1q rearrangements in multiple myeloma

1998-03-01   Christophe Brigaudeau 

1.Laboratory of Hematology, University Hospital, 87000 Limoges, France

Clinics and Pathology


multiple myeloma (MM) is a malignant plasma cell proliferation (chronic lymphoproliferative disorder)

Phenotype stem cell origin

phenotype of mature differentiated B-cell, but also with CD56 expression, which origin is not found in normal plasma cell; CD38+, CD40+, CD138+


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


multiple myelomas 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


bone pain; susceptibility to infections; renal failure; neurologic dysfonctions


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 III;
- 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


multiple myeloma can evolve towards plasma cell leukemia


prognosis (highly variable) is according to the staging and other parameters, of which are now the karyotypic findings (see below)

Genes Involved and Proteins

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


Pubmed IDLast YearTitleAuthors
90546681997Cytogenetic 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 et al
91159681997Cytogenetic analysis of 280 patients with multiple myeloma and related disorders: primary breakpoints and clinical correlations.Calasanz MJ et al
75371171995Improved cytogenetics in multiple myeloma: a study of 151 patients including 117 patients at diagnosis.Laï JL et al
94732401998Jumping translocations of chromosome 1q in multiple myeloma: evidence for a mechanism involving decondensation of pericentromeric heterochromatin.Sawyer JR et al
76279331995Cytogenetic findings in 200 patients with multiple myeloma.Sawyer JR et al


Christophe Brigaudeau

1q rearrangements in multiple myeloma

Atlas Genet Cytogenet Oncol Haematol. 1998-03-01

Online version: http://atlasgeneticsoncology.org/haematological/2056/1q-rearrangements-in-multiple-myeloma