Gruszka-Westwood, A. M., Atkinson, S., Summersgill, B. M., Shipley, J., Elnenaei, M. O., Jain, P., Hamoudi, R. A., Kaeda, J. S., Wotherspoon, A. C., Matutes, E., Catovsky, D. (2002) Unusual case of leukemic mantle cell lymphoma with amplified CCNDI/IGH fusion gene. GENES CHROMOSOMES & CANCER, 33 (2). pp. 206-212. ISSN 1045-2257

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Abstract

Unusual case of leukemic mantle cell lymphoma with amplified CCNDI/IGH fusion gene. We describe a case of leukemic mantle cell lymphoma (MCL) with complex karyotype and amplification of the CCND1/IGH fusion gene. Testing for the presence of t(11;14), the hallmark of MCL, revealed multiple copies of the fusion signals. We therefore conducted extensive molecular cytogenetic studies to delineate the nature and consequences of such an abnormality. We localized the amplification to the der(14)t(11;14) and to a der(2) chromosome in a form of interspersed chromosome 11 and 14 material. This resulted in high expression of cyclin D1 mRNA and the protein expressed independently of the cell cycle phase. CGH analysis revealed that the overrepresentation on chromosome 11 included chromosomal band 11q23 in addition to the CCND1 locus at 11q13. The band 11q23 harbors the ataxia telangiectasia mutated (ATM) gene recently proposed to be involved in the pathogenesis of MCL with high incidence of deletions in this locus. Using YAC 801e11, containing the ATM gene, we demonstrated several hybridization signals, suggesting that this region also formed part of the amplicon. This case also showed TP53 gene abnormalities: protein expression, monoallelic deletion, and a mutation in exon 5. The clinical course was aggressive, and the patient died within 6 months of presentation. This is to our knowledge the first description of amplification of the CCND1/IGH fusion gene in a human neoplasm, which may have played a role in the fulminating course of the disease in this patient. (C) 2002 Wiley-Liss, Inc.

Item Type:	Article
Authors (ICR Faculty only):	Shipley, Janet and Matutes, Estella and Hamoudi, Rifat and Catovsky, Daniel
All Authors:	Gruszka-Westwood, A. M., Atkinson, S., Summersgill, B. M., Shipley, J., Elnenaei, M. O., Jain, P., Hamoudi, R. A., Kaeda, J. S., Wotherspoon, A. C., Matutes, E., Catovsky, D.
Uncontrolled Keywords:	Cyclin d1 bcl-1; dermatofibrosarcoma protuberans; alveolar rhabdomyosarcoma; atm gene; amplification; overexpression; chromosomes; tumors; translocation; oscillates
Research teams:	Closed research groups > Cell Markers ICR divisions > Cancer Therapeutics > Sarcoma Molecular Pathology ICR divisions > Molecular Pathology > Sarcoma Molecular Pathology Clinical Units > Haemato-Oncology Unit
Depositing User:	EPrints Services
Date Deposited:	10 Aug 2007 20:40
Last Modified:	02 Apr 2015 15:19
URI:	http://publications.icr.ac.uk/id/eprint/1005

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