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1q rearrangements in multiple myeloma

Clinics and Pathology

Disease multiple myeloma (MM) is a malignant plasma cell proliferation (chronic lymphoproliferative disorder)
Phenotype / cell stem origin phenotype of mature differentiated B-cell, but also with CD56 expression, which origin is not found in normal plasma cell; CD38+, CD40+, CD138+
Etiology differents factors like cytotoxic drugs, ionizing radiation or oncogenic viruses are suspected to induce decondensation of pericentric heterochromatin, which, in turn, favours the formation of triradials, giving rise to 1q extra copies; such could be the case during evolution of multiple myeloma
Epidemiology multiple myeloma's annual incidence: 30/106; mean age: 62 yrs; rearrangements of chromosome 1q are one of the most frequent sructural abnormalitie in MM (16-26% of abnormal cases), but always as a secondary change
Clinics bone pain; susceptibility to infections; renal failure; neurologic dysfonctions
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; low Hb and/or high serum calcium and/or advanced lytic bone lesions and/or high monoclonal Ig rate
Evolution multiple myeloma can evolve towards plasma cell leukemia
Prognosis prognosis (highly variable) is according to the staging and other parameters, of which are now the karyotypic findings (see below)

Cytogenetics

Cytogenetics Morphological
  • duplication of all or part of 1q chromosome and whole arm translocation of 1q can result from unbalanced derivative translocation chromosomes, isochromosomes, or jumping translocations; these structural rearrangements are reported as secondary aberrations and associated with tumor progression and advanced disease
  • 1q has been found translocated with telomeres from differents chromosomes partners: 8pter, 9pter, 12qter, 13pter, 15pter, 17qter, 19pter, 19qter, 21pter, 22pter; whole-arm centromere to centromere translocations occurred most frequently between 16p and 1q; the observation that extra copies of 1q occur in patients with decondensation of centromeric heterochromatin suggests that hypomethylation of this region may play a role in the somatic pairing, fragility and formation of triradial configurations involving the long arm of chromosome 1
  • Genes involved and Proteins

    Note the observation of extra copies of 1q suggests a (low-level) gene amplification of genes related to MM biology: the interleukin 6 (IL-6) signaling pathway may possibly be affected by the amplification of the 1q21 region, which is the site of IL-6RA; other genes of interest in this region include C-reactive protein (CRP) and amyloid P component (APCS), both localized to 1q21-23, and pre-B cell leukemia transcription factor 1 (PBX1) in 1q23

    Translocations implicated (Data extracted from papers in the Atlas)

     1q rearrangements in multiple myeloma

    Bibliography

    Improved cytogenetics in multiple myeloma: a study of 151 patients including 117 patients at diagnosis.
    LaˆØ JL, Zandecki M, Mary JY, Bernardi F, Izydorczyk V, Flactif M, Morel P, Jouet JP, Bauters F, Facon T
    Blood. 1995 ; 85 (9) : 2490-2497.
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    Cytogenetic findings in 200 patients with multiple myeloma.
    Sawyer JR, Waldron JA, Jagannath S, Barlogie B
    Cancer genetics and cytogenetics. 1995 ; 82 (1) : 41-49.
    PMID 7627933
     
    Cytogenetic analysis of 280 patients with multiple myeloma and related disorders: primary breakpoints and clinical correlations.
    Calasanz MJ, Cigudosa JC, Odero MD, Ferreira C, Ardanaz MT, Fraile A, Carrasco JL, Solˆ© F, Cuesta B, Gullˆ„n A
    Genes, chromosomes & cancer. 1997 ; 18 (2) : 84-93.
    PMID 9115968
     
    Cytogenetic study of 30 patients with multiple myeloma: comparison of 3 and 6 day bone marrow cultures stimulated or not with cytokines by using a miniaturized karyotypic method.
    Brigaudeau C, Trimoreau F, Gachard N, Rouzier E, Jaccard A, Bordessoule D, Praloran V
    British journal of haematology. 1997 ; 96 (3) : 594-600.
    PMID 9054668
     
    Jumping translocations of chromosome 1q in multiple myeloma: evidence for a mechanism involving decondensation of pericentromeric heterochromatin.
    Sawyer JR, Tricot G, Mattox S, Jagannath S, Barlogie B
    Blood. 1998 ; 91 (5) : 1732-1741.
    PMID 9473240
     
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    Contributor(s)

    Written03-1998Christophe Brigaudeau

    Citation

    This paper should be referenced as such :
    Brigaudeau, C
    1q rearrangements in multiple myeloma
    Atlas Genet Cytogenet Oncol Haematol. 1998;2(3):86-87.
    Free online version   Free pdf version   [Bibliographic record ]
    URL : http://AtlasGeneticsOncology.org/Anomalies/1qMM2056.html

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    indexed on : Sat Jul 26 14:16:37 CEST 2014


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