Cytogenetics in pediatric medulloblastomas
Keywords:
adolescent, analysis cytogenetics, child, medulloblastoma, neoplasms, pediatricsAbstract
Medulloblastoma is a very frequent type of tumor in childhood and adolescence. lt is preferentially located in the posterior fossa (also known as the infratentorial compartment) and mainly affects the cerebellum. Although some significant progress has been made in the treatment of these patients, many aspects regarding the biological behavior of this tumor are still unclear. Thus, the study of the genetic events involved in these neoplasias can be considered a valuable tool in the understanding of these tumors, since the biological behavior of a tumor is ultimately determined by its genetic alterations. The most commonly observed alteration in MB is an isochromosome 17, but by itself this aberration does not constitute a prognostic factor; it only reflects an unbridled cell proliferation. Severa! genes (as, for example, TP53, ABR and HIC-1), seem to be related to the genesis of these tumors, but further studies are necessary to shed light on this matter. Advances in the field of molecular cytogenetics have allowed for the identification of an increasing number of chromosome markers connected with the genesis of proliferation processes. Thus this review had the purpose of presenting an updated survey of the literature on medulloblastoma.
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References
Packer RJ. Brain tumors in children. Arch Neurol. 1999; 56(4):421-5.
Cohen ME, Duffner PK. Brain tumors in children: principies of diagnosis and treatment. 2nd ed. New York: Raven Press; 1994.
David KM, Casey AT, Hayward RD, Harkness WF, Phipps K, Wade AM. Medulloblastoma: is the 5-year survival rate improving? A review of 80 cases from a single institution. J Neurosurg. 1997; 86(1):13-21.
Evans AE, Jenkin RD, Sposto R, Ortega JA, Wilson CB, Wara W, et ai. The treatment of medulloblastoma. Results of a prospective randomized triai of radiation therapy with and without CCNU, vincristine, and prednisone. J Neurosurg. 1990; 72(4):572-82.
Ris MD, Packer R, Goldwein J, Jones-Wallace D, Boyett JM. lntellectual outcome after reduced-dose radiation
therapy plus adjuvant chemotherapy for medulloblastoma: a Children's Cancer Group study. J Clin Oncol. 2001; 19(15):3470-6.
Taylor RE, Bailey CC, Robinson K, Weston CL, Ellison D, lronside J, et ai. Results of a randomized study of preradiation chemotherapy versus radiotherapy alone for nonmetastatic medulloblastoma: The lnternational Society of Paediatric Oncology/United Kingdom Children's Cancer Study Group PNET-3 Study. J Clin Oncol. 2003; 21(8):1581-91.
Ellison CJ, Kim SD, Hall DB, Torkelson JM. Confinement and processing effects on glass transition temperature and physical aging in ultrathin polymer films: novel fluorescence measurements. Eur Phys J E Soft Matter. 2002; 8(2):155-66.
Gilbertson R. Paediatric embryonic brain tumours. Biological and clinicai relevance of molecular genetic abnormalities. Eur J Cancer. 2002; 38(5):675-85
Gajjar A, Hernan R, Kocak M, Fuller C, Lee Y, McKinnon PJ, et ai. Clinicai, histopathologic, and molecular markers of prognosis: toward a new disease risk stratification system for medulloblastoma. J Clin Oncol. 2004; 22(6):984-93.
Kleihues P, Burger PC, Scheithauer BW. The new WHO classification of brain tumours. Brain Pathol. 1993; 3(3):255-68.
MacDonald TJ, Rood BR, Santi MR, Vezina G, Bingaman K, Cogen PH, et ai. Advances in the diagnosis, molecular genetics, and treatment of pediatric embryonal CNS tumors. Oncologist. 2003; 8(2):174-86.
Rorke LB, Gilles FH, Davis RL, Becker LE. Revision of the World Health Organization classification of brain tumors for childhood brain tumors. Cancer. 1985; 56(7 Suppl) 1869-86.
Becker LE, Rorke LB, Gilles FH, Davis RL. Embryonal Tumors. ln: Kleihues P, Cavenee WK, editors. World Health Organization Classification of Tumors, Pathology and Genetics of Tumors of the Nervous System. Lyon, France: IARC Press; 2000. p.123-48.
Tomlinson FH, Scheithauer BW, Meyer FB, Smithson WA, Shaw EG, Miller GM, et ai. Medulloblastoma: 1. Clinicai, diagnostic, and therapeutic overview. J Child Neurol. 1992; 7(2):142-55.
Kleihues P, Cavenee WK. Pathology and genetics of tumours of the nervous system. 2nd ed. New York: Oxford University Press; 2000.
Heideman RL, Packer RJ, Albright LA, Gajjar AJ, Douglass EC. Tumor of the central nervous system. ln: Pizzo PA, Poplack DG, editors. Principies and practice of pediatric oncology. Philadelphia: Lippincott-Ravem; 1997. p.633-97.
Hanif G, Shafqat S. Morphological pattern and frequency of intracranial tumours in children. J Coll Physicians Surg Pak. 2004; 14(3):150-2.
Kuijten RR, Bunin GR. Risk factors for childhood brain tumors. Cancer Epidemiai Biomarkers Prev. 1993; 2(3):277-88.
Parkin DM, Stiller CA, Draper GJ, Bieber CA. The international incidence of childhood cancer. lnt J Cancer. 1988; 42(5):511-20
Filippini G, Farinotti M, Lovicu G, Maisonneuve P, Boyle P. Mothers· active and passive smoking during pregnancy and risk of brain tumours in children. lnt J Cancer. 1994; 57(6):769-74.
Tischkowitz MD, Chisholm J, Gaze M, Michalski A, Rosser EM. Medulloblastoma as a first presentation of fanconi anemia. J Pediatr Hematol Oncol. 2004; 26(1):52-5.
Martinez-Lage JF, Salcedo C, Corral M, Poza M. Medulloblastomas in neurofibromatosis type 1. Case report and literature review. Neurocirugia (Astur). 2002; 13(2):128-31
Gorlin RJ, Vickers RA, Kellen E, Williamson JJ Multiple basal-cell nevi syndrome. An analysis of a syndrome consisting of multiple nevoid basal-cell carcinoma, jaw cysts, skeletal anomalies, medulloblastoma, and hyporesponsiveness to parathormone. Cancer. 1965; 18:89-104.
Evans G, Burnell L, Campbell R, Gattamaneni HR, Birch J. Congenital anomalies and genetic syndromes in 173 cases of medulloblastoma. Med Pediatr Oncol. 1993; 21(6):433-4.
Shuster J, Hart Z, Stimson CW, Brough AJ, Poulik MD. Ataxia telangiectasia with cerebellar tumor. Pediatrics. 1966; 37(5):776-86.
Mastronardi L, Ferrante L, Lunardi P, Cervoni L, Fortuna A. Association between neuroepithelial tumor and multiple intestinal polyposis (Turcot's syndrome): report of a case and criticai analysis of the literature. Neurosurgery. 1991; 28(3):449-52.
Pappo AS, Shapiro DN, Crist WM, Maurer HM. Biology and therapy of pediatric rhabdomyosarcoma. J Clin Oncol. 1995; 13(8):2123-39
Udayakumar AM, Sundareshan TS, Appaji L, Biswas S, Mukherjee G. Rhabdomyosarcoma: cytogenetics of five cases using fine-needle aspiration samples and review of the literature. Ann Genet. 2002; 45(1):33-7.
DeChiara C, Borghese A, Fiorillo A, Genesio R, Conti A, D'Amore R, et ai. Cytogenetic evaluation of isochromosome 17q in posterior fossa tumors of children and correlation with clinicai outcome in medulloblastoma. Detection of a novel chromosomal abnormality. Childs Nerv Syst. 2002; 18(8):380-4
Gilhuis HJ, Anderl KL, Boerman RH, Jeuken JM, James CD, Raffel C, et ai. Comparative genomic hybridization of medulloblastomas and clinicai relevance: eleven new cases and a review of the literature. Clin Neural Neurosurg. 2000; 102(4):203-9.
Biegel JA, Rorke LB, Packer RJ, Emanuel BS. Monosomy 22 in rhabdoid or atypical tumors of the brain. J Neurosurg. 1990; 73(5):710-4.
Mertens F, Johansson B, Mitelman F. lsochromosomes in neoplasia. Genes Chromosomes Cancer. 1994; 10(4):221-30.
Phelan CM, Liu L, Ruttledge MH, Muntzning K, Ridderheim PA, Collins VP. Chromosome 17 abnormalities and lack of TP53 mutations in paediatric central nervous system tumours. Hum Genet. 1995; 96(6):684-90.
Aldosari N, Rasheed BK, Mclendon RE, Friedman HS, Bigner DO, Bigner SH. Characterization of chromosome 17 abnormalities in medulloblastomas. Acta Neuropathol (Berl). 2000; 99(4):345-51.
Batra SK, Mclendon RE, Koo JS, Castelino-Prabhu S, Fuchs HE, Krischer JP, et ai. Prognostic implications of chromosome 17p deletions in human medulloblastomas. J Neurooncol. 1995; 24(1):39-45.
Cogen PH, McDonald JD. Tumor suppressor genes and medulloblastoma. J Neurooncol. 1996; 29(1):103-12.
Emadian SM, McDonald JD, Gerken se, Fults D. Correlation of chromosome 17p loss with clinicai outcome in medulloblastoma. Clin Cancer Res. 1996; 2(9):1559-64.
Biegel JA, Janss AJ, Raffel C, Sutton L, Rorke LB, Harper JM, et ai. Prognostic significance of chromosome 17p deletions in childhood primitive neuroectodermal tumors (medulloblastomas) of the central nervous system. Clin Cancer Res. 1997; 3(3):473-8
Giordana MT, Migheli A, Pavanelli E. lsochromosome 17q is a constant finding in medulloblastoma. An interphase cytogenetic study on tissue sections. Neuropathol Appl Neurobiol. 1998; 24(3):233-8.
Nam OH, Wang KC, Kim YM, Chi JG, Kim SK, Cho BK. The effect of isochromosome 17q presence, proliferative and apoptotic índices, expression of c-erbB-2, bcl-2 and p53 proteins on the prognosis of medulloblastoma. J Korean Med Sei. 2000; 15(4):452-6.
Adesina AM, Nalbantoglu J, Cavenee WK. p53 gene mutation and mdm2 gene amplification are uncommon in medulloblastoma. Cancer Res. 1994; 54(21):5649-51.
Gilbertson RJ, Pearson AD, Perry RH, Jaros E, Kelly PJ. Prognostic significance of the c-erbB-2 oncogene product in childhood medulloblastoma. Br J Cancer. 1995; 71(3):473-7.
Bigner SH, Friedman HS, Vogelstein B, Oakes WJ, Bigner DD. Amplification of the c-myc gene in human medulloblastoma cell lines and xenografts. Cancer Res. 1990; 50(8):2347-50. Erratum in: Cancer Res. 1990; 50(12):3809.
Callen DF, Cirocco L, Moore L. A der(11)t(8;11) in two medulloblastomas. A possible nonrandom cytogenetic abnormality. Cancer Genet Cytogenet. 1989; 38(2):255-60.
Sainati L, Bolcato S, Montaldi A, Celli P, Stella M, Leszl A, et ai. Cytogenetics of pediatric central nervous system tumors. Cancer Genet Cytogenet. 1996; 91(1):13-27
Bayani J, Zielenska M, Marrano P, Kwan Ng Y, Taylor MD, Jay V, et ai. Molecular cytogenetic analysis of medulloblastomas and supratentorial primitive neuroectodermal tumors by using conventional banding, comparative genomic hybridization, and spectral karyotyping. J Neurosurg. 2000; 93(3):437-48.
Bigner SH, Mark J, Bullard DE, Mahaley MS Jr, Bigner DD. Chromosomal evolution in malignant human gliomas starts with specific and usually numerical deviations. Cancer Genet Cytogenet. 1986; 22(2):121-35
Scheurlen WG, Schwabe GC, Joos S, Mollenhauer J, Sorensen N, Kuhl J. Molecular analysis of childhood primitive neuroectodermal tumors defines markers associated with poor outcome. J Clin Oncol. 1998; 16(7):2478-85.
Vagner-Capodano AM, Mugneret F, Zattara-Cannoni H, Gabert J, Favre B, Figarella-Branger D, et ai. Translocation 1;19 in two brain tumors. Cancer Genet Cytogenet. 1997; 97(1):1-4.
Johansson B, Mertens F, Mitelman F. Primary vs. secondary neoplasia-associated chromosomal abnormalities - balanced rearrangements vs. genomic imbalances? Genes Chromosomes Cancer. 1996; 16(3):155-63.
Sozzi G, Minoletti F, Miozzo M, Sard L, Musso K, Azzarelli A, et ai. Relevance of cytogenetic and fluorescent in situ hybridization analyses in the clinicai assessment of soft tissue sarcoma. Hum Pathol. 1997; 28(2):134-42.
Barril N, Tajara EH. Aspectos moleculares do câncer tiroideano. Arq Sras Endocrinol Metab. 1999; 43(5):313-24.
Mitelman F, Johansson B, Mertens F. Mitelman database of chromosome aberrations in cancer [online catalog] (2000) [cited 2004 Jul 21]. Available from: http:// cgap.nci.nih.gov/Chromosomes/Mitelman
Gray JW, Pinkel D, Brown JM. Fluorescence in situ hybridization in cancer and radiation biology. Radiat Res. 1994; 137(3):275-89.
Jay V, Squire J, Bayani J, Alkhani AM, Rutka JT, Zielenska M. Oncogene amplification in medulloblastoma: analysis of a case by comparative genomic hybridization and fluorescence in situ hybridization. Pathology. 1999; 31(4):337-44.
Biegel JA. Cytogenetics and molecular genetics of childhood brain tumors. Neuro-oncol. 1999; 1(2):139-51.
Wasson JC, Saylors RL 3rd, Zeltzer P, Friedman SH, Burger PC, et ai. Oncogene amplification in pediatric brain tumors. Cancer Res. 1990; 50(10):2987-90
Cogen PH, Daneshvar L, Metzger AK, Duyk G, Edwards MS, Sheffield VC. lnvolvement of multiple chromosome 17p loci in medulloblastoma tumorigenesis. Am J Hum Genet. 1992; 50(3):584-9.
Weber-Hall S, McManus A, Anderson J, Nojima T, Abe S, Pritchard-Jones K, et ai. Novel formation and amplification of the PAX7-FKHR fusion gene in a case of alveolar rhabdomyosarcoma. Genes Chromosomes Cancer. 1996; 17(1):7-13.
Pandita A, Zielenska M, Thorner P, Bayani J, Godbout R, Greenberg M, et ai. Application of comparative genomic hybridization, spectral karyotyping, and microarray analysis in the identification of subtype specific patterns of genomic changes in rhabdomyosarcoma. Neoplasia. 1999; 1(3):262-75.
Sakamoto-Hojo ET. Hibridação in situ fluorescente (FISH): aplicação à mutagênese ambiental. ln: Ribeiro LR, Salvadori DMF, Marques EK, editors. Mutagênese Ambiental. Canoas: ULBRA; 2003. p.225-46.
Schlegel J, Scherthan H, Arens N, Stumm G, Kiessling M. Detection of complex genetic alterations in human glioblastoma multiforme using comparative genomic hybridization. J Neuropathol Exp Neurol. 1996; 55(1):81-7.
Boerman RH, Anderl K, Herath J, Borell T, Johnson N, Schaeffer-Klein J, et ai. The glial and mesenchymal elements of gliosarcomas share similar genetic alterations. J Neuropathol Exp Neural. 1996; 55(9):973-81.
Reardon DA, Michalkiervicz E, Boyett JM, Sublett JE, Entrekin RE, Ragsdale ST, et ai. Extensive genomic abnormalities in childhood medulloblastoma by comparative genomic hybridization. Cancer Res. 1997; 57(18):4042-7.
Avet-Loiseau H, Venuat AM, Terrier-Lacombe MJ, Lellouch-Tubiana A, Zerah M, Vassal G. Comparative genomic hybridization detects many recurrent imbalances in central nervous system primitive neuroectodermal tumours in children. Br J Cancer. 1999; 79(11-12):1843-7.
Yin XL, Pang JC, Ng HK. ldentification of a region of homozygous deletion on 8p22-23.1 in medulloblastoma. Oncogene. 2002; 21(9):1461-8.
Hamann U, Herbold C, Costa S, Solomayer EF, Kaufmann M, Bastert G, et ai. Allelic imbalance on chromosome 13q: evidence for the involvement of BRCA2 and RB1 in sporadic breast cancer. Cancer Res. 1996; 56(9):1988-90.
Eberhart CG, Kratz JE, Schuster A, Goldthwaite P, Cohen KJ, Perlman EJ, et ai. Comparative genomic hybridization detects an increased number of chromosomal alterations in large cell/anaplastic medulloblastoma. Brain Pathol. 2002; 12(1):36-44.
Tong CY, Hui AB, Yin XL, Pang JC, Zhu XL, Poon WS, et ai. Detection of oncogene amplifications in medulloblastomas by comparative genomic hybridization and array-based comparative genomic hybridization. J Neurosurg. 2004; 100(2 Suppl Pediatrics): 187-93.
Giangaspero F, Rigobello L, Badiali M, Loda M, Andreini L, Basso G, et ai. Large-cell medulloblastomas. A distinct variant with highly aggressive behavior. Am J Surg Pathol. 1992; 16(7):687-93.
