der(11)t(11;17): a distinct cytogenetic pathway of advanced stage neuroblastoma (NBL) – detected by spectral karyotyping (SKY)

Stark, Batia; Jeison, Marta; Glaser-Gabay, Leticia; Bar‐Am, Irit; Mardoukh, Jacques; Ash, Susan; Atias, Dina; Stein, Jerry; Zaizov, Rina; Yaniv, Isaac

doi:10.1016/s0304-3835(03)00083-1

Cited by 14 publications

(8 citation statements)

References 14 publications

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“…Each of the driver genes and segmental chromosome copy alterations shown in Fig. 1 have been identified as recurrent events in neuroblastoma [7][8][9]19,[24][25][26][27] , or in other cancer types (FGFR1 28 ). Of the 685 samples with WGS or WES, 136 (20%) lacked any of these recurrent alterations and had no whole-chromosome copy alterations.…”

Section: Resultsmentioning

confidence: 99%

Pan-neuroblastoma analysis reveals age- and signature-associated driver alterations

et al. 2020

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Neuroblastoma is a pediatric malignancy with heterogeneous clinical outcomes. To better understand neuroblastoma pathogenesis, here we analyze whole-genome, whole-exome and/or transcriptome data from 702 neuroblastoma samples. Forty percent of samples harbor at least one recurrent driver gene alteration and most aberrations, including MYCN, ATRX, and TERT alterations, differ in frequency by age. MYCN alterations occur at median 2.3 years of age, TERT at 3.8 years, and ATRX at 5.6 years. COSMIC mutational signature 18, previously associated with reactive oxygen species, is the most common cause of driver point mutations in neuroblastoma, including most ALK and Ras-activating variants. Signature 18 appears early and is continuous throughout disease evolution. Signature 18 is enriched in neuroblastomas with MYCN amplification, 17q gain, and increased expression of mitochondrial ribosome and electron transport-associated genes. Recurrent FGFR1 variants in six patients, and ALK N-terminal structural alterations in five samples, identify additional patients potentially amenable to precision therapy.

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Section: Resultsmentioning

confidence: 99%

Pan-neuroblastoma analysis reveals age- and signature-associated driver alterations

et al. 2020

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“…We have previously identified a group of tumors (10 of which were included in the present cohort) with 11q segmental loss characterized by der(11)t(11,17) on SKY. 58,59 Although associated with a poor prognosis, these patients had a distinct course of slower progression than MYCN-amplified tumors. Nonrandom t(11;17) has previously been reported to be one of the mechanisms underlying 11q loss and 17q gain by tumors.…”

Section: Discussionmentioning

confidence: 99%

2p24 Gain Region Harboring MYCN Gene Compared with MYCN Amplified and Nonamplified Neuroblastoma

Jeison

Ash

Halevy-Berko

et al. 2010

The American Journal of Pathology

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“…Loss of chromosome 3p occurs preferentially in 11q−tumors, and interestingly, children with 3p−/11q− tumors have a higher median age at diagnosis than do those with MNA tumors (6, 8, 9). Similar to MNA tumors, the 11q− tumors usually have gain of 17q, but as a consequence of an unbalanced t(11q;17q) which simultaneously results in loss of the 11q material (10, 11). At the molecular level, MNA and 11q− tumors are clearly different, being distinguishable by both mRNA (12, 13), and microRNA (miRNA) (14) genome-wide expression profiling.…”

Section: Introductionmentioning

confidence: 99%

Chromosomal and MicroRNA Expression Patterns Reveal Biologically Distinct Subgroups of 11q− Neuroblastoma

Buckley

Alcock

Bryan

et al. 2010

Clinical Cancer Research

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Purpose: The purpose of this study was to further define the biology of the 11q− neuroblastoma tumor subgroup by the integration of array-based comparative genomic hybridization with microRNA (miRNA) expression profiling data to determine if improved patient stratification is possible.Experimental Design: A set of primary neuroblastoma (n = 160), which was broadly representative of all genetic subtypes, was analyzed by array-based comparative genomic hybridization and for the expression of 430 miRNAs. A 15-miRNA expression signature previously shown to be predictive of clinical outcome was used to analyze an independent cohort of 11q− tumors (n = 37).Results: Loss of 4p and gain of 7q occurred at a significantly higher frequency in the 11q− tumors, further defining the genetic characteristics of this subtype. The 11q− tumors could be split into two subgroups using a miRNA expression survival signature that differed significantly in clinical outcome and the overall frequency of large-scale genomic imbalances, with the poor survival subgroup having significantly more imbalances. miRNAs from the expression signature, which were upregulated in unfavorable tumors, were predicted to target downregulated genes from a published mRNA expression classifier of clinical outcome at a higher-than-expected frequency, indicating the miRNAs might contribute to the regulation of genes within the signature.Conclusion: We show that two distinct biological subtypes of neuroblastoma with loss of 11q occur, which differ in their miRNA expression profiles, frequency of segmental imbalances, and clinical outcome. A miRNA expression signature, combined with an analysis of segmental imbalances, provides greater prediction of event-free survival and overall survival outcomes than 11q status by itself, improving patient stratification.

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der(11)t(11;17): a distinct cytogenetic pathway of advanced stage neuroblastoma (NBL) – detected by spectral karyotyping (SKY)

Cited by 14 publications

References 14 publications

Pan-neuroblastoma analysis reveals age- and signature-associated driver alterations

Pan-neuroblastoma analysis reveals age- and signature-associated driver alterations

2p24 Gain Region Harboring MYCN Gene Compared with MYCN Amplified and Nonamplified Neuroblastoma

Chromosomal and MicroRNA Expression Patterns Reveal Biologically Distinct Subgroups of 11q− Neuroblastoma

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