Atlas of Genetics and Cytogenetics in Oncology and Haematology
t(6;14)(p21;q32)
| Identity |
 | |
| G-banding - Top: Courtesy Jean Luc Lai; Bottom: Courtesy Melanie Zenger and Claudia Haferlach. | |
| Clinics and Pathology |
| Disease | t(6;14)(p21.1;q32.3) is mainly multiple myeloma / plasma cell leukaemia, but also observed in diffuse large B cell non Hodgkin lymphoma (DLBCL) and marginal zone B cell lymphoma. |
| Phenotype / cell stem origin | mature B-lymphocyte |
| Epidemiology | Approximately 4% of primary MM cases. MGUS? Should be rather frequent in lymphoma but not yet systematically estimated. |
| Cytology | CD138+ dystrophic or not dystrophic plasma cells in MM; CD5+ diffuse large B cell lymphoma and splenic lymphoma with villous lymphocytes in NHL. |
| Prognosis | No prognosis value clearly established. |
| Cytogenetics |
| Cytogenetics Morphological | May be not easy to detect. |
| Cytogenetics Molecular | Translocation detected by FISH with CCND3 and IgH probes; der(14) sometimes in multiple copies; der(6) sometimes lost. |
| Additional anomalies | Complex karyotype in most cases. |
| Genes involved and Proteins |
| Gene Name | CCND3 (cyclin D3) |
| Location | 6p21.1 |
| Note | synonym CGD3 |
| Dna / Rna | 6,88kb, 5 exons, 5¹ - 3¹ telomeric orientation. |
| Protein | 32,5kDA, 292 amino acids; regulates Rb1 phosphorylation and, hence, cell cycle G1/S transition, as a result of interaction with CDK4 and CDK6 protein kinases. |
| Gene Name | IGH |
| Location | 14q32.3 |
| Result of the chromosomal anomaly |
| Description | 6p21.1 breakpoint centromeric to CCND3; 14q32.3 breakpoint in the switch region; leads to proximity between IGHS sequences and CCND3 on der(14). |
| Note | no |
| Oncogenesis | Dysregulation and overexpression of CCND3. |
| External links |
| Other database | t(6;14)(p21;q32) | Mitelman database (CGAP - NCBI) |
| To be noted |
| Bibliography |
| Cyclin D3 is a target gene of t(6;14)(p21.1;q32.3) of mature B-cell malignancies. |
| Sonoki T, Harder L, Horsman DE, Karran L, Taniguchi I, Willis TG, Gesk S, Steinemann D, Zucca E, Schlegelberger B, Solˆ© F, Mungall AJ, Gascoyne RD, Siebert R, Dyer MJ |
| Blood. 2001 ; 98 (9) : 2837-2844. |
| PMID 11675358 |
| Cyclin D3 at 6p21 is dysregulated by recurrent chromosomal translocations to immunoglobulin loci in multiple myeloma. |
| Shaughnessy J Jr, Gabrea A, Qi Y, Brents L, Zhan F, Tian E, Sawyer J, Barlogie B, Bergsagel PL, Kuehl M |
| Blood. 2001 ; 98 (1) : 217-223. |
| PMID 11418483 |
| Cyclin D3 immunoreactivity in follicular lymphoma is independent of the t(6;14)(p21.1;q32.3) translocation or cyclin D3 gene amplification and is correlated with histologic grade and Ki-67 labeling index. |
| Pruneri G, Valentini S, Fabris S, Del Curto B, Laszlo D, Bertolini F, Martinelli G, Leocata P, Viale G, Neri A |
| International journal of cancer. Journal international du cancer. 2004 ; 112 (1) : 71-77. |
| PMID 15305377 |
| Immunoreactivity for cyclin D3 is frequently detectable in high-grade primary gastric lymphomas in the absence of the t(6;14)(p21.1;q32.3) chromosomal translocation. |
| Pruneri G, Fabris S, Fasani R, Del Curto B, Capella C, Pozzi B, Motta T, Andreola S, Ferreri AJ, Ponzoni M, Viale G, Neri A |
| The Journal of pathology. 2003 ; 200 (5) : 596-601. |
| PMID 12898595 |
| Characterization of oncogene dysregulation in multiple myeloma by combined FISH and DNA microarray analyses. |
| Fabris S, Agnelli L, Mattioli M, Baldini L, Ronchetti D, Morabito F, Verdelli D, Nobili L, Intini D, Callea V, Stelitano C, Lombardi L, Neri A |
| Genes, chromosomes & cancer. 2005 ; 42 (2) : 117-127. |
| PMID 15543617 |
| Contributor(s) |
| Written | 05-2005 | Franck Viguié |
| Citation |
| This paper should be referenced as such : |
| Viguié F . t(6;14)(p21;q32). Atlas Genet Cytogenet Oncol Haematol. May 2005 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0614p21q32ID1306.html |
This paper is referenced by INIST as such : |
| http://documents.irevues.inist.fr/bitstream/2042/38221/1/05-2005-t0614p21q32ID1306.pdf [ Bibliographic record ] |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Mar 9 12:37:22 CET 2013 |
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