Genetics and cytogenetics of multiple myeloma: a workshop report.
Much has been learned regarding the biology and clinical implications of genetic abnormalities in multiple myeloma. Because of recent advances in the field, an International Workshop was held in Paris in february of 2003. This summary describes the consensus recommendations arising from that meeting with special emphasis on novel genetic observations. For instance, it is increasingly clear that translocations involving the immunoglobin heavy-chain locus are important for the pathogenesis of one-half of patients. As a corollary, it also clear that the remaining patients, lacking IgH translocations, have hyperdiploidy as the hallmark of their disease. Several important genetic markers are associated with a shortened survival such as chromosome 13 monosomy, hypodiploidy, and others. The events leading the transformation of the monoclonal gammopathy of undetermined significance (MGUS) to myeloma are still unclear. One of the few differential genetic lesions between myeloma and MGUS is the presence of ras mutations in the latter. Gene expression platforms are capable of detecting many of the genetic aberrations found in the clonal cells of myeloma. Areas in need of further study were identified. The study of the genetic aberrations will likely form the platform for targeted therapy for the disease.
Fonseca
Rafael
R
Division of Hematology, Mayo Clinic, Rochester, Minnesota, USA. fonseca.rafael@mayo.edu
Barlogie
Bart
B
Bataille
Regis
R
Bastard
Christian
C
Bergsagel
P Leif
PL
Chesi
Marta
M
Davies
Faith E
FE
Drach
Johannes
J
Greipp
Philip R
PR
Kirsch
Ilan R
IR
Kuehl
W Michael
WM
Hernandez
Jesus M
JM
Minvielle
Stephane
S
Pilarski
Linda M
LM
Shaughnessy
John D
JD
Stewart
A Keith
AK
Avet-Loiseau
Herve
H
D000782:Aneuploidy; D001856:Bone Marrow Examination; D002869:Chromosome Aberrations; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence; D009101:Multiple Myeloma / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D009367:Neoplasm Staging; D020411:Oligonucleotide Array Sequence Analysis; D014178:Translocation, Genetic
D007143:Immunoglobulin Heavy Chains