Characterization of karyotypic events and evolution in neuroblastoma

Betts, David R.; Cohen, Ninette; Leibundgut, Kurt; Kühne, Thomas; Caflisch, Ueli; Greiner, Jeanette; Traktenbrot, Luba; Niggli, Felix

doi:10.1002/pbc.20179

Cited by 20 publications

(14 citation statements)

References 30 publications

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“…Thus, 11q alterations are a characteristic feature of patients between 2.5 and 7 years at diagnosis. This particular age distribution underscores the opinion, that 11q alterations are probably late and mostly secondary events (22) in tumor evolution. Moreover, in contrast to MYCN-amplified tumors that may be diagnosed early due to their rapid and aggressive growths, the influence of deletions in 11q on cellular behavior is probably less strong and/or less fast.…”

Section: Discussionsupporting

confidence: 63%

“…Nonconstitutional rearrangements affecting chromosome 11 often lead to the formation of a derivative chromosome 11 through unbalanced translocation with chromosome 17 as the main partner (18 -21). These genomic imbalances are considered to be secondary and thus late events in oncogenesis, although there is some indication that not all chromosome 11 aberrations occur at identical periods in tumor evolution (22). In neuroblastoma, genomic changes in 11q define a particular subgroup of patients who show rarely MNA (7,8,11) but show a close association with other structural alterations like loss in 3p (8,10,23,24) and 17q gain (10,23).…”

Section: Discussionmentioning

confidence: 99%

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Loss in Chromosome 11q Identifies Tumors with Increased Risk for Metastatic Relapses in Localized and 4S Neuroblastoma

Spitz

Hero

Simon

et al. 2006

Clinical Cancer Research

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Purpose: To improve risk prediction in neuroblastoma and to specify the type of a possible relapse, alterations in the long arm of chromosome 11were analyzed. Experimental Design: A representative cohort of 611 neuroblastomas was investigated for deletion events in distal chromosome 11q using interphase fluorescence in situ hybridization. Results: Alterations in 11q were found in 159 of 611tumors in the whole cohort (26%) and were associated with stage 4 disease (P < 0.001) and age at diagnosis of >2.5 years (P < 0.001). Eventfree survival and overall survival were significantly poorer for patients with 11q loss in the whole cohort (event-free survival and overall survival, P < 0.001) and in different subsets: neuroblastoma without MYCN amplification (MNA) (event-free survival and overall survival, P < 0.001), with MNA (event-free survival, P = 0.03; overall survival, P = 0.02), and MYCN-nonamplified stage 1, 2, 3, and 4S tumors with and without del 1p (event-free survival and overall survival, P < 0.001). In stage 4, the11q status did not discriminate outcome. By multivariate analysis, the11q status proved prognostic for event-free survival in the whole cohort (P = 0.008; hazard ratio, 1.573) and in the subgroup of stages 1, 2, 3, and 4S without MNA (P < 0.001; hazard ratio, 3.534). Moreover, 11q alterations were strongly correlated with the occurrence of metastatic relapses (P < 0.001). Conclusion:In addition to the current risk stratification, the status of 11q enables the identification of patients with an increased risk for relapses in general and metastatic relapses in particular.

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Section: Discussionsupporting

confidence: 63%

Section: Discussionmentioning

confidence: 99%

Loss in Chromosome 11q Identifies Tumors with Increased Risk for Metastatic Relapses in Localized and 4S Neuroblastoma

Spitz

Hero

Simon

et al. 2006

Clinical Cancer Research

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“…Other chromosomal regions observed at significant frequencies include losses at 9p, 13q, and 14q [25]. CGH analysis of the first frontotemporal relapse in our patient showed gain of chromosome 7 as well as losses of chromosomes 4, 9, 10p and 15q which are recognized as sequential aberrations occurring during neuroblastoma progression [30], but can in part be seen in primary sPNET [25]. The second cerebral tumor in our patient featured repeated losses of chromosomes 9 and 15, compatible with a clonal origin of both relapses.…”

Section: Discussionmentioning

confidence: 99%

CNS Tumor 22 Years after Spinal Neuroblastoma IV: Diagnostic Dilemma between Recurrence and Secondary Malignancy

Gutenberg

Schulten²,

Gunawan³

et al. 2009

Pediatr Neurosurg

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We present the very unusual case of a young woman suffering from a brain tumor 22 years after a stage IV spinal neuroblastoma as an infant, demonstrating the difficulties of differentiating late neuroblastoma relapse from secondary supratentorial primitive neuroectodermal tumor (sPNET). Lacking specific immunohistochemical features, the first cerebral tumor at the age of 21 was regarded as sPNET, and we pursued a therapeutic approach consisting of neurosurgical resection as well as irradiation and high-dose alkylator-based chemotherapy according to the HIT2000 protocol. Two years later the patient suffered from a diffusely infiltrating local recurrence, changing its imaging appearance as well as its immunohistochemical characteristics, now revealing disseminated positivity for neuron-specific enolase and neural cell adhesion molecule. Moreover, the lack of PNET-specific translocations (EWS/FLI1 gene fusion) in both brain tumors as well as the development of hepatic metastases was more compatible with the diagnosis of a very late relapse 22 years after initial stage IV spinal neuroblastoma.

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“…To date, many different methods have been used for the detection of deletions and gains including chromosome analysis [5,19,36,52], Southern blot [41], fluorescence in situ hybridization (FISH) [49,59], metaphasic comparative genomic hybridization (mCGH) [29,38,43], and real-time quantitative polymerase chain reaction (PCR) [6]. However, these methods have some limitations.…”

Section: Introductionmentioning

confidence: 99%

Comparison of different techniques for the detection of genetic risk-identifying chromosomal gains and losses in neuroblastoma

et al. 2008

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Neuroblastoma (NB) is a pediatric neoplasia that shows complex combinations of acquired genetic aberrations. The specific genes and the molecular mechanisms responsible for development and progression of NB remain poorly understood. Our main objective is to compare the results obtained with different techniques for the detection of genomic data in 20 patients with NB using the information obtained to select the appropriate technique in routine analysis for the therapeutic stratification. The genetic methods used in this study are multiprobe fluorescence in situ hybridization (FISH) assay, metaphasic comparative genomic hybridization (mCGH), array comparative genomic hybridization (aCGH), and the multiplex ligation-dependent probe amplification (MLPA). Genomic copy number abnormalities were used to group the cases in four categories: MYCN amplification cases; 11q deletion tumors; cases with partial chromosome gains or losses and samples with entire chromosome alterations. The data obtained from the multigenomic techniques showed a high degree of concordance and our findings support the hypothesis that NB consists of biologically distinct subgroups that differ by genetic characteristics of prognostic relevance. FISH will be essential for the mandatory study of MYCN status. The use of MLPA as routine technique is an advantage procedure for detecting the implication of the common genetic alterations in NB.

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Characterization of karyotypic events and evolution in neuroblastoma

Abstract: This study suggests that the karyotypic patterns characterizing NB are complex. There are aberrations that can be grouped into early or late karyotypic events, but others, such as gain of 17q, are variable.

Cited by 20 publications

References 30 publications

Loss in Chromosome 11q Identifies Tumors with Increased Risk for Metastatic Relapses in Localized and 4S Neuroblastoma

Loss in Chromosome 11q Identifies Tumors with Increased Risk for Metastatic Relapses in Localized and 4S Neuroblastoma

CNS Tumor 22 Years after Spinal Neuroblastoma IV: Diagnostic Dilemma between Recurrence and Secondary Malignancy

Comparison of different techniques for the detection of genetic risk-identifying chromosomal gains and losses in neuroblastoma

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