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t(6;14)(p21;q32) IGH/CCND3

Written2005-05Franck Viguié
Laboratoire de Cytogenetique - Service d'Hematologie Biologique, Hopital Hotel-Dieu - 75181 Paris Cedex 04, France

(Note : for Links provided by Atlas : click)

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
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

Hybrid gene
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).
  
Fusion Protein
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

IGH (14q32.33) CCND3 (6p21.1)

Mitelman databaset(6;14)(p21;q32) [Case List]    t(6;14)(p21;q32) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9732/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
Mitelman databaseIGH/CCND3 [MCList]  IGH (14q32.33) CCND3 (6p21.1)
 
Disease databaset(6;14)(p21;q32) IGH/CCND3
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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