t(11;14)(q13;q32) IGH/CCND1 in multiple myeloma
1998-01-01 Jean-Luc Lai , Jean-Loup Huret Affiliation1.INSERM Unité 524, Institut de Recherche sur le Cancer de Lille, Lille, France
2.INSERM Unité 524, Institut de Recherche sur le Cancer de Lille, Lille, France
Clinics and Pathology
Disease
multiple myeloma (MM) is a malignant plasma cellproliferation
Phenotype stem cell origin
phenotype of mature differenciated B-cell, butalso with CD56 expression, which is not found in normal plasma cells
Epidemiology
multiple myelomas annual incidence: 30/106; mean age: 62 yrs;t(11;14) is found in 10-20% of cases of MM with an abnormal karyotype;t(11;14) is not found associated with particular sex or age group; foundmostly in stage III MM
Clinics
bone pain; susceptibility to infections; renal failure; neurologicdysfunctions
Pathology
MM staging: stage I: low tumour cell mass; normal Hb;low serum calcium; no bone lesion; low monoclonal Ig rate; stage II:fitting neither stage I nor stage II; stage III: high tumour cell mass; lowHb and/or high serum calcium and/or advanced lytic bone lesions and/or highmonoclonal Ig rate
Prognosis
evolution: multiple myeloma can evolve towards plasma cell leukemia; prognosis (highly variable) is according to thestaging and other parameters, of which are now the karyotypic findings
Cytogenetics
Cytogenetics morphological
t(11;14) is balanced in most cases; some casesare: -14, +der(14)t(11;14); t(11;14) may well be a secondary event in MM,lsas it has been found occurring during course of the disease
Cytogenetics molecular
FISH is indicated, as metaphases are arduous toobtain in such a disease implicating mature cells
Additional anomalies
t(11;14) is part of a complex karyotype; accompaniedwith -13 or del(13q) in only 1/4 of cases while -13/del(13q) is found inabout 40% of MM cases with an abnormal karyotype; structural (and variable)anomalies of chromosome 1 are found in 1/3 of cases with t(11;14)
Variants
complex three way translocations t(11;Var;14) have been described
Genes Involved and Proteins
Gene name
CCND1 (B-cell leukemia/lymphoma 1)
Location
11q13.3
Gene name
IGH (Immunoglobulin Heavy)
Location
14q32.33
Highly cited references
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37048102 | 2023 | The TT Genotype of the KIAA1524 rs2278911 Polymorphism Is Associated with Poor Prognosis in Multiple Myeloma. | 77 |
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| 38968847 | 2024 | AL amyloidosis manifesting as a vertebral amyloidoma secondary to an unrecognized plasmacytoma expressing cyclin D1 case report. | 38 |
| 23775715 | 2013 | A capture-sequencing strategy identifies IRF8, EBF1, and APRIL as novel IGH fusion partners in B-cell lymphoma. | 37 |
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| 25435723 | 2014 | Amplification of 1q21 and other abnormalities in multiple myeloma patients from a tertiary hospital in singapore. | 32 |
| 33425412 | 2020 | Synchronous Occurrence of Splenic Pleomorphic Mantle Cell Lymphoma and Esophageal Adenocarcinoma with Overexpression of BCL1 Protein. | 31 |
| 22915650 | 2012 | IgH partner breakpoint sequences provide evidence that AID initiates t(11;14) and t(8;14) chromosomal breaks in mantle cell and Burkitt lymphomas. | 30 |
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| 32851455 | 2020 | A methotrexate-associated lymphoproliferative disorder expressing CD10 and BCL6 with the IGH/CCND1 translocation. | 0 |
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| 19129688 | 2008 | JAK2V617F-positive essential thrombocythemia and multiple myeloma with IGH/CCND1 gene translocation coexist, but originate from separate clones. | 0 |
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Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 9081201 | 1997 | Cytogenetics and molecular genetics in multiple myeloma. | Feinman R et al |
| 9666807 | 1998 | Cytogenetics in multiple myeloma: a multicenter study of 24 patients with t(11;14)(q13;q32) or its variant. | Laï JL et al |
Summary
Fusion gene
IGH/CCND1 IGH (14q32.33) CCND1 (11q13.3) M ins(14;11)(q32;q13q13) t(11;14)(q13;q32) t(11;19;14)(q13;q13;q32) t(14;16)(q32;q23) t(14;20)(q32;q12) t(1;11;14)(q32;q13;q32) t(3;14;11)(q21;q32;q13) t(4;14)(p16;q32) t(6;14)(p21;q32)
t(11;14)(q13;q32) IGH/CCND1 Top: Fluorescence in situ hybridization (FISH) with Vysis LSI Cyclin D1 SpectrumOrange/IGH SpectrumGreen probe (Abbott Molecular, US) showing hybridization on normal metaphase, on metaphase with t(11;14)(q13;q32) (A) and on metaphases with +der(14)t(11;14) (B) and +der(11)t(11;14) (C). Partial karyotypes with t(11;14)(q13;q32) (D) - Courtesy Adriana Zamecnikova; Bottom:t(11;14)(q13;q32) with CCND1/IgH rerrangement R- banding and FISH - Courtesy Hossein Mossafa.
Citation
Jean-Luc Lai ; Jean-Loup Huret
t(11;14)(q13;q32) IGH/CCND1 in multiple myeloma
Atlas Genet Cytogenet Oncol Haematol. 1998-01-01
Online version: http://atlasgeneticsoncology.org/haematological/2054/t(11
