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del(13q) in multiple myeloma

Written2001-03Franck Viguié
Laboratoire de Cytogenetique - Service d'Hematologie Biologique, Hopital Hotel-Dieu - 75181 Paris Cedex 04, France

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Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9732/3 Plasma cell myeloma / Multiple myeloma
Atlas_Id 2094
 
  del(13q) G- banding - Courtesy Melanie Zenger and Claudia Haferlach.

Clinics and Pathology

Disease Multiple myeloma (MM) is a monoclonal B-cell malignancy, which originates theoretically in lymph node germinal centers but locates and expands in bone marrow. It represents 10% of all the hematopoietic cancers, with a great variability in clinical presentation, response to therapy and survival duration. In more than 1/3 of cases, MM can be preceded by a phase of monoclonal gammopathy of uncertain significance (MGUS). At the extreme it can evolve in plasma blast acute leukemia.
Phenotype / cell stem origin malignant myeloma cells are long-lived cells with morphological features varying from normal to dystrophic considering size of the cells, presence of nucleolar structures and aspect of the chromatin. Immunophenotype includes inconstant expression of CD56, CD38, CD40 and CD138.
Epidemiology del(13q) is detected in 15-20% of MM patients by conventional karyotype and in 33-52% of cases by FISH analysis
Prognosis -13/del(13q) appears as one of the main prognostic factors with ?2-microglobulin serum level and the percentage of bone marrow plasma cells. Patients with del(13q) have a significantly lower event-free survival, overall survival and complete remission duration, either in standard-dose or in high dose therapy protocols.

Cytogenetics

Cytogenetics Morphological
  • del(13q) is a frequent occurrence in chronic lymphoproliferative diseases and in non Hodgkin lymphoma.
  • del(13q) in MM is rarely observed as a sole anomaly; detected both in hyperdiploid and hypodiploid karyotypes, but with a higher incidence in hypodiploi forms; consequently, according to some authors, the prognostic value of del(13q) should have to be related to the ploidy.
  • it is considered as a secondary event, however occurring early in the evolution of MM because it is observed in patients with MGUS.
  • The minimal common region of deletion is in band 13q14.3, the same as in chronic lymphocytic leukemia. Del(13q) is clearly underscored by karyotyping because a number of deletions are submicroscopic or only detected in interphase nuclei. It involves rb-1, and loci D13S319 and D13S272 which are approximately 100kb distal from rb-1.
  • rb-1 deletion / mutation would be a key event in MM evolution; however other gene(s) would be involved at 13q14.3 because rb-1 and D13S319 deletions are dissociated in some cases.
  • Bibliography

    14q32 translocations and monosomy 13 observed in monoclonal gammopathy of undetermined significance delineate a multistep process for the oncogenesis of multiple myeloma. Intergroupe Francophone du Myélome.
    Avet-Loiseau H, Facon T, Daviet A, Godon C, Rapp MJ, Harousseau JL, Grosbois B, Bataille R
    Cancer research. 1999 ; 59 (18) : 4546-4550.
    PMID 10493504
     
    Frequent monoallelic loss of D13S319 in multiple myeloma patients shown by interphase fluorescence in situ hybridization.
    Chang H, Bouman D, Boerkoel CF, Stewart AK, Squire JA
    Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1999 ; 13 (1) : 105-109.
    PMID 10049044
     
    Results of high-dose therapy for 1000 patients with multiple myeloma: durable complete remissions and superior survival in the absence of chromosome 13 abnormalities.
    Desikan R, Barlogie B, Sawyer J, Ayers D, Tricot G, Badros A, Zangari M, Munshi NC, Anaissie E, Spoon D, Siegel D, Jagannath S, Vesole D, Epstein J, Shaughnessy J, Fassas A, Lim S, Roberson P, Crowley J
    Blood. 2000 ; 95 (12) : 4008-4010.
    PMID 10845942
     
    Deletions of chromosome 13q in monoclonal gammopathy of undetermined significance.
    Königsberg R, Ackermann J, Kaufmann H, Zojer N, Urbauer E, Krömer E, Jäger U, Gisslinger H, Schreiber S, Heinz R, Ludwig H, Huber H, Drach J
    Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2000 ; 14 (11) : 1975-1979.
    PMID 11069034
     
    High incidence of chromosome 13 deletion in multiple myeloma detected by multiprobe interphase FISH.
    Shaughnessy J, Tian E, Sawyer J, Bumm K, Landes R, Badros A, Morris C, Tricot G, Epstein J, Barlogie B
    Blood. 2000 ; 96 (4) : 1505-1511.
    PMID 10942398
     
    Deletion of 13q14 remains an independent adverse prognostic variable in multiple myeloma despite its frequent detection by interphase fluorescence in situ hybridization.
    Zojer N, Königsberg R, Ackermann J, Fritz E, Dallinger S, Krömer E, Kaufmann H, Riedl L, Gisslinger H, Schreiber S, Heinz R, Ludwig H, Huber H, Drach J
    Blood. 2000 ; 95 (6) : 1925-1930.
    PMID 10706856
     

    Citation

    This paper should be referenced as such :
    Viguié, F
    del(13q) in multiple myeloma
    Atlas Genet Cytogenet Oncol Haematol. 2001;5(2):123-124.
    Free journal version : [ pdf ]   [ DOI ]
    On line version : http://AtlasGeneticsOncology.org/Anomalies/del13qMMyeloID2094.html


    Translocations implicated (Data extracted from papers in the Atlas)

     del(13q) in multiple myeloma

    External links

    Mitelman databasedel(13q) [Case List]    del(13q) [Association List] Mitelman database (CGAP - NCBI)
    arrayMapTopo ( C42) Morph ( 9732/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
     
     
    Disease databasedel(13q) in multiple myeloma
    REVIEW articlesautomatic search in PubMed
    Last year articlesautomatic search in PubMed
    All articlesautomatic search in PubMed


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