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CKS1B/CDKN2C(P18) Amplification/Deletion

Applications
haematology
Catalogue Numbers
LPH 039-S (5 tests)
LPH 039 (10 tests)

Probe Specification

  • CKS1B, 1q21.3, Red
  • CDKN2C (P18), 1p32.3, Green

The CKS1B/CDKN2C product consists of a 180kb probe, labelled in red, covering the entire CKS1B gene and flanking regions, including the PYOG2 and ZBTB7B genes, and a green probe covering a 168kb region, including the entire CDKN2C gene, the D1S1661 marker and the centromeric end of the FAF1 gene.

Probe Information

The CKS1B (CDC28 protein kinase regulatory subunit 1B) gene is located at 1q21.3 and the CDKN2C (cyclin depended kinase inhibitor 2C) gene is located at 1p32.3.

Gain of the 1q21 region including CKS1B is one of the most frequently-occurring chromosomal aberrations seen in multiple myeloma1. 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 progression1,2,3. Gain of 1q21 has been linked to inferior survival and further amplification is observed in disease relapse. Complete gains of the long arm of chromosome 1 are also common in multiple myeloma and can occur as isochromosomes, duplications or jumping translocations and are frequently associated with disease progression4.

CDKN2C is a tumour suppressor gene responsible for inducing apoptotic cell death and DNA fragmentation5. 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 disease5. 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 myeloma and are associated with worse overall survival2,3,5,6.

Cytogenetic abnormalities are detected by conventional cytogenetics in about one third of cases of multiple myeloma, but FISH increases the proportion of detected chromosomal abnormalities to >90%7.

In our hands, Cytocell FISH probes,have proven to be of the highest quality with bright, easy to interpret signals, thus providing confidence in our results. Cytocell’s customer support is outstanding, as their staff are extremely knowledgeable and truly care about their customers and their customers’ needs. Jennie Thurston, Director of Cytogenetics at Carolinas Pathology Group

References

  1. Hanamura I, Blood 2006;108(5):1724-32
  2. Fonseca et al., Leukemia 2009;23(12):2210-2221
  3. Sawyer, Cancer Genetics 2011;204(1):3-12
  4. Fonseca et al., Leukemia 2006;20(11):2034-40
  5. Leone et al., Clin Cancer Res 2008;14(19):6033-41
  6. Kulkarni et al., Leukemia 2002;16:127-34
  7. Swerdlow et al., (eds,) WHO Classification of Tumours of Haematopoietic and Lymphoid Tissue, Lyon, France, 4th edition, IARC,2017
  8. Arsham, MS., Barch, MJ. and Lawce HJ. (eds.) (2017) The AGT Cytogenetics Laboratory Manual. New Jersey: John Wiley & Sons Inc.
  9. Mascarello JT, Hirsch B, Kearney HM, et al. Section E9 of the American College of Medical Genetics technical standards and guidelines: fluorescence in situ hybridization. Genet Med. 2011;13(7):667-675.
  10. Wiktor AE, Dyke DLV, Stupca PJ, Ketterling RP, Thorland EC, Shearer BM, Fink SR, Stockero KJ, Majorowicz JR, Dewald GW. Preclinical validation of fluorescence in situ hybridization assays for clinical practice. Genetics in Medicine. 2006;8(1):16–23.

Microscope Images

CKS1B CDKN2C(P18) Amplification Deletion magnified
Area of Interest*
MM

Disclaimer

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.