XL CDKN2A consists of an orange-labeled probe hybridizing to the CDKN2A (p16)/CDKN2B (p15) gene region at 9p21 and a green-labeled probe hybridizing to the centromere of chromosome 9.

Probe maps are created in accordance with the intended purpose of the product. Solid colored bars do not necessarily indicate that the probe fully covers the indicated genomic region. Therefore, caution is advised when interpreting results generated through off-label use. Probe map details based on UCSC Genome Browser GRCh37/hg19. Map components not to scale. Further information is available on request.

Acute lymphoblastic leukemia (ALL) is the most common childhood cancer type. T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive and quickly progressing type of ALL affecting T-lymphocytes. Inactivation of the tumor suppressor genes CDKN2A/2B, located at chromosomal region 9p21, is a significant event in the development of T-ALL and other cancer types. Principally, loss of function might happen by deletion, methylation of promotor regions or mutations, whereas deletion of chromosomal region 9p21 seems to be the predominant mechanism. CDKN2A/2B deletions can be detected in about 60% of pediatric and about 50% of adult T-ALL cases. Most deletions are within the resolution of the FISH technique. Genetic alterations of the 9p21 locus result in loss of regulation of the cell cycle which is critical to cancer development.

Clinical Applications

• Acute Lymphoblastic Leukemia (ALL)

XL CDKN2A hybridized to bone marrow cells. Two normal cells and several cells with two green signals are shown indicating a homozygous deletion of the CDKN2A.

• Novara et al (2009) Human Genet 126:511-520
• Sulong et al (2009) Blood 113:100-107
• Girardi et al (2017) Blood 129:1113-1123