Imbalance between genomic gain and loss identifies high-risk neuroblastoma patients with worse outcomes.
Imbalance between genomic gain and loss identifies high-risk neuroblastoma patients with worse outcomes.
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DOI：
10.1016/j.neo.2020.11.001
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发表时间：
2021-01
期刊：
影响因子：
--
通讯作者：
Noguera R
中科院分区：
文献类型：
--
作者：
Fernández-Blanco B;Berbegall AP;Martin-Vañó S;Castel V;Navarro S;Noguera R
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.
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影响因子：
7.7
作者：
Hieronymus H;Murali R;Tin A;Yadav K;Abida W;Moller H;Berney D;Scher H;Carver B;Scardino P;Schultz N;Taylor B;Vickers A;Cuzick J;Sawyers CL
通讯作者：
Sawyers CL
DOI：
10.1126/science.aat6768
发表时间：
2018-12-07
期刊：
Science (New York, N.Y.)
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通讯作者：
De Preter K
DOI：
10.1073/pnas.0910684107
发表时间：
2010-03-02
影响因子：
11.1
作者：
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通讯作者：
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