Neuroblastoma in a boy with MCA/MR syndrome, deletion 11q, and duplication 12q

Koiffmann, Célia Priszkulnik; Gonzalez, Claudette Hajaj; Vianna‐Morgante, Angela Maria; Kim, Chong; Odone-Filho, V.; Wajntal, Anita

doi:10.1002/ajmg.1320580110

Cited by 28 publications

(19 citation statements)

References 16 publications

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“…Evidence for its particular role in tumor development has come not only from the frequency of this aberration in primary tumors (26% in the present study) but also because constitutional 11q alterations were reported in neuroblastoma patients (16,17). 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).…”

Section: Discussionmentioning

confidence: 59%

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

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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: Discussionmentioning

confidence: 59%

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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“…To our knowledge, this is the first case of a 12q22q24.33 pure duplication. In a review of nine cases with wider 12q duplications, Koiffmann et al [1995] emphasized the similarity of the physical findings among the reported individuals, suggesting a clinically distinct syndrome. In order to contribute to a better karyotype/phenotype correlation, in this review we considered only four cases of 12q pure duplication involving a chromosomal region partially overlapping those identified in present case (Table I).…”

Section: Discussionmentioning

confidence: 96%

De novo pure 12q22q24.33 duplication: First report of a case with mental retardation, ADHD, and Dandy‐Walker malformation

Cappellacci

Martinelli

Rinaldi

et al. 2006

American J of Med Genetics Pt A

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We present a patient with a de novo 12q nonmosaic pure duplication characterized by multiple minor anomalies and Dandy-Walker malformation. A neurological and behavioral assessment revealed psychomotor retardation and attention deficit/hyperactivity disorder (ADHD), with neurobehavioral abnormalities (auto- and heteroaggressive behavior). Fluoxetine therapy in this case markedly improved the neurobehavioral profile, with a decreased level of aggression. To define the extension of the duplicated region, we performed FISH analyses by using YAC probes. The analyses revealed a tandem duplication of the 12q22q24.33 region, with the proximal breakpoint located between 96.5 and 97.6 cM and the distal one between 154 and 161 cM. This is the first case of pure de novo duplication involving the 12q22q24.33 region. To better define the clinical phenotype associated with 12q partial duplication, we compared our case with the four patients with similar pure duplications previously described.

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“…Deletions of 11q have been noted in approximately 15 ± 20% of reported neuroblastoma karyotypes (Mertens et al, 1997), and transfer of an intact chromosome 11 into the neuroblastoma cell line NGP induced dierentiation (Bader et al, 1991). Constitutional rearrangements of 11q have also been observed in some neuroblastoma patients (Bown et al, 1993;Koimann et al, 1995;Moorhead and Evans, 1980;Pegelow et al, 1975), suggesting that disruption of an 11q gene may predispose to the development of neuroblastoma. Loss of heterozygosity (LOH) for 11q was detected in 5 ± 32% of primary neuroblastomas using restriction fragment length polymorphism markers (Fong et al, 1992;Srivatsan et al, 1993;Takeda et al, 1996;Takita et al, 1995).…”

Section: Introductionmentioning

confidence: 99%

Allelic deletion at 11q23 is common in MYCN single copy neuroblastomas

et al. 1999

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Deletions of the long arm of chromosome 11 (11q) have been noted in primary neuroblastomas, but a comprehensive analysis has not been performed. Therefore, we analysed 331 neuroblastomas (295 sporadic, 15 familial and 21 tumor-derived cell lines) to determine the prevalence of 11q allelic deletions, to map the location of a putative tumor suppressor gene and to perform clinical correlative studies. Assays for loss of heterozygosity (LOH) were performed at 24 microsatellite loci spanning 11q. LOH was observed at multiple 11q loci in 129/295 (44%) sporadic neuroblastomas, 5/15 (33%) familial neuroblastomas, and 5/21 (24%) neuroblastoma cell lines. A single region of 2.1 cM within 11q23.3, anked by markers D11S1340 and D11S1299, was deleted in all specimens with 11q LOH. Allelic loss at 11q23 was inversely related to MYCN ampli®cation (P50.001). Within the subset of cases with a single copy of MYCN, 11q LOH was associated with advanced stage disease (P=0.008), unfavorable histopathology (P=0.042), and decreased overall survival probability (P=0.008). However, 11q LOH was not independently prognostic in multivariate analyses. These data support the hypothesis that a tumor suppressor gene mapping within 11q23.3 is commonly inactivated during the malignant evolution of a large subset of neuroblastomas, especially those with unampli®ed MYCN.

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Neuroblastoma in a boy with MCA/MR syndrome, deletion 11q, and duplication 12q

Cited by 28 publications

References 16 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

De novo pure 12q22q24.33 duplication: First report of a case with mental retardation, ADHD, and Dandy‐Walker malformation

Allelic deletion at 11q23 is common in MYCN single copy neuroblastomas

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