Written | 2005-05 | Franck Viguié |
Laboratoire de Cytogenetique - Service d'Hematologie Biologique, Hopital Hotel-Dieu - 75181 Paris Cedex 04, France |
Identity |
ICD-Topo | C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS |
ICD-Morpho | 9732/3 Plasma cell myeloma / Multiple myeloma |
Atlas_Id | 1306 |
![]() | |
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 (Immunoglobulin Heavy) |
Location | 14q32.33 |
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. |
To be noted |
Case Report | A case of Chronic Lymphocytic Leukemia (CLL) with a rare chromosome abnormality: t(1;14;6)(q21;q32;p21), a variant of t(6;14)(p21;q32). |
Bibliography |
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 |
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 |
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 |
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 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, Solé F, Mungall AJ, Gascoyne RD, Siebert R, Dyer MJ |
Blood. 2001 ; 98 (9) : 2837-2844. |
PMID 11675358 |
Citation |
This paper should be referenced as such : |
Viguié F |
t(6;14)(p21;q32) |
Atlas Genet Cytogenet Oncol Haematol. 2005;9(3):248-249. |
Free journal version : [ pdf ] [ DOI ] |
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0614p21q32ID1306.html |
Translocations implicated (Data extracted from papers in the Atlas) |
t(6;14)(p21;q32) IGH/CCND3 | |
External links |
REVIEW articles | automatic search in PubMed |
Last year articles | automatic search in PubMed |
All articles | automatic search in PubMed |
© Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Dec 14 18:25:58 CET 2020 |
For comments and suggestions or contributions, please contact us