del(13q) in multiple myeloma

2001-03-01   Franck Viguié 

Clinics and Pathology


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 stem cell 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.


del(13q) is detected in 15-20% of MM patients by conventional karyotype and in 33-52% of cases by FISH analysis


-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.


Pubmed IDLast YearTitleAuthors
10493504199914q32 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 et al
100490441999Frequent monoallelic loss of D13S319 in multiple myeloma patients shown by interphase fluorescence in situ hybridization.Chang H et al
108459422000Results 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 et al
110690342000Deletions of chromosome 13q in monoclonal gammopathy of undetermined significance.Königsberg R et al
109423982000High incidence of chromosome 13 deletion in multiple myeloma detected by multiprobe interphase FISH.Shaughnessy J et al
107068562000Deletion of 13q14 remains an independent adverse prognostic variable in multiple myeloma despite its frequent detection by interphase fluorescence in situ hybridization.Zojer N et al


Atlas Image
del(13q) G- banding - Courtesy Melanie Zenger and Claudia Haferlach.


Franck Viguié

del(13q) in multiple myeloma

Atlas Genet Cytogenet Oncol Haematol. 2001-03-01

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