Comparative study of MLPA-FISH to determine DNA copy number alterations in neuroblastic tumors

Histology and Histopathology

Volumn 26, Issue 3, 2011, Pages 343-350

  Villamon E ^a   Piqueras, M ^a   Berbegall, A P ^a   Tadeo, I ^a   Castel, V ^b   Navarro, S ^a   Noguera, R ^a  

^a UNIVERSITY OF VALENCIA   (Spain)

^b HOSPITAL UNIVERSITARIO LA FE   (Spain)

Author keywords

FISH; Genetic alterations; MLPA; Neuroblastoma; Validation

Indexed keywords

COLORING AGENT; DNA; FLUORESCENT DYE; PARAFFIN;

ARTICLE; CHROMOSOME; COMPARATIVE STUDY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DOSAGE; GENETICS; HUMAN; METHODOLOGY; NEUROBLASTOMA; PATHOLOGY;

CHROMOSOMES; COLORING AGENTS; DNA; FLUORESCENT DYES; GENE DOSAGE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; NEUROBLASTOMA; PARAFFIN EMBEDDING;

EID: 79952326556     PISSN: 02133911     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (35)

1. Ahn J.W., Ogilvie C.M., Welch A., Thomas H., Madula R., Hills A., Donaghue C. and Mann K. (2007). Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre. BMC Med. Genet. 8, 9.
2. Alibakhshi R., Kianishirazi R., Cassiman J.J., Zamani M. and Cuppens H. (2008). Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations. J. Cyst. Fibros. 7, 102-109. (Pubitemid 351384304)
3. Ambros P.F. and Ambros I.M. (2001). Pathology and biology guidelines for resectable and unresectable neuroblastic tumors and bone marrow examination guidelines. Med. Pediatr. Oncol. 37, 492-504. (Pubitemid 33101388)
4. Ambros P.F., Ambros I.M., Kerbl R., Luegmayr A., Rumpler S., Ladenstein R., Amann G., Kovar H., Horcher E., De Bernardi B., Michon J. and Gadner H. (2001). Intratumoural heterogeneity of 1p deletions and MYCN amplification in neuroblastomas. Med. Pediatr. Oncol. 36, 1-4.
5. Ambros I.M., Benard J., Boavida M., Bown N., Caron H., Combaret V., Couturier J., Darnfors C., Delattre O., Freeman-Edward J., Gambini C., Gross N., Hattinger C.M., Luegmayr A., Lunec J., Martinsson T., Mazzocco K., Navarro S., Noguera R., O'Neill S., Potschger U., Rumpler S., Speleman F., Tonini G.P., Valent A., Van Roy N., Amann G., De Bernardi B., Kogner P., Ladenstein R., Michon J., Pearson A.D. and Ambros P.F. (2003). Quality assessment of genetic markers used for therapy stratification. J. Clin. Oncol. 21, 2077-2084. (Pubitemid 46606355)
6. Ambros P.F., Ambros I.M., Brodeur G.M., Haber M., Khan J., Nakagawara A., Schleiermacher G., Speleman F., Spitz R., London W.B., Cohn S.L., Pearson A.D. and Maris J.M. (2009). International consensus for neuroblastoma molecular diagnostics: report from the International Neuroblastoma Risk Group (INRG) Biology Committee. Br. J. Cancer 100, 1471-1482.
7. Betts D.R., Cohen N., Leibundgut K.E., Kuhne T., Caflisch U., Greiner J., Traktenbrot L. and Niggli F.K. (2005). Characterization of karyotypic events and evolution in neuroblastoma. Pediatr. Blood Cancer 44, 147-157. (Pubitemid 40041531)
8. Boensch M., Oberthuer A., Fischer M., Skowron M., Oestreich J., Berthold F. and Spitz R. (2005). Quantitative real-time PCR for quick simultaneous determination of therapy-stratifying markers MYCN amplification, deletion 1p and 11q. Diagn. Mol. Pathol. 14, 177-182. (Pubitemid 41391801)
9. Caren H., Erichsen J., Olsson L., Enerback C., Sjoberg R.M., Abrahamsson J., Kogner P. and Martinsson T. (2008). High-resolution array copy number analyses for detection of deletion, gain, amplification and copy-neutral LOH in primary neuroblastoma tumors: four cases of homozygous deletions of the CDKN2A gene. BMC Genomics 9, 353.
10. Caron H., van Sluis P., Buschman R., Pereira do Tanque R., Maes P., Beks L., de Kraker J., Voute P.A., Vergnaud G., Westerveld A., Slater R. and Versteeg R. (1996). Allelic loss of the short arm of chromosome 4 in neuroblastoma suggests a novel tumour suppressor gene locus. Hum. Genet. 97, 834-837. (Pubitemid 26150858)
11. Carr J., Bown N.P., Case M.C., Hall A.G., Lunec J. and Tweddle D.A. (2007). High-resolution analysis of allelic imbalance in neuroblastoma cell lines by single nucleotide polymorphism arrays. Cancer Genet. Cytogenet 172, 127-138. (Pubitemid 46043573)
12. Castel V., Canete A., Navarro S., Garcia-Miguel P., Melero C., Acha T., Navajas A. and Badal M.D. (2001). Outcome of high-risk neuroblastoma using a dose intensity approach: improvement in initial but not in long-term results. Medical Pediatr. Oncol. 37, 537-542. (Pubitemid 33101394)
13. Cohn S.L., Pearson A.D., London W.B., Monclair T., Ambros P.F., Brodeur G.M., Faldum A., Hero B., Iehara T., Machin D., Mosseri V., Simon T., Garaventa A., Castel V. and Matthay K.K. (2009). The International Neuroblastoma Risk Group (INRG) classification system: an INRG Task Force report. J. Clin. Oncol. 27, 289-297.
14. Chen Q.R., Bilke S., Wei J.S., Whiteford C.C., Cenacchi N., Krasnoselsky A.L., Greer B.T., Son C.G., Westermann F., Berthold F., Schwab M., Catchpoole D. and Khan J. (2004). cDNA array-CGH profiling identifies genomic alterations specific to stage and MYCN-amplification in neuroblastoma. BMC Genomics 5, 70.
15. Erlandson A., Samuelsson L., Hagberg B., Kyllerman M., Vujic M. and Wahlstrom J. (2003). Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients. Genet. Test 7, 329-332. (Pubitemid 38199268)
16. George R.E., London W.B., Cohn S.L., Maris J.M., Kretschmar C., Diller L., Brodeur G.M., Castleberry R.P. and Look A.T. (2005). Hyperdiploidy plus nonamplified MYCN confers a favorable prognosis in children 12 to 18 months old with disseminated neuroblastoma: a Pediatric Oncology Group study. J. Clin. Oncol. 23, 6466-6473. (Pubitemid 46190237)
17. Hogervorst F.B., Nederlof P.M., Gille J.J., McElgunn C.J., Grippeling M., Pruntel R., Regnerus R., van Welsem T., van Spaendonk R., Menko F.H., Kluijt I., Dommering C., Verhoef S., Schouten J.P., van't Veer L.J. and Pals G. (2003). Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method. Cancer Res. 63, 1449-1453. (Pubitemid 36373627)
18. Janoueix-Lerosey I., Schleiermacher G., Michels E., Mosseri V., Ribeiro A., Lequin D., Vermeulen J., Couturier J., Peuchmaur M., Valent A., Plantaz D., Rubie H., Valteau-Couanet D., Thomas C., Combaret V., Rousseau R., Eggert A., Michon J., Speleman F. and Delattre O. (2009). Overall genomic pattern is a predictor of outcome in neuroblastoma. J. Clin. Oncol. 27, 1026-1033.
19. Jeuken J., Cornelissen S., Boots-Sprenger S., Gijsen S. and Wesseling P. (2006). Multiplex ligation-dependent probe amplification: a diagnostic tool for simultaneous identification of different genetic markers in glial tumors. J. Mol. Diagn. 8, 433-443. (Pubitemid 44377925)
20. Kriek M., Knijnenburg J., White S.J., Rosenberg C., den Dunnen J.T., van Ommen G.J., Tanke H.J., Breuning M.H. and Szuhai K. (2007). Diagnosis of genetic abnormalities in developmentally delayed patients: a new strategy combining MLPA and array-CGH. Am. J. Med. Genet. A 143, 610-614. (Pubitemid 46348906)
21. Landis R. and Koch G. (1977). The measurement of observer agreement for categorical data. Biometrics 33, 671-679. (Pubitemid 8236338)
22. Moelans C.B., de Weger R.A., van Blokland M.T., Ezendam C., Elshof S., Tilanus M.G. and van Diest P.J. (2009). HER-2/neu amplification testing in breast cancer by multiplex ligation-dependent probe amplification in comparison with immunohistochemistry and in situ hybridization. Cell Oncol. 31, 1-10.
23. Monclair T., Brodeur G.M., Ambros P.F., Brisse H.J., Cecchetto G., Holmes K., Kaneko M., London W.B., Matthay K.K., Nuchtern J.G., von Schweinitz D., Simon T., Cohn S.L. and Pearson A.D. (2009). The International Neuroblastoma Risk Group (INRG) staging system: an INRG Task Force report. J. Clin. Oncol. 27, 298-303.
24. Nakagawa H., Hampel H. and de la Chapelle A. (2003). Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniques. Hum. Mutat. 22, 258.
25. Noguera R., Villamon E., Berbegall A., Machado I., Giner F., Tadeo I., Navarro S. and Llombart-Bosch A. (2010). Gain of MYCN region in a Wilms tumor-derived xenotransplanted cell line. Diagn. Mol. Pathol. 19, 33-39.
26. Sartelet H., Grossi L., Pasquier D., Combaret V., Bouvier R., Ranchere D., Plantaz D., Munzer M., Philip T., Birembaut P., Zahm J.M., Bergeron C., Gaillard D. and Pasquier B. (2002). Detection of N-myc amplification by FISH in immature areas of fixed neuroblastomas: more efficient than Southern blot/PCR. J. Pathol. 198, 83-91. (Pubitemid 34966211)
27. Savola S., Nardi F., Scotlandi K., Picci P. and Knuutila S. (2007). Microdeletions in 9p21.3 induce false negative results in CDKN2A FISH analysis of Ewing sarcoma. Cytogenet. Genome Res. 119, 21-26.
28. Scaruffi P., Coco S., Cifuentes F., Albino D., Nair M., Defferrari R., Mazzocco K. and Tonini G.P. (2007). Identification and characterization of DNA imbalances in neuroblastoma by high-resolution oligonucleotide array comparative genomic hybridization. Cancer Genet. Cytogenet. 177, 20-29. (Pubitemid 47211294)
29. Schleiermacher G., Michon J., Huon I., d'Enghien C.D., Klijanienko J., Brisse H., Ribeiro A., Mosseri V., Rubie H., Munzer C., Thomas C., Valteau-Couanet D., Auvrignon A., Plantaz D., Delattre O. and Couturier J. (2007). Chromosomal CGH identifies patients with a higher risk of relapse in neuroblastoma without MYCN amplification. Br. J. Cancer 97, 238-246. (Pubitemid 47057465)
30. Schouten J.P., McElgunn C.J., Waaijer R., Zwijnenburg D., Diepvens F. and Pals G. (2002). Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 30, e57.
31. Selzer R.R., Richmond T.A., Pofahl N.J., Green R.D., Eis P.S., Nair P., Brothman A.R. and Stallings R.L. (2005). Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH. Genes Chromosomes Cancer 44, 305-319. (Pubitemid 41397100)
32. Theissen J., Boensch M., Spitz R., Betts D., Stegmaier S., Christiansen H., Niggli F., Schilling F., Schwab M., Simon T., Westermann F., Berthold F. and Hero B. (2009). Heterogeneity of the MYCN oncogene in neuroblastoma. Clin. Cancer Res. 15, 2085-2090.
33. Vandesompele J., Baudis M., De Preter K., Van Roy N., Ambros P., Bown N., Brinkschmidt C., Christiansen H., Combaret V., Lastowska M., Nicholson J., O'Meara A., Plantaz D., Stallings R., Brichard B., Van den Broecke C., De Bie S., De Paepe A., Laureys G. and Speleman F. (2005). Unequivocal delineation of clinicogenetic subgroups and development of a new model for improved outcome prediction in neuroblastoma. J. Clin. Oncol. 23, 2280-2299. (Pubitemid 46218721)
34. Villamon E., Piqueras M., Mackintosh C., Alonso J., de Alava E., Navarro S. and Noguera R. (2008). Comparison of different techniques for the detection of genetic risk-identifying chromosomal gains and losses in neuroblastoma. Virchows Arch. 453, 47-55.
35. Wan T.S., Ma E.S., Chan G.C. and Chan L.C. (2004). Investigation of MYCN status in neuroblastoma by fluorescence in situ hybridization. Int. J. Mol. Med. 14, 981-987.