Structural abnormalities of chromosome 1 are frequently detected in multiple myeloma and have been correlated with more advanced disease1.
Amplification of 1q21 (CKS1B) is one of the most recurrent chromosomal aberrations in multiple myeloma3. Over-expression of the CKS1B gene up-regulates cell cycle progression, resulting in a more proliferative disease2. This is related to the advanced phenotype of multiple myeloma and may therefore be associated with poor prognosis and disease progression3. Gain of 1q21 has been linked to inferior survival and further amplification is observed in disease relapse. It has been shown that gain of 1q21 copy number is not an independent prognostic factor in multiple myeloma and it is often associated with other chromosomal aberrations, most commonly t(4:14)(p16;q32) (IGH-FGFR3) and chromosome 13 deletion2. The association of 1q21 gain and loss of chromosome 13 has been linked to the risk of conversion to overt disease2. In a case study of multiple myeloma patients, it was discovered that 30% of chromosomal abnormalities mapped to chromosome 1, that most up-regulated genes mapped to chromosome 1q and down-regulated genes to chromosome 1p4. Gains of the long arm 1q are one of the most common genetic abnormalities in multiple myeloma5and duplications of chromosome band 1q are frequently associated with disease progression3,6,7.
CDKN2C (P18), in band 1p32.3, is a tumour suppressor gene responsible for inducing apoptotic cell death and DNA fragmentation8. It is up-regulated by the expression of the cytokine IL-6 in multiple myeloma and homozygous deletion of the gene is associated with a more proliferative disease8. Although CDKN2C deletions have been reported to be rare in human malignancy, cytogenetic analyses have shown that abnormalities of 1p32-36 occur in around 16% of human multiple myeloma9.
1. Tasaka et al., Br J Haematology 1997;96(1):98-102
2. Fonseca et al., Leukemia 2006;20(11):2034-40
3. Hanamura I, Blood 2006;108(5):1724-32
4. Shaughnessy JD, Blood 2007;109(6):2276-84
5. Avet-Loiseau H, Genes Chromosomes Cancer 1997;19(2):124-33
6. Sawyer JR, Blood 1998;91(5):1732-41
7. Le Baccon P et al., Genes Chromosomes Cancer 2001;32(3):250-64
8. Leone et al., Clin Cancer Res. 2008;14(19):6033-41
9. Kulkarni et al., Leukemia 2006;16:127-34
- Area of Interest*
This product is intended to be used on Carnoy’s solution (3:1 methanol/acetic acid) fixed haematological samples.
*Disease information supported by the literature and is not a reflection of the intended purpose of this product.