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

2005-05-01   Franck Viguié  

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 stem cell 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 description
6,88kb, 5 exons, 5¹ - 3¹ telomeric orientation.
Protein description
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.

Highly cited references

Pubmed IDYearTitleCitations
183910762008Translocations targeting CCND2, CCND3, and MYCN do occur in t(11;14)-negative mantle cell lymphomas.27
220755132011Primary Plasma Cell Leukemia Associated with t(6;14)(p21;q32) and IGH Rearrangement: A Case Study and Review of the Literature.2

Article Bibliography

Pubmed IDLast YearTitleAuthors
155436172005Characterization of oncogene dysregulation in multiple myeloma by combined FISH and DNA microarray analyses.Fabris S et al
128985952003Immunoreactivity 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 et al
153053772004Cyclin 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 et al
114184832001Cyclin D3 at 6p21 is dysregulated by recurrent chromosomal translocations to immunoglobulin loci in multiple myeloma.Shaughnessy J Jr et al
116753582001Cyclin D3 is a target gene of t(6;14)(p21.1;q32.3) of mature B-cell malignancies.Sonoki T et al

Summary

Fusion gene

IGH/CCND3 IGH (14q32.33) CCND3 (6p21.1) M t(11;14)(q13;q32) t(14;16)(q32;q23) t(14;20)(q32;q12) t(4;14)(p16;q32) t(6;14)(p21;q32)
Atlas Image
G-banding - Top: Courtesy Jean Luc Lai; Bottom: Courtesy Melanie Zenger and Claudia Haferlach.

Citation

Franck Viguié

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

Atlas Genet Cytogenet Oncol Haematol. 2005-05-01

Online version: http://atlasgeneticsoncology.org/haematological/1306/css/gene-explorer/js/lib/bootstrap.min.js