del(6q) in Multiple Myeloma

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del(6q) in Multiple Myeloma

Clinics and Pathology

Disease multiple myeloma (MM) is a malignant plasma cell proliferation

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

Epidemiology MM' s annual incidence is 30/10⁶; del(6q) is observed in about 2 to 5 % of MM cases (i.e. : 5-10 % of cases with an abnormal karyotype).

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 II;
- 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 MM 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 : two distinct cytogenetic pattern have been reported, according to the chromosome number : 1- a hyperdiploid pattern, and 2- a pattern of either pseudodiploidy,hypodiploidy or near-tetraploidy karyotypes; patients with the latter pattern appear to have a worse prognosis than patients with a hyperdiploid karyotype (med survival of 1.5 yr vs 3 yrs; p<0.04). Del(6q) abnormalities were more frequent in the second hypodiploid group.

Cytogenetics

Cytogenetics Morphological del(6q) are mainly so-called terminal deletions, with a variable breakpoint in q12, q15, q21, or q23; overall, the break occurs predominantly in 6q21.

Genes involved and Proteins

Note del(6q) in MM cases encompass the 6q21 band : loss of this band suggests that the critical gene(s) might be a recessive tumour suppressor gene sitting in 6q21, which remains to be identified

External links

Other database del(6q) in Multiple Myeloma Mitelman database (CGAP - NCBI)

Other database	del(6q) in Multiple Myeloma	Mitelman database (CGAP - NCBI)

Bibliography

Improved cytogenetics in multiple myeloma: a study of 151 patients including 117 patients at diagnosis.

LaˆØ JL, Zandecki M, Mary JY, Bernardi F, Izydorczyk V, Flactif M, Morel P, Jouet JP, Bauters F, Facon T

Blood. 1995 ; 85 (9) : 2490-2497.

PMID 7537117

Cytogenetic findings in 200 patients with multiple myeloma.

Sawyer JR, Waldron JA, Jagannath S, Barlogie B

Cancer genetics and cytogenetics. 1995 ; 82 (1) : 41-49.

PMID 7627933

Cytogenetic 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, Trimoreau F, Gachard N, Rouzier E, Jaccard A, Bordessoule D, Praloran V

British journal of haematology. 1997 ; 96 (3) : 594-600.

PMID 9054668

Cytogenetic analysis of 280 patients with multiple myeloma and related disorders: primary breakpoints and clinical correlations.

Calasanz MJ, Cigudosa JC, Odero MD, Ferreira C, Ardanaz MT, Fraile A, Carrasco JL, Solˆ© F, Cuesta B, Gullˆ„n A

Genes, chromosomes & cancer. 1997 ; 18 (2) : 84-93.

PMID 9115968

Jumping translocations of chromosome 1q in multiple myeloma: evidence for a mechanism involving decondensation of pericentromeric heterochromatin.

Sawyer JR, Tricot G, Mattox S, Jagannath S, Barlogie B

Blood. 1998 ; 91 (5) : 1732-1741.

PMID 9473240

Chromosomal analysis in multiple myeloma: cytogenetic evidence of two different diseases.

Smadja NV, Fruchart C, Isnard F, Louvet C, Dutel JL, Cheron N, Grange MJ, Monconduit M, Bastard C

Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1998 ; 12 (6) : 960-969.

PMID 9639426

Contributor(s)

Written 09-1998 Christophe Brigaudeau

Citation

This paper should be referenced as such :
Brigaudeau C . del(6q) in Multiple Myeloma. Atlas Genet Cytogenet Oncol Haematol. Septem ber 1998 .
URL : http://AtlasGeneticsOncology.org/Genes/del6qMMID2060.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Sep 5 17:08:36 2008

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Disease	multiple myeloma (MM) is a malignant plasma cell proliferation
Phenotype / cell stem origin	mature differentiated B-cell, but also with CD56 expression, which is not found in normal plasma cell; CD38+, CD40+, CD138+.
Epidemiology	MM' s annual incidence is 30/10⁶; del(6q) is observed in about 2 to 5 % of MM cases (i.e. : 5-10 % of cases with an abnormal karyotype).
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 II; - 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	MM 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 : two distinct cytogenetic pattern have been reported, according to the chromosome number : 1- a hyperdiploid pattern, and 2- a pattern of either pseudodiploidy,hypodiploidy or near-tetraploidy karyotypes; patients with the latter pattern appear to have a worse prognosis than patients with a hyperdiploid karyotype (med survival of 1.5 yr vs 3 yrs; p<0.04). Del(6q) abnormalities were more frequent in the second hypodiploid group.