC
Citas Recibidas en Web of Science: 3
Documentos
Filiaciones
Keywords
- Copy number load; Copy number aberration burden; Net genomic load; Genomic imbalance; Segmental chromosomal aberrations
Proyectos y Estudios Clínicos
INCORPORACIÓN DE NUEVAS ÁREAS TEMÁTICAS Y NUEVOS GRUPOS AL CONSORCIO CIBER
Investigador Principal: ROSA NOGUERA SALVA
CB16/12/00484 . INSTITUTO SALUD CARLOS III
Identificación y validación de nuevas terapias, modelos preclínicos y marcadores de respuesta terapéutica en neuroblastoma. (PI17/01558).
Investigador Principal: ROSA NOGUERA SALVA
PI17/01558 . INSTITUTO SALUD CARLOS III . 2018
Cita
Fernandez B,Berbegall AP,Martin S,Castel V,Navarro S,Noguera R. Imbalance between genomic gain and loss identifies high-risk neuroblastoma patients with worse outcomes. Neoplasia. 2020. 23. (1):p. 12-20. IF:5,715. (2).
Imbalance between genomic gain and loss identifies high-risk neuroblastoma patients with worse outcomes. Fernandez B, Berbegall AP, Martin S, Castel V, Navarro S, Noguera R. NEOPLASIA. 2020 noviembre 12. 23 (1):12-20. DOI:10.1016/j.neo.2020.11.001. PMID:33190090.
