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
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 ID | Year | Title | Citations |
|---|---|---|---|
| 38025905 | 2023 | Effective venetoclax-based treatment in relapsed/refractory multiple myeloma patients with translocation t(6;14). | 33 |
| 22075513 | 2011 | Primary Plasma Cell Leukemia Associated with t(6;14)(p21;q32) and IGH Rearrangement: A Case Study and Review of the Literature. | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 15543617 | 2005 | Characterization of oncogene dysregulation in multiple myeloma by combined FISH and DNA microarray analyses. | Fabris S et al |
| 12898595 | 2003 | 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 et al |
| 15305377 | 2004 | 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 et al |
| 11418483 | 2001 | Cyclin D3 at 6p21 is dysregulated by recurrent chromosomal translocations to immunoglobulin loci in multiple myeloma. | Shaughnessy J Jr et al |
| 11675358 | 2001 | Cyclin 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)
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/t(6;14)(p21;q32)-igh-ccnd3
