Clinical Categories of Neuroblastoma Are Associated with Different Patterns of Loss of Heterozygosity on Chromosome Arm 1p

Mora, Jaume; Cheung, Nai Kong V.; Kushner, Brian H.; LaQuaglia, Michael P.; Krämer, Kim; Fazzari, Melissa; Heller, Glenn; Chen, Lishi; Gerald, William L.

doi:10.1016/s1525-1578(10)60613-7

Cited by 47 publications

(48 citation statements)

References 45 publications

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“…We previously defined a region of allelic loss shared by virtually all primary neuroblastoma tumors with 1p deletions to 1p36.2-p36.3 by LOH analysis of 122 primary tumors , a finding which has subsequently been confirmed by other groups (Martinsson et al, 1997;Mora et al, 2000;Bauer et al, 2001;Spieker et al, 2001;Godfried et al, 2002). Our defined smallest region of consistent deletion (SRD) partially overlapped a constitutional 1p36 deletion in a patient subsequently diagnosed with neuroblastoma.…”

Section: Introductionmentioning

confidence: 58%

“…Several lines of evidence support this hypothesis and further implicate 1p36 as the region most likely to contain a TSG. Numerous loss of heterozygosity (LOH) and molecular cytogenetic analyses of 1p in neuroblastoma have demonstrated allelic loss of 1p36 (Fong et al, 1989;Takayama et al, 1992;Schleiermacher et al, 1994;Takeda et al, 1994;White et al, 1995;Martinsson et al, 1997;Mora et al, 2000;Bauer et al, 2001;Maris et al, 2001;Godfried et al, 2002). Collectively, the incidence of LOH reported ranges from 25 to 35% of primary tumors.…”

Section: Introductionmentioning

confidence: 99%

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Definition and characterization of a region of 1p36.3 consistently deleted in neuroblastoma

et al. 2004

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Substantial genomic and functional evidence from primary tumors and cell lines indicates that a consistent region of distal chromosome 1p is deleted in a sizable proportion of human neuroblastomas, suggesting that this region contains one or more tumor suppressor genes. To determine systematically and precisely the location and extent of 1p deletion in neuroblastomas, we performed allelic loss studies of 737 primary neuroblastomas and genotype analysis of 46 neuroblastoma cell lines. Together, the results defined a single region within 1p36.3 that was consistently deleted in 25% of tumors and 87% of cell lines. Two neuroblastoma patients had constitutional deletions of distal 1p36 that overlapped the tumor-defined region. The tumor-and constitutionally-derived deletions together defined a smallest region of consistent deletion (SRD) between D1S2795 and D1S253. The 1p36.3 SRD was deleted in all but one of the 184 tumors with 1p deletion. Physical mapping and DNA sequencing determined that the SRD minimally spans an estimated 729 kb. Genomic content and sequence analysis of the SRD identified 15 characterized, nine uncharacterized, and six predicted genes in the region. The RNA expression profiles of 21 of the genes were investigated in a variety of normal tissues. The SHREW1 and KCNAB2 genes both had tissue-restricted expression patterns, including expression in the nervous system. In addition, a novel gene (CHD5) with strong homology to proteins involved in chromatin remodeling was expressed mainly in neural tissues. Together, these results suggest that one or more genes involved in neuroblastoma tumorigenesis or tumor progression are likely contained within this region.

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Section: Introductionmentioning

confidence: 58%

Section: Introductionmentioning

confidence: 99%

Definition and characterization of a region of 1p36.3 consistently deleted in neuroblastoma

et al. 2004

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“…We (Mead and Cowell, 1995) described a patient with stage 4S disease, and a constitutional t(1;10)(p22;q21) translocation. The chromosome 1 translocation breakpoint does not lie within the consensus LOH region seen in advanced stage tumors but does lie in the LOH region reported for stage 4S tumors (Mora et al, 2000). Cloning the breakpoint from this translocation identified an inframe fusion of two genes resulting in the truncation and inactivation of the NB4S/EVI5 gene (Roberts et al, 1998a,b).…”

Section: Introductionmentioning

confidence: 96%

WAVE3, an actin-polymerization gene, is truncated and inactivated as a result of a constitutional t(1;13)(q21;q12) chromosome translocation in a patient with ganglioneuroblastoma

Sossey‐Alaoui

Malaj

et al. 2002

Oncogene

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“…They included 11 stage 4s; 64 local-regional (LR) and 102 stage 4. Their clinical features have been described elsewhere (Mora et al, 2000(Mora et al, , 2001b(Mora et al, , 2002a. Matched normal tissues (peripheral blood or bone marrow not affected by tumour) were also procured.…”

Section: Samples and Patientsmentioning

confidence: 99%

“…Allelic analysis for 9p21 was first evaluated in the complete series of 177 NB tumours using a set of four microsatellite markers (cent -D9S301, D9S319, D9S156 and D9S775 -pTer), according to methods previously described (Mora et al, 2000). Further allelotype analysis was carried out in cases showing LOH in the first screening, adding eight microsatellite markers (cent -D9S171, D9S1752, D9S1748, D9S1747, D9S1749, D9S736, D9S1751 and D9S254 -pTer).…”

Section: Allelic Analysismentioning

confidence: 99%

Comprehensive analysis of the 9p21 region in neuroblastoma suggests a role for genes mapping to 9p21–23 in the biology of favourable stage 4 tumours

et al. 2004

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Chromosome 9p21 is frequently deleted in many cancers. Previous reports have indicated that 9p21 LOH is an uncommon finding in neuroblastoma (NB), a tumour of childhood. We have performed an extensive analysis of 9p21 and genes located in this region (cyclin-dependent kinase inhibitor 2A -CDKN2A/p16 INK4b, MTAP, interferon a and b cluster). LOH was detected in 16.4% of 177 NB. The SRO was identified between markers D9S1751 and D9S254, at 9p21 -23, a region telomeric to the CDKN2A and MTAP genes. A significantly better overall and progression-free survival was detected in stage 4 patients displaying 9p21 -23 LOH. Hemizygous deletion of the region harbouring the CDKN2A and CDKN2B loci was identified in two tumours by means of fluorescent in situ hybridisation and MTAP was present by immunostaining in all but one tumour analysed. The transcriptional profile of tumours with 9p21 -23 LOH was compared to that of NB displaying normal 9p21 -23 status by means of oligonucleotide microarrays. Four of the 363 probe sets downregulated in tumours with 9p21 -23 LOH were encoded by genes mapping to 9p22 -24. The only well-characterised transcript among them was nuclear factor I-B3. Our results suggest a role for genes located telomeric of 9p21 in good risk NB.

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Clinical Categories of Neuroblastoma Are Associated with Different Patterns of Loss of Heterozygosity on Chromosome Arm 1p

Abstract: Deletion of the short arm of chromosome 1 is frequently observed in neuroblastoma (NB). We performed loss of heterozygosity (LOH) analysis of

Cited by 47 publications

References 45 publications

Definition and characterization of a region of 1p36.3 consistently deleted in neuroblastoma

Definition and characterization of a region of 1p36.3 consistently deleted in neuroblastoma

WAVE3, an actin-polymerization gene, is truncated and inactivated as a result of a constitutional t(1;13)(q21;q12) chromosome translocation in a patient with ganglioneuroblastoma

Comprehensive analysis of the 9p21 region in neuroblastoma suggests a role for genes mapping to 9p21–23 in the biology of favourable stage 4 tumours

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