The CKS1B/CDKN2C product consists of a 182kb probe, labelled in red, covering the entire CKS1B gene and flanking regions, including the PYGO2 and ZBTB7B genes, and a green probe covering a 170kb region, including the entire CDKN2C gene, the D1S1661 marker and the centromeric end of the FAF1 gene.
The CKS1B (CDC28 protein kinase regulatory subunit 1B) gene is located at 1q21 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.
Microscope image
The CytoCell® CKS1B/CDKN2C (P18) Amplification/Deletion Probe is a qualitative, non-automated, fluorescence in situ hybridisation (FISH) test used to detect chromosomal gains and deletions in the 1p32.3 and 1q21 regions on chromosome 1 in Carnoy’s solution (3:1 methanol/acetic acid) fixed haematologically-derived cell suspensions from patients with confirmed or suspected multiple myeloma (MM).
This device is designed as an adjunct to other clinical and histopathological tests in recognised diagnostic and clinical care pathways, where knowledge of CKS1B or CDKN2C (P18) status would be important for clinical management.
This device is designed to detect genomic gains or losses larger than the region covered by the red and green clones in this probe set, which include the CKS1B and CDKN2C (P18) regions. Genomic gains or losses outside these regions or partial gains or losses of this region may not be detected with this device.
This device is not intended for: use as a stand-alone diagnostic, use as a companion diagnostic, prenatal testing, population-based screening, near-patient testing, or self-testing.
This device has not been validated for sample types, disease types, or purposes outside of those stated in the intended purpose.
It is intended as an adjunct to other diagnostic laboratory tests and therapeutic action should not be initiated on the basis of the FISH result alone.
Reporting and interpretation of FISH results should be performed by suitably qualified staff, consistent with professional standards of practice, and should take into consideration other relevant test results, clinical and diagnostic information.
This device is intended for laboratory professional use only.
Failure to adhere to the protocol may affect the performance and lead to false positive/negative results.
We have been working with CytoCell fish probes for 2 decades because of their excellent clarity and intensity regardless of the size of the probe. It is so clear and simple to detect. The available probes are created as a best solution for detection of most frequent rearrangements in routine diagnostic and has high hybridization rate. Also, we are very pleased with the choice of probes that perfectly meets the needs of our laboratory. Special impression left the fact that technical support is provided by the people who worked in the laboratory and who are close to the problems we face, so they have the appropriate solution.
Dr Marina Djurisic
Head of Laboratory of Medical Genetics, Mother and Child Health Care Institute of Serbia “Dr Vukan Cupic”, Belgrade, Serbia
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