t(11;14)(q13;q32) IGH/CCND1 in multiple myeloma

1998-01-01   Jean-Luc Lai  , Jean-Loup Huret  

1.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 IDYearTitleCitations
370481022023The TT Genotype of the KIAA1524 rs2278911 Polymorphism Is Associated with Poor Prognosis in Multiple Myeloma.77
349339392022Epigenomic translocation of H3K4me3 broad domains over oncogenes following hijacking of super-enhancers.68
221804802012Automated analysis of multidimensional flow cytometry data improves diagnostic accuracy between mantle cell lymphoma and small lymphocytic lymphoma.56
358639002022High-resolution simulations of chromatin folding at genomic rearrangements in malignant B cells provide mechanistic insights into proto-oncogene deregulation.47
393135002024Large B-cell lymphomas with CCND1 rearrangement have different immunoglobulin gene breakpoints and genomic profile than mantle cell lymphoma.45
380673932023Cytogenetic Profile in Monoclonal Gammopathy of Undetermined Significance, Smoldering and Symptomatic Multiple Myeloma: A Study of 1087 Patients with Highly Purified Plasma Cells.38
389688472024AL amyloidosis manifesting as a vertebral amyloidoma secondary to an unrecognized plasmacytoma expressing cyclin D1 case report.38
237757152013A capture-sequencing strategy identifies IRF8, EBF1, and APRIL as novel IGH fusion partners in B-cell lymphoma.37
380259052023Effective venetoclax-based treatment in relapsed/refractory multiple myeloma patients with translocation t(6;14).33
372061912023A diagnostic approach to detect cytogenetic heterogeneity and its prognostic significance in multiple myeloma.32
254357232014Amplification of 1q21 and other abnormalities in multiple myeloma patients from a tertiary hospital in singapore.32
334254122020Synchronous Occurrence of Splenic Pleomorphic Mantle Cell Lymphoma and Esophageal Adenocarcinoma with Overexpression of BCL1 Protein.31
229156502012IgH partner breakpoint sequences provide evidence that AID initiates t(11;14) and t(8;14) chromosomal breaks in mantle cell and Burkitt lymphomas.30
215081242011Indolent mantle cell leukemia: a clinicopathological variant characterized by isolated lymphocytosis, interstitial bone marrow involvement, kappa light chain restriction, and good prognosis.28
392848972024Comprehensive genetic analysis by targeted sequencing identifies risk factors and predicts patient outcome in Mantle Cell Lymphoma: results from the EU-MCL network trials.27
340746522021Twists and turns from "tumor in tumor" profiling: surveillance of chronic lymphocytic leukemia (CLL) leads to detection of a lung adenocarcinoma, whose genomic characterization alters the original hematologic diagnosis.27
211202052010Clinical utility of FISH analysis in addition to G-banded karyotype in hematologic malignancies and proposal of a practical approach.27
274693262016Cyclin D1 expression in peripheral T-cell lymphomas.26
172513352007Telomeric IGH losses detectable by fluorescence in situ hybridization in chronic lymphocytic leukemia reflect somatic VH recombination events.24
306274602018Blastoid Variant Mantle Cell Lymphoma Expressing Aberrant CD3 and CD10 with Concurrent Small Lymphocytic Lymphoma: Establishment of a Clonal Relationship by B- and T-Cell Receptor Gene Rearrangements.24
103295981999Detection of translocation t(11;14)(q13;q32) in mantle cell lymphoma by fluorescence in situ hybridization.23
348621562023Anaplastic multiple myeloma with amplification of the IGH-CCND1 gene fusion.21
156083912004De novo CD5 positive diffuse large B-cell lymphomas with bone marrow involvement in Korean.21
333813292020Double-Hit Primary Plasma Cell Leukemia with IGH/MYC and IGH/CCND1 Translocations.20
321505302020Composite Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma and Mantle Cell Lymphoma; Small Cell Variant: A Real Diagnostic Challenge. Case Presentation and Review of Literature.20
310152062019Characterization of a cryptic IGH/CCND1 rearrangement in a case of mantle cell lymphoma with negative CCND1 FISH studies.18
262616592015Detection of t(12;14)(p13;q32) in a patient with IGH-CCND1 negative mantle cell lymphoma resembling ultra-high risk chronic lymphocytic leukemia.17
370641102023Case report: Identification of atypical mantle cell lymphoma with CCND3 rearrangement by next-generation sequencing.14
232109242012Conjunctival mass as an initial presentation of mantle cell lymphoma: a case report.14
258594112015Clinicopathologic features of 112 cases with mantle cell lymphoma.11
145147912003Insertion of the CCND1 gene into the IgH locus in a case of leukaemic small cell mantle lymphoma with normal chromosomes 11 and 14.10
396912462024Emergence of IGH::CCND1 rearrangement and mutations in TP53, BTK, and BCL2 associated with therapy resistance in chronic lymphocytic leukemia.8
321850612020Anaplastic multiple myeloma resembling dysplastic megakaryocytes.2
395716912024Cyclin D1-negative mantle cell lymphoma.0
316950022019[Aggressive B-cell lymphoma with IGH/MYC, IGH/BCL2, and IGH/CCND1 translocations].0
212722682011Various patterns of IgH deletion identified by FISH using combined IgH and IgH/CCND1 probes in multiple myeloma and chronic lymphocytic leukemia.0
372498002023Utility of Measurable Residual Disease (MRD) Assessment in Mantle Cell Lymphoma.0
380710512023[Comprehensive Diagnosis of Mantle Cell Lymphoma].0
233076012013Double-hit myeloma with IGH/MYC and IGH/CCND1 translocations.0
280387132017Expression of LEF1 in mantle cell lymphoma.0
383019622024Optical genomic mapping is a helpful tool for detecting CCND1 rearrangements in CD5-negative small B-cell lymphoma: Two cases of leukemic non-nodal mantle cell lymphoma.0
326395872020Primary large B-cell lymphoma of the central nervous system with cyclin D1 expression and t(11;14) (IGH-CCND1): Diffuse large B-cell lymphoma with CCND1 rearrangement or mantle cell lymphoma?0
394247252025MRD Detection in B-Cell Non-Hodgkin Lymphomas Using Ig Gene Rearrangements and Chromosomal Translocations as Targets for Real-Time Quantitative PCR and ddPCR.0
174985612007Simultaneous translocations of FGFR3/MMSET and CCND1 into two different IGH alleles in multiple myeloma: lack of concurrent activation of both proto-oncogenes.0
323860812020Genomic analysis of multiple myeloma using targeted capture sequencing in the Japanese cohort.0
255962562015Cyclin D1-positive diffuse large B-cell lymphoma with IGH-CCND1 translocation and BCL6 rearrangement: a report of two cases.0
328514552020A methotrexate-associated lymphoproliferative disorder expressing CD10 and BCL6 with the IGH/CCND1 translocation.0
376587752024Superior detection rate of plasma cell FISH using FACS-FISH.0
265867112015Childhood de novo CD5+ Diffuse Large B-cell Lymphoma: a Separate Entity?0
234602682013Differential nuclear organization of translocation-prone genes in nonmalignant B cells from patients with t(14;16) as compared with t(4;14) or t(11;14) myeloma.0
240605912013Cyclin D1 (CCND1) messenger RNA expression as assessed by real-time PCR contributes to diagnosis and follow-up control in patients with mantle cell lymphoma.0
110540682000Diagnostic utility of fluorescence in situ hybridization in mantle-cell lymphoma.0
206337722010Amplification of IGH/CCND1 fusion gene in a primary plasma cell leukemia case.0
320358662020MYC amplification on double minute chromosomes in plasma cell leukemia with double IGH/CCND1 fusion genes.0
294159382018[Acquisition of IgH/CCND1 translocation during the natural disease course in a patient with chronic lymphocytic leukemia].0
337271662021CD5-negative blastoid variant mantle cell lymphoma: a diagnostic dilemma.0
244522042014Perinucleolar relocalization and nucleolin as crucial events in the transcriptional activation of key genes in mantle cell lymphoma.0
270152312016Burden of cytogenetically abnormal plasma cells in light chain amyloidosis and their prognostic relevance.0
97390211998Detection of t(11;14) using interphase molecular cytogenetics in mantle cell lymphoma and atypical chronic lymphocytic leukemia.0
119725292002Translocations of 14q32 and deletions of 13q14 are common chromosomal abnormalities in systemic amyloidosis.0
394320922024Cyclin-D1 rearrangement as a secondary event in the large cell transformation of splenic marginal zone lymphoma with a TP53 deletion.0
324477822020High-risk cytogenetics in multiple myeloma: Further scrutiny of deletions within the IGH gene region enhances risk stratification.0
162419942005Lymphomatous polyposis of the gastrointestinal tract, including mantle cell lymphoma, follicular lymphoma and mucosa-associated lymphoid tissue lymphoma.0
271694552016[Transition to aggressive phase in a multiple myeloma patient with IgH/CCND1 translocation and diffuse osteosclerotic lesions].0
209605632011Several lymphoma-specific genetic events in parallel can be found in mature B-cell neoplasms.0
183933242008Automated FISH analysis using dual-fusion and break-apart probes on paraffin-embedded tissue sections.0
366570192023Identification of long noncoding RNA NEAT1 as a key gene involved in the extramedullary disease of multiple myeloma by bioinformatics analysis.0
233362282012[Clinicopathologic and cytogenetic features of 114 Chinese mantle cell lymphoma cases].0
272411472016[Pathologic characteristics of bone marrow for 
CD5 positive small B cell lymphoma].0
295343522018[Clinicopathologic characteristics and prognositic indicators of tonsillar mantle cell lymphoma].0
177047432007Molecular cytogenetic aberrations in patients with multiple myeloma studied by interphase fluorescence in situ hybridization.0
98657131998High incidence of translocations t(11;14)(q13;q32) and t(4;14)(p16;q32) in patients with plasma cell malignancies.0
219159952012Scoring systems in mantle cell lymphoma: a critical point of view.0
223281742012Utility of a column-free cell sorting system for separation of plasma cells in multiple myeloma FISH testing in clinical laboratories.0
235818352013Acquisition of t(11;14) in a patient with chronic lymphocytic leukemia carrying both t(14;19)(q32;q13.1) and +12.0
191296882008JAK2V617F-positive essential thrombocythemia and multiple myeloma with IGH/CCND1 gene translocation coexist, but originate from separate clones.0
394173392024The clinical utility of plasma circulating tumor DNA in the diagnosis and disease surveillance in non-diffuse large B-cell non-Hodgkin lymphomas.0
153068232004Variant t(2;11)(p11;q13) associated with the IgK-CCND1 rearrangement is a recurrent translocation in leukemic small-cell B-non-Hodgkin lymphoma.0
216118372012Fluorescence in situ hybridization analysis of chromosome aberrations in 60 Chinese patients with multiple myeloma.0
385220752024High-grade B-cell lymphoma with a quadruple-hit genetic profile including concurrent MYC, BCL2, BCL6, and CCND1 gene rearrangements.0
183012402008Simultaneous phenotyping and genotyping (FICTION-methodology) on paraffin sections and cytologic specimens: a comparison of 2 different protocols.0
397866152025SQSTM1/p62 predicts prognosis and upregulates the transcription of CCND1 to promote proliferation in mantle cell lymphoma.0
280329142017Pleomorphic mantle cell lymphoma morphologically mimicking diffuse large B cell lymphoma: common cyclin D1 negativity and a simple immunohistochemical algorithm to avoid the diagnostic pitfall.0
322245862020[Sequential development of mantle cell lymphoma following chronic lymphocytic leukemia].0
129498972003Fluorescence in situ hybridization: method of choice for a definitive diagnosis of mantle cell lymphoma.0
286416402017[Application of CD138 Immunomagnetic Sorting Myeloma Cells Combined with Fluorescence in Situ Hybridization for Detecting Cytogenetic Abnormalities of Multiple Myeloma].0
302952562018[Detection of the Cytogenetic Aberrations in Multiple Myeloma by Using Microrray Comparative Genomic Hybridization].0
172130262007Derivative (14)t(11;14)(q13;q32)t(11;14)(p11.2;p11.2): a novel unbalanced variant of the t(11;14)(q13;q32) translocation in mantle cell lymphoma.0
298865842018[Clinicopathologic features and prognosis of mantle cell lymphoma: an analysis of 349 cases].0
211562292010Correlation of cytomorphology, immunophenotyping, and interphase fluorescence in situ hybridization in 381 patients with monoclonal gammopathy of undetermined significance and 301 patients with plasma cell myeloma.0
122372332002Banded chromosomes versus fluorescence in situ hybridization in the diagnosis of mantle cell lymphoma: a lesson from three cases.0
231141262012[Evaluation of fluorescence in situ hybridization value in detection of chronic lymphocytic leukemia].0
182844152009Molecular cytogenetic aberrations in 21 Chinese patients with plasma cell leukemia.0
243055392013[Composite lymphoma cosisting of mantle cell lymphoma and follicular lymphoma].0
303177312018[Clinicopathologic features and prognosis of gastrointestinal mantle cell lymphoma].0
316317212020Primary Low-Grade B-Cell Lymphoma of Skull With Translocation Between Immunoglobulin and Interferon Regulatory Factor 4 Genes.0
226788042012[Clinical and experimental study of a multiple myeloma case with low hypodiploidy].0
305221722018[Diagnostic and therapeutic values of interphase fluorescence in situ hybridization in B-cell lymphomas: a clinicopathologic analysis of 604 cases].0
191271042008[Correlation of chromosomal aberrations with prognostic markers in multiple myeloma patients--a single institution study].0
214303702011Treatment of synchronous mantle cell lymphoma and small lymphocytic lymphoma with bendamustine and rituximab.0

Article Bibliography

Pubmed IDLast YearTitleAuthors
90812011997Cytogenetics and molecular genetics in multiple myeloma.Feinman R et al
96668071998Cytogenetics 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)
Atlas Image
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;14)(q13;q32)-igh-ccnd1-in-multiple-myeloma