1q rearrangements in multiple myeloma

1998-03-01   Christophe Brigaudeau 

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

Clinics and Pathology

Disease

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+

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 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

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 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

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)

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

Bibliography

Pubmed IDLast YearTitleAuthors

Citation

Christophe Brigaudeau

1q rearrangements in multiple myeloma

Atlas Genet Cytogenet Oncol Haematol. 1998-03-01

Online version: http://atlasgeneticsoncology.org/haematological/2056/tumors-explorer/