Neuroblastoma Tumour Genetics: Clinical and Biological Aspects

Overview

Journal J Clin Pathol

Specialty Pathology

Date 2001 Dec 1

PMID 11729208

Citations 33

Authors

N Bown

Affiliations

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Abstract

Neuroblastoma tumour cells show complex combinations of acquired genetic aberrations, including ploidy changes, deletions of chromosome arms 1p and 11q, amplification of the MYCN oncogene, and-most frequently-gains of chromosome arm 17q. Despite intensive investigation, the fundamental role of these features in neuroblastoma initiation and progression remains to be understood. Nonetheless, great progress has been made in relating tumour genetic abnormalities to tumour behaviour and to clinical outcome; indeed, neuroblastoma provides a paradigm for the clinical importance of tumour genetic abnormalities. Knowledge of MYCN status is increasingly being used in treatment decisions for individual children, and the clinical value of 1p and 17q data as adjuncts or refinements in risk stratification is under active investigation. Reliable detection of these molecular cytogenetic features should be regarded as mandatory for all new cases at presentation.

Citing Articles

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Amplification, along with Wild-Type RB1 Expression, Enhances CDK4/6 Inhibitors' Efficacy in Neuroblastoma Cells.

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References

Naito M, IWAFUCHI M, Ohsawa Y, Uchiyama M, Hirota M, Matsuda Y . Flow cytometric DNA analysis of neuroblastoma: prognostic significance of DNA ploidy in unfavorable group. J Pediatr Surg. 1991; 26(7):834-7. DOI: 10.1016/0022-3468(91)90150-r. View

Caron H, Peter M, van Sluis P, Speleman F, de Kraker J, Laureys G . Evidence for two tumour suppressor loci on chromosomal bands 1p35-36 involved in neuroblastoma: one probably imprinted, another associated with N-myc amplification. Hum Mol Genet. 1995; 4(4):535-9. DOI: 10.1093/hmg/4.4.535. View

Brodeur G, Seeger R, Schwab M, Varmus H, Bishop J . Amplification of N-myc in untreated human neuroblastomas correlates with advanced disease stage. Science. 1984; 224(4653):1121-4. DOI: 10.1126/science.6719137. View

Poremba C, Willenbring H, Hero B, Christiansen H, Schafer K, Brinkschmidt C . Telomerase activity distinguishes between neuroblastomas with good and poor prognosis. Ann Oncol. 1999; 10(6):715-21. DOI: 10.1023/a:1008333500733. View

Maris J, Weiss M, Guo C, Gerbing R, Stram D, White P . Loss of heterozygosity at 1p36 independently predicts for disease progression but not decreased overall survival probability in neuroblastoma patients: a Children's Cancer Group study. J Clin Oncol. 2000; 18(9):1888-99. DOI: 10.1200/JCO.2000.18.9.1888. View

Srivatsan E, Ying K, Seeger R . Deletion of chromosome 11 and of 14q sequences in neuroblastoma. Genes Chromosomes Cancer. 1993; 7(1):32-7. DOI: 10.1002/gcc.2870070106. View

Matthay K, Perez C, Seeger R, Brodeur G, Shimada H, Atkinson J . Successful treatment of stage III neuroblastoma based on prospective biologic staging: a Children's Cancer Group study. J Clin Oncol. 1998; 16(4):1256-64. DOI: 10.1200/JCO.1998.16.4.1256. View

Schleiermacher G, Peter M, Michon J, Hugot J, Vielh P, Zucker J . Two distinct deleted regions on the short arm of chromosome 1 in neuroblastoma. Genes Chromosomes Cancer. 1994; 10(4):275-81. DOI: 10.1002/gcc.2870100409. View

Lorenzana A, Zielenska M, Thorner P, Gerrie B, Weitzman S, Squire J . Heterogeneity of MYCN amplification in a child with stroma-rich neuroblastoma (ganglioneuroblastoma). Pediatr Pathol Lab Med. 1997; 17(6):875-83. View

10.

White P, Maris J, Beltinger C, SULMAN E, Marshall H, Fujimori M . A region of consistent deletion in neuroblastoma maps within human chromosome 1p36.2-36.3. Proc Natl Acad Sci U S A. 1995; 92(12):5520-4. PMC: 41727. DOI: 10.1073/pnas.92.12.5520. View

11.

Amler L, Schwab M . Amplified N-myc in human neuroblastoma cells is often arranged as clustered tandem repeats of differently recombined DNA. Mol Cell Biol. 1989; 9(11):4903-13. PMC: 363641. DOI: 10.1128/mcb.9.11.4903-4913.1989. View

12.

Schwab M, Varmus H, Bishop J, Grzeschik K, Naylor S, Sakaguchi A . Chromosome localization in normal human cells and neuroblastomas of a gene related to c-myc. Nature. 1984; 308(5956):288-91. DOI: 10.1038/308288a0. View

13.

Amler L, Shibasaki Y, Savelyeva L, Schwab M . Amplification of the N-myc gene in human neuroblastomas: tandemly repeated amplicons within homogeneously staining regions on different chromosomes with the retention of single copy gene at the resident site. Mutat Res. 1992; 276(3):291-7. DOI: 10.1016/0165-1110(92)90015-2. View

14.

Takeda O, Handa M, Uehara T, Maseki N, Sakashita A, Sakurai M . An increased NM23H1 copy number may be a poor prognostic factor independent of LOH on 1p in neuroblastomas. Br J Cancer. 1996; 74(10):1620-6. PMC: 2074847. DOI: 10.1038/bjc.1996.598. View

15.

Bader S, Fasching C, Brodeur G, Stanbridge E . Dissociation of suppression of tumorigenicity and differentiation in vitro effected by transfer of single human chromosomes into human neuroblastoma cells. Cell Growth Differ. 1991; 2(5):245-55. View

16.

Bordow S, Norris M, Haber P, Marshall G, Haber M . Prognostic significance of MYCN oncogene expression in childhood neuroblastoma. J Clin Oncol. 1998; 16(10):3286-94. DOI: 10.1200/JCO.1998.16.10.3286. View

17.

Biegel J, White P, Marshall H, Fujimori M, Zackai E, Scher C . Constitutional 1p36 deletion in a child with neuroblastoma. Am J Hum Genet. 1993; 52(1):176-82. PMC: 1682134. View

18.

Theobald M, Christiansen H, Schmidt A, MELEKIAN B, Wolkewitz N, Christiansen N . Sublocalization of putative tumor suppressor gene loci on chromosome arm 14q in neuroblastoma. Genes Chromosomes Cancer. 1999; 26(1):40-6. View

19.

Altura R, Maris J, Li H, Boyett J, Brodeur G, Look A . Novel regions of chromosomal loss in familial neuroblastoma by comparative genomic hybridization. Genes Chromosomes Cancer. 1997; 19(3):176-84. DOI: 10.1002/(sici)1098-2264(199707)19:3<176::aid-gcc7>3.0.co;2-v. View

20.

Marshall B, Isidro G, Martins A, Boavida M . Loss of heterozygosity at chromosome 9p21 in primary neuroblastomas: evidence for two deleted regions. Cancer Genet Cytogenet. 1997; 96(2):134-9. DOI: 10.1016/s0165-4608(96)00300-7. View