Abstract
Ependymomas are glial tumours representing approximately 5–10% of all intracranial tumours and are the third most common primary brain tumour in childhood. Only a few karyotypic studies on paediatric ependymomas have been published and no specific chromosomal aberration has been specifically related to this type of cancer. We performed cytogenetic analysis of an ependymoma in an 11-year-old boy. Our patient showed a complex karyotype, characterized by a near-tetraploidy and a sole structural unbalanced aberration: der(2)t(2;11)(q11.2;q13.1), which has not been described before. We here discuss such cytogenetic findings, comparing our data with those reported in the literature.
References
Horn B, Heideman R, Geyer R, Pollack I, Packer R, Goldwein J, Tomita T, Schomberg P, Ater J, Luchtman-Jones L, Rivlin K, Lamborn K, Prados M, Bollen A, Berger M, Dahl G, McNeil E, Patterson K, Shaw D, Kubalik M, Russo C (1999) A multi-institutional retrospective study of intracranial ependymoma in children: identification of risk factors. J Pediatr Hematol Oncol 21:203–211
Pollack IF, Gerszten PC, Martinez AJ, Lo KH, Janosky J, Albright AL (1995) Intracranial ependymomas of childhood: long-term outcome and prognostic factors. Neurosurgery 37:655–666
Bouffet E, Perilongo G, Canete A, Massimino M (1998) Intracranial ependymomas in children: a critical review of prognostic factors and a plea for cooperation. Med Pediatr Oncol 30(6):319–331
Wiestler OD, Schiffer D, Coons SW, Prayson RA, Rosenblum MK (2000) Ependymal tumours. In: Kleihues P, Cavenee WC (eds) World Health Organization classification of tumours. Pathology and genetics. Tumours of the nervous system. pp 71–81
Packer RJ (2005) New insights into childhood ependymomas. Curr Neurol Neurosci Rep 5(2):107–109
Vagner-Capodano AM, Zattara-Cannoni H, Gambarelli D, Figarella-Branger D, Lena G, Dufour H, Grisoli F, Choux M (1999) Cytogenetic study of 33 ependymomas. Cancer Genet Cytogenet 115(2):96–99
Neumann E, Kalousek DK, Norman MG, Steinbok P, Cochrane DD, Goddard K (1993) Cytogenetic analysis of 109 pediatric central nervous system tumors. Cancer Genet Cytogenet 71(1):40–49
Lamszus K, Lachenmayer L, Heinemann U, Kluwe L, Finckh U, Höppner W, Stavrou D, Fillbrandt R, Westphal M (2001) Molecular genetic alterations on chromosomes 11 and 22 in ependymomas. Int J Cancer 15;91(6):803–808
Dal Cin P, Sandberg AA (1988) Cytogenetic findings in a supratentorial ependymoma. Cancer Genet Cytogenet 30(2):289–293
Jenkins RB, Kimmel DW, Moertel CA, Schultz CG, Scheithauer BW, Kelly PJ, Dewald GW (1989) A cytogenetic study of 53 human gliomas. Cancer Genet Cytogenet 39(2):253–279
Sainati L, Montaldi A, Putti MC, Giangaspero F, Rigobello L, Stella M, Zanesco L, Basso G (1992) Cytogenetic t(11;17)(q13;q21) in a pediatric ependymoma. Is 11q13 a recurring breakpoint in ependymomas? Cancer Genet Cytogenet 59(2):213–216
Thangavelu M, Turina J, Tomita T, Chou PM (1998) Clonal cytogenetic abnormalities in pediatric brain tumors: cytogenetic analysis and clinical correlation. Pediatr Neurosurg 28(1):15–20
Urioste M, Martínez-Ramírez A, Cigudosa JC, Colmenero I, Madero L, Robledo M, Martínez-Delgado B, Benítez J (2002) Complex cytogenetic abnormalities including telomeric associations and MEN1 mutation in a pediatric ependymoma. Cancer Genet Cytogenet 138(2):107–110
Mitelman F, Johansson B, Mertens F (eds) (2008) Mitelman database of chromosome aberrations in cancer. http://cgap.nci.nih.gov.proxy-medicina.unito.it/Chromosomes/Mitelman
Rey JA, Bello MJ, de Campos JM, Kusak ME, Moreno S (1987) Chromosomal composition of a series of 22 human low-grade gliomas. Cancer Genet Cytogenet 29(2):223–237
Vagner-Capodano AM, Gentet JC, Gambarelli D, Pellissier JF, Gouzien M, Lena G, Genitori L, Choux M, Raybaud C (1992) Cytogenetic studies in 45 pediatric brain tumors. Pediatr Hematol Oncol 9(3):223–235
Sainati L, Bolcato S, Montaldi A, Celli P, Stella M, Leszl A, Silvestro L, Perilongo G, Cordero di Montezemolo L, Basso G (1996) Cytogenetics of pediatric central nervous system tumors. Cancer Genet Cytogenet 91(1):13–27
Weremowicz S, Kupsky WJ, Morton CC, Fletcher JA (1992) Cytogenetic evidence for a chromosome 22 tumor suppressor gene in ependymoma. Cancer Genet Cytogenet 61(2):193–196
Xiao Z, Liu S, Liu X, Yu M, Hao Y (2005) Tetraploidy or near-tetraploidy clones with double 8;21 translocation: a non-random additional anomaly of acute myeloid leukemia with t(8;21)(q22;q22). Haematologica 90(3):413–414
Acknowledgments
We would like to thank the patient’s parents, who gave consent to perform this research and to clinicians for providing patient’s samples. This work was partially supported by the Lucent Foundation, the Associazione Italiana Ricerca sul Cancro (Italian Cancer Research Association), and the Ricerca Sanitaria Finalizzata Regione Piemonte (grant for health research projects financed by Regione Piemonte, Italy).
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Aschero, S., Vallero, S., Morra, I. et al. A complex karyotype including a t(2;11) in a paediatric ependymoma: case report and review of the literature. J Neurooncol 99, 141–146 (2010). https://doi.org/10.1007/s11060-009-0108-x
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s11060-009-0108-x