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

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