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Product summary

  • Technology FISH
  • Application Haematology
  • Areas of interest MM
  • Region 1q21.3 / 1p32.3
  • Label    
  • Product No. LPH 039 (10 tests)
    LPH 039-S (5 tests)
  • Intended use In vitro diagnostic. 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.

Chromomaps

Overview

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.

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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

Recommended protocol for CytoCell haematology FISH

Select a protocol step to view:

Sample and slide preparation

Sample and slide preparation Thumbnail
  • Spot the cell sample onto a glass microscope slide. Allow to dry.
  • Immerse the slide in 2x Saline Sodium Citrate (SSC) for 2 minutes at room temperature (RT) without agitation.
  • Dehydrate in an ethanol series (70%, 85% and 100%), each for 2 minutes at RT.
  • Allow to dry.
Haematology FISH protocol Video Image
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Haematology FISH protocol

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