Abstract
Neuroblastoma is the commonest extracranial solid tumour in children. There are a number of molecular genetic features known which are of prognostic importance and which are used to direct therapy. Identification and targeting of high-risk individuals with intensive therapeutic regimens may allow an improvement in survival rates. The most powerful biological parameters associated with prognosis in this malignancy are chromosomal changes, especially MYCNamplification, deletion of chromosome 1p and aneuploidy. Rapid characterization of these aberrations at the time of diagnosis is paramount if stratification according to risk group is to be achieved. This paper describes the rapid detection of del(1p), MYCNamplification and trisomy using interphase fluorescence in situ hybridization on imprints from fresh tumour biopsies. The results are related to those obtained by standard molecular methods and karyotyping. © 2000 Cancer Research Campaign
Similar content being viewed by others
Article PDF
Change history
16 November 2011
This paper was modified 12 months after initial publication to switch to Creative Commons licence terms, as noted at publication
References
Ambros PF, Ambros IM, Strehl S, Bauer S, Luegmayr A, Kovar H, Ladenstein R, Fink FM, Horcher E, Printz G, Mutz I, Schilling F, Urban C and Gadner, (1995) Regression and progression in neuroblastoma. Does genetics predict tumour behaviour?. Eur J Cancer 31A: 410–515
Avet-Loiseau H, Venaut AM, Benard J, Leibovitch MP, Hartmann O and Bernheim A (1995) Morphologic and molecular cytogenetics in neuroblastoma. Cancer 75: 1694–1699
Bourhis J, DeVathaire F, Wilson GD, Hartmann O, Terrier-Lacombe MJ, Boccon-Gibod L, McNally NJ, Lemerle J, Riou G and Benard J 1991a) Combined analysis of DNA ploidy index and N-myc genomic content in neuroblastoma. Cancer Res 52: 33–36
Bourhis J, Dominici C, McDowell H, Raschella G, Wilson G, Castello MA, Plouvier E, Lemerle J, Riou G, Benard J and Hartmann O 1991b) N-myc genomic content and DNA ploidy in stage IVs neuroblastoma. J Clin Oncol 9: 1371–1375
Bown N, Cotterill S, Lastowska M, Brinkschmidt C, Meddeb M, Plantaz D and Speleman F (1998) European multicentre study of 274 neuroblastoma tumours demonstrates that 17q gain is a powerful prognostic indicator. Med Ped Oncol 31: 190
Bown N, Cotterill S, Lastowska M, O’Neill S, Pearson AD, Plantaz D, Meddeb M, Danglot G, Brinkschmidt C, Christiansen H, Laureys G and Speleman F (1999) Gain of chromosome arm 17q and adverse outcome in patients with neuroblastoma. N Engl J Med 340: 1954–1961
Brodeur GM and Fong C-T (1989) Molecular biology and genetics of human neuroblastoma. Cancer Genet Cytogenet 41: 153–174
Brodeur GM, Seeger RC, Schwab M, Varmus HE and Bishop JM (1984) Amplification of N-myc in untreated human neuroblastomas correlates with advanced disease stage. Science 224: 1121–1124
Brodeur GM, Pritchard J, Berthold F, Carlsen NLT, Castel V, Castleberry RP, De Bernardi B, Evans AE, Favrot M, Hedborg F, Kaneko M, Kemshead J, Lampert F, Lee REJ, Look AT, Pearson ADJ, Philip T, Roald B, Sawada T, Seeger RC, Tsuchida Y and Voute PA (1993) Revisions of the international criteria for neuroblastoma diagnosis, staging and response to treatment. J Clin Oncol 11: 1466–1477
Caron H, van Sluis P, van Hoeve M, de Kraker J, Bras J, Slater R, Mannens M, Voute PA, Westerveld A and Versteeg R (1993) Allelic loss of chromosome 1p36 in neuroblastoma is of preferential maternal origin with N-myc amplification. Nature genetics 4: 187–190
Caron H, van Sluis P, de Kraker J, Bokkerink J, Egeler M, Laureys G, Slater R, Westerveld A, Voute PA and Versteeg R (1996) Allelic loss of chromosome 1p as a predictor of unfavourable outcome in petients with neuroblastoma. N Engl J Med 334: 225–230
Castleberry RP, Pritchard J, Ambros P, Berthold F, Brodeur GM, Castel V, Cohn SL, De Bernardi B, Dicks-Mireaux C, Frappaz D, Haase GM, Haber M, Jones DR, Joshi VV, Kaneko M, Kemshead JT, Kogner P, Lee REJ, Matthay KK, Michon JM, Monclair R, Roald BR, Seeger RC, Shaw PJ, Shimada H and Shuster JJ (1997) The international neuroblastoma report. Eur J Cancer 33: 2116–2116
Christiansen H and Lampert F (1988) Tumour karyotype discriminates between good and bad prognostic outcome in neuroblastoma. Br J Cancer 57: 121–126
Christiansen H, Schestag J, Christiansen NM, Grzeschik K-H and Lampert F (1992) Clinical impact of chromosome 1 aberrations in neuroblastoma: a metaphase and interphase cytogenetic study. Genes, Chromosomes Cancer 5: 141–149
Combaret V, Turc-Carel C, Thiesse P, Rebillard AC, Frappaz D, Haus O, Philip T and Favrot MC (1995) Sensitive detection of numerical and structural aberrations of chromosome 1 in neuroblastoma by interphase fluorescence in situ hybridization. Comparison with restriction fragment length polymorphism and conventional cytogenetic analysis. Int J Cancer 61: 185–191
Cooke HJ and Hindley J (1979) Cloning of human satellite III DNA: Different components are on different chromosomes. Nucleic Acids Res 6: 3177–3197
Crabbe DCG, Peters J and Seeger RC (1992) Rapid detection of MYCN gene amplification in neuroblastoma using the polymerase chain reaction. Diagn Mol Pathol 1: 229–234
Eckschlager T and McClain K (1996) Comparison of fluorescent in situ hybridization (FISH) and the polymerase chain reaction (PCR) for the detection of residual neuroblastoma cells. Neoplasma 43: 301–303
Evans AE, D’angio GJ, Propert K, Anderson J and Hann H-WL (1987) Prognostic factors in neuroblastoma. Cancer 59: 1853–1859
Fong C, Dracopoli NC, White PS, Merrill PT, Griffith RC, Housman DE and Brodeur GM (1989) Loss of heterozygosity for the short arm of chromosome 1 in human neuroblastomas: correlation with N-myc ampification. Proc Natl Acad Sci USA 86: 3753–3757
Fong CT, White PS, Peterson K, Sapienza C, Cavenee WK, Kern S, Vogelstein B, Cantor AB, Look AT and Brodeur GM (1992) Loss of heterozygosity for chromosome 1 or 14 defines subsets of advanced neuroblastomas. Cancer Res 52: 1780–1785
Gansler T, Chatten J, Varello M, Bunin GR and Atkinson B (1986) Flow cytometric analysis of neuroblastoma: correlation with histology and clinical outcome. Cancer 58: 2453–2458
Hayashi Y, Kanda N, Inaba T, Hanada R, Nagahara N, Muchi H and Yamamoto K (1989) Cytogenetic findings and prognosis in neuroblastoma with emphasis on marker chromosome 1. Cancer 63: 126–132
Kallioniemi O-P, Kallioniemi A, Kurisu W, Thor A, Chen L-C, Smith HS, Waldman FM, Pinkel D and Gray JW (1992) ERBB2 amplification in breast cancer analysed by fluorescence in situ hybridization. Proc Natl Acad Sci USA 89: 5321–5325
Lastowska M, Nacheva E, McGuckin A, Curtis A, Grace C, Pearson A and Bown N (1997) Comparative genomic hybridization study of primary neuroblastoma tumours. United Kingdom Children’s Cancer Study Group. Genes Chromosomes Cancer 18: 162–169
Look AT, Hayes FA, Nitschke R, McWilliam N and Green A (1984) Cellular DNA content as a predictor of response to chemotherapy in infants with unresectable neuroblastoma. N Engl J Med 311: 231–235
Look AT, Hayes FA, Shuster JJ, Douglass EC, Castleberry RP, Bowman LC, Smith EI and Brodeur GM (1991) Clinical relevance of tumor cell ploidy and N-myc gene amplification in childhood neuroblastoma: a pediatric oncology group study. J Clin Oncol 9: 581–591
Meddeb M, Danglot G, Chudoba I, Venuat A-M, Benard J, Avet-Loiseau H, Vassear B, Le Paslier D, Terrier-Lacombe M-J, Hartmann O and Bernheim A (1996) Additional copies of a 25Mb chromosomal region originating from 17q23.1–17qter are present in 90% of high grade neuroblastomas. Genes Chromosomes Cancer 17: 156–165
Oppedal BR, Storm-Mathisen I, Lie SO and Brandtzaeg P (1988) Prognostic factors in neuroblastoma. Clinical, histopathologic, and immunohistochemical features and DNA ploidy in relation to prognosis. Cancer 62: 772–780
Peter M, Michon J, Vielh P, Neuenschwander S, Nakamura Y, Sonsino E, Zucker J-M, Vergnaud G, Thomas G and Delattre O (1992) PCR assay for chromosome 1p deletion in small neuroblastoma samples. Int J Cancer 52: 544–548
Pinkel D, Shaume T and Grey JW (1986) Cytogenetic analysis using quantitative, high sensitivity, fluorescence hybridization. Proc Natl Acad Sci USA 83: 2934
Rubie H, Delattre O, Hartmann O, Combaret V, Michon J, Benard J, Peyroulet MC, Plantaz D, Coze C, Chastagner P, Baranzelli MC, Frappaz D, Lemerle J and Sommelet D (1997) Loss of chromosome 1p may have a prognostic value in localised neuroblastoma: results of the French NBL 90 study. Eur J Cancer 33: 1917–1922
Schleiermacher G, Peter M, Michon J, Hugot J-P, Vielh P, Zucker J-M, Magdelenat H, Thomas G and Delattre O (1994) Two distinct deleted regions on the short arm of chromosome 1 in neuroblastoma. Genes Chromosomes Cancer 10: 275–281
Schwab M, Alitalo K, Klempnauer K-H, Varmus HE, Bishop JM, Gilbert F, Brodeur GM, Goldstein M and Trent J (1983) Amplified DNA with limited homology to myc cellular oncogene is shared by human neuroblastoma cell lines and a neuroblastoma tumour. Nature 305: 245–248
Schwab M, Varmus HE, Bishop JM, Grzeschik K-H, Naylor SL, Sakaguchi AY, Brodeur GM and Trent J (1984) Chromosome localization in normal human cells and neuroblastomas of a gene related to c-myc. Nature 308: 288–291
Seeger RC, Brodeur GM, Sather H, Dalton A, Siegel SE, Wong KY and Hammond D (1985) Association of multiple copies of the N-myc oncogene with rapid progression of neuroblastomas. N Engl J Med 313: 1111–1116
Shapiro DN, Valentine MB, Rowe ST, Sinclair AE, Sublett JE, Roberts WM and Look AT (1993) Detection of N-myc gene amplification by fluorescence in situ hybridization: diagnostic utility for neuroblastoma. Am J Pathol 142: 1339–1346
Shimada H, Chatten J, Newton WA, Sachs N, Hamoudi AB, Chiba T, Marsden HB and Misuki K (1984) Histopathologic prognostic factors in neuroblastic tumors: definition of subtypes of ganglio-neuroblastomas and age linked classification of neuroblastomas. J Natl Cancer Inst 73: 405–416
Stock C, Ambros AM, Mann G, Gadner H, Amann G and Ambros P (1993) Detection of 1p36 deletions in paraffin sections of neuroblastoma tissues. Genes Chromsomes Cancer 6: 1–9
Takayama H, Suzuki T, Mugishima H, Fujisawa T, Ookuni M, Schwab M, Gehring M, Nakamura Y, Sugimura T, Terada M and Yokota J (1992) Deletion mapping of chromosomes 14q and 1p in human neuroblastoma. Oncogene 7: 1185–1189
Takeda O, Homma C, Maseki N, Sakurai M, Kanda N, Schwab M, Nakamura Y and Kaneko Y (1994) There may be two tumor suppressor genes in chromosome arm 1p closely associated with biologically distinct subtypes of neuroblastoma. Genes, Chromosomes and Cancer 10: 30–39
Taylor CPF, McGuckin AG, Bown NP, Reid MM, Malcolm AJ, Pearson ADJ and Sheer D (1994) Rapid detection of prognostic genetic factors in neuroblastoma using fluorescence in situ hybridisation on tumour imprints and bone marrow smears. Br J Cancer 69: 445–451
Taylor SR, Blatt J, Constantino JP, Roederer M and Murphy RF (1988) Flow cytometric analysis of neuroblastoma and ganglioneuroma: a 10 year retrospective study. Cancer 62: 749–754
Taylor SR and Locker J (1990) A comparative analysis of nuclear DNA content and N-myc gene amplification in neuroblastoma. Cancer 65: 1360–1366
Tsuda T, Obara M, Hirano H, Gotoh S, Kubomura S, Higashi K, Kuroiwa A, Nakagawara A, Nagahara N and Shimizu K (1987) Analysis of N-myc amplification in relation to disease stage and histologic types in human neuroblastomas. Cancer 60: 820–826
Weith A, Martinsson T, Cziepluch C, Bruderlein S, Amler LC, Berthold F and Schwab M (1989) Neuroblastoma consensus deletion maps to 1p36.1-2. Genes Chromosomes Cancer 1: 159–166
White PS, Kaufman BA, Marshall HN and Brodeur GM (1993) Use of the single-strand conformation polymorphism technique to detect loss of heterozygosity in neuroblastoma. Genes Chromosomes Cancer 7: 102–108
Author information
Authors and Affiliations
Consortia
Rights and permissions
From twelve months after its original publication, this work is licensed under the Creative Commons Attribution-NonCommercial-Share Alike 3.0 Unported License. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/3.0/
About this article
Cite this article
Taylor, C., Bown, N., McGuckin, A. et al. Fluorescence in situ hybridization techniques for the rapid detection of genetic prognostic factors in neuroblastoma. Br J Cancer 83, 40–49 (2000). https://doi.org/10.1054/bjoc.2000.1280
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1054/bjoc.2000.1280
Keywords
This article is cited by
-
Ultrastructural features of neuroblastic tumours in relation to morphological, and molecular findings; a retrospective review study
BMC Clinical Pathology (2014)
-
High level amplification of N-MYC is not associated with adverse histology or outcome in primary retinoblastoma tumours
British Journal of Cancer (2002)