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
215081242011Indolent mantle cell leukemia: a clinicopathological variant characterized by isolated lymphocytosis, interstitial bone marrow involvement, kappa light chain restriction, and good prognosis.34
103295981999Detection of translocation t(11;14)(q13;q32) in mantle cell lymphoma by fluorescence in situ hybridization.33
229156502012IgH partner breakpoint sequences provide evidence that AID initiates t(11;14) and t(8;14) chromosomal breaks in mantle cell and Burkitt lymphomas.28
237757152013A capture-sequencing strategy identifies IRF8, EBF1, and APRIL as novel IGH fusion partners in B-cell lymphoma.26
98657131998High incidence of translocations t(11;14)(q13;q32) and t(4;14)(p16;q32) in patients with plasma cell malignancies.24
221804802012Automated analysis of multidimensional flow cytometry data improves diagnostic accuracy between mantle cell lymphoma and small lymphocytic lymphoma.18
119725292002Translocations of 14q32 and deletions of 13q14 are common chromosomal abnormalities in systemic amyloidosis.15
162419942005Lymphomatous polyposis of the gastrointestinal tract, including mantle cell lymphoma, follicular lymphoma and mucosa-associated lymphoid tissue lymphoma.14
244522042014Perinucleolar relocalization and nucleolin as crucial events in the transcriptional activation of key genes in mantle cell lymphoma.13
110540682000Diagnostic utility of fluorescence in situ hybridization in mantle-cell lymphoma.12
209605632011Several lymphoma-specific genetic events in parallel can be found in mature B-cell neoplasms.11
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.9
153068232004Variant t(2;11)(p11;q13) associated with the IgK-CCND1 rearrangement is a recurrent translocation in leukemic small-cell B-non-Hodgkin lymphoma.9
177047432007Molecular cytogenetic aberrations in patients with multiple myeloma studied by interphase fluorescence in situ hybridization.8
172513352007Telomeric IGH losses detectable by fluorescence in situ hybridization in chronic lymphocytic leukemia reflect somatic VH recombination events.7
310152062019Characterization of a cryptic IGH/CCND1 rearrangement in a case of mantle cell lymphoma with negative CCND1 FISH studies.6
211202052010Clinical utility of FISH analysis in addition to G-banded karyotype in hematologic malignancies and proposal of a practical approach.6
97390211998Detection of t(11;14) using interphase molecular cytogenetics in mantle cell lymphoma and atypical chronic lymphocytic leukemia.6
235818352013Acquisition of t(11;14) in a patient with chronic lymphocytic leukemia carrying both t(14;19)(q32;q13.1) and +12.5
233076012013Double-hit myeloma with IGH/MYC and IGH/CCND1 translocations.5
191296882008JAK2V617F-positive essential thrombocythemia and multiple myeloma with IGH/CCND1 gene translocation coexist, but originate from separate clones.5
255962562015Cyclin D1-positive diffuse large B-cell lymphoma with IGH-CCND1 translocation and BCL6 rearrangement: a report of two cases.4
216118372012Fluorescence in situ hybridization analysis of chromosome aberrations in 60 Chinese patients with multiple myeloma.4
223281742012Utility of a column-free cell sorting system for separation of plasma cells in multiple myeloma FISH testing in clinical laboratories.4
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.4
183933242008Automated FISH analysis using dual-fusion and break-apart probes on paraffin-embedded tissue sections.4
321505302020Composite Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma and Mantle Cell Lymphoma; Small Cell Variant: A Real Diagnostic Challenge. Case Presentation and Review of Literature.3
280387132017Expression of LEF1 in mantle cell lymphoma.3
274693262016Cyclin D1 expression in peripheral T-cell lymphomas.3
270152312016Burden of cytogenetically abnormal plasma cells in light chain amyloidosis and their prognostic relevance.3
258594112015Clinicopathologic features of 112 cases with mantle cell lymphoma.3
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.3
206337722010Amplification of IGH/CCND1 fusion gene in a primary plasma cell leukemia case.3
129498972003Fluorescence in situ hybridization: method of choice for a definitive diagnosis of mantle cell lymphoma.3
349339392022Epigenomic translocation of H3K4me3 broad domains over oncogenes following hijacking of super-enhancers.2
243055392013[Composite lymphoma cosisting of mantle cell lymphoma and follicular lymphoma].2
212722682011Various patterns of IgH deletion identified by FISH using combined IgH and IgH/CCND1 probes in multiple myeloma and chronic lymphocytic leukemia.2
214303702011Treatment of synchronous mantle cell lymphoma and small lymphocytic lymphoma with bendamustine and rituximab.2
191271042008[Correlation of chromosomal aberrations with prognostic markers in multiple myeloma patients--a single institution study].2
183012402008Simultaneous phenotyping and genotyping (FICTION-methodology) on paraffin sections and cytologic specimens: a comparison of 2 different protocols.2
156083912004De novo CD5 positive diffuse large B-cell lymphomas with bone marrow involvement in Korean.2
358639002022High-resolution simulations of chromatin folding at genomic rearrangements in malignant B cells provide mechanistic insights into proto-oncogene deregulation.1
320358662020MYC amplification on double minute chromosomes in plasma cell leukemia with double IGH/CCND1 fusion genes.1
316317212020Primary Low-Grade B-Cell Lymphoma of Skull With Translocation Between Immunoglobulin and Interferon Regulatory Factor 4 Genes.1
321850612020Anaplastic multiple myeloma resembling dysplastic megakaryocytes.1
298865842018[Clinicopathologic features and prognosis of mantle cell lymphoma: an analysis of 349 cases].1
294159382018[Acquisition of IgH/CCND1 translocation during the natural disease course in a patient with chronic lymphocytic leukemia].1
262616592015Detection of t(12;14)(p13;q32) in a patient with IGH-CCND1 negative mantle cell lymphoma resembling ultra-high risk chronic lymphocytic leukemia.1
232109242012Conjunctival mass as an initial presentation of mantle cell lymphoma: a case report.1
233362282012[Clinicopathologic and cytogenetic features of 114 Chinese mantle cell lymphoma cases].1
200790112009[Application of interphase fluorescence in situ hybridization in the diagnosis of lymphoma].1
182844152009Molecular cytogenetic aberrations in 21 Chinese patients with plasma cell leukemia.1
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.1
348621562021Anaplastic multiple myeloma with amplification of the IGH-CCND1 gene fusion.0
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.0
337271662021CD5-negative blastoid variant mantle cell lymphoma: a diagnostic dilemma.0
334254122020Synchronous Occurrence of Splenic Pleomorphic Mantle Cell Lymphoma and Esophageal Adenocarcinoma with Overexpression of BCL1 Protein.0
333813292020Double-Hit Primary Plasma Cell Leukemia with IGH/MYC and IGH/CCND1 Translocations.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
323860812020Genomic analysis of multiple myeloma using targeted capture sequencing in the Japanese cohort.0
328514552020A methotrexate-associated lymphoproliferative disorder expressing CD10 and BCL6 with the IGH/CCND1 translocation.0
324477822020High-risk cytogenetics in multiple myeloma: Further scrutiny of deletions within the IGH gene region enhances risk stratification.0
322245862020[Sequential development of mantle cell lymphoma following chronic lymphocytic leukemia].0
316950022019[Aggressive B-cell lymphoma with IGH/MYC, IGH/BCL2, and IGH/CCND1 translocations].0
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.0
303177312018[Clinicopathologic features and prognosis of gastrointestinal mantle cell lymphoma].0
302952562018[Detection of the Cytogenetic Aberrations in Multiple Myeloma by Using Microrray Comparative Genomic Hybridization].0
295343522018[Clinicopathologic characteristics and prognositic indicators of tonsillar 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
287812692017Chronic lymphocytic leukemia/small lymphocytic lymphoma with t (2;18) (p12;q21) accompanied by a cutaneous nodule with histological features of diffuse large B-cell lymphoma.0
272411472016[Pathologic characteristics of bone marrow for 
CD5 positive small B cell lymphoma].0
271694552016[Transition to aggressive phase in a multiple myeloma patient with IgH/CCND1 translocation and diffuse osteosclerotic lesions].0
265867112015Childhood de novo CD5+ Diffuse Large B-cell Lymphoma: a Separate Entity?0
231141262012[Evaluation of fluorescence in situ hybridization value in detection of chronic lymphocytic leukemia].0
226788042012[Clinical and experimental study of a multiple myeloma case with low hypodiploidy].0
219159952012Scoring systems in mantle cell lymphoma: a critical point of view.0
211763602010[Comparative study of genetic aberrations in human multiple myeloma cell lines and newly diagnosed MM by fluorescence in situ hybridization].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
181567442006[Comparison of the rate of detection of immunoglobulin heavy chain gene rearrangement by fluoresecence in situ hybridization probes in multiple myeloma.].0
145147912003Insertion of the CCND1 gene into the IgH locus in a case of leukaemic small cell mantle lymphoma with normal chromosomes 11 and 14.0
122372332002Banded chromosomes versus fluorescence in situ hybridization in the diagnosis of mantle cell lymphoma: a lesson from three cases.0
117238172001[Interphase FISH analysis of frozen or fixed tissues for the detection of t(11;14) (q13;q32) in mantle cell lymphoma].0

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

External Links