XL TP53/NF1 consists of an orange-labeled probe hybridizing to the TP53 gene region at 17p13 and a green-labeled probe hybridizing to the NF1 gene region at 17q11.2.

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.

TP53 is a tumor suppressor gene often described as the guardian of the genome. Deletions and/or mutations can be detected in a wide range of hematological neoplasms and are the most common genetic aberrations in human cancer. The neurofibromin 1 gene (NF1), located at 17q11.2, is a tumor suppressor gene negatively regulating the RAS signal transduction pathway. Germline-loss of function can cause neurofibromatosis type I, a congenital genetic disorder of the nervous system which usually appears during childhood. Somatic deletions of NF1 are detected in about 3.5-7% of de novo acute myeloid leukemia (AML) cases and are often associated with a complex aberrant karyotype. Mutations in the remaining NF1 allele are reported with varying frequency. NF1 deleted cells have a decreased sensitivity to Ara-C in cell culture studies.
FISH is a valuable tool for the detection of NF1 deletions which might be easily overlooked by conventional cytogenetics due to the small size of the aberration.

Clinical Applications

• Acute Myelogenous Leukemia (AML)
• Chronic Myelogenous Leukemia (CML)

XL TP53/NF1 hybridized to lymphocytes. One normal metaphase is shown.

• Haferlach et al (2012) Leukemia 26:834-839
• Boudry-Labis et al (2013) Am J Hematol 88:306-311
• Tessoulin et al (2017) Blood Rev:doi:org/10.1016/j.blre.2017.03.001

• Utility and performance of bacterial artificial chromosomes-on-beads assays in chromosome analysis of clinical prenatal samples, products of conception and blood samples.
• A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature.
• Distinct roles of ATM and ATR in the regulation of ARP8 phosphorylation to prevent chromosome translocations.
• Heterogeneous MYCN amplification in neuroblastoma: a SIOP Europe Neuroblastoma Study.
• Immense random colocalization, revealed by automated high content image cytometry, seriously questions FISH as gold standard for detecting EML4-ALK fusion.
• Fluorescence in situ hybridisation assays designed for del(7q) detection uncover more complex rearrangements in myeloid leukaemia cell lines
• Detection of t(7;12)(q36;p13) in paediatric leukaemia using dual colour fluorescence in situ hybridisation.
• A rare case of t(11;22) in a mantle cell lymphoma like B-cell neoplasiaresulting in a fusion of IGL and CCND1: case report.
• Genomic DNA-chip hybridization in t(11;14)-positive mantle cell lymphomas shows a high frequency of aberrations and allows a refined characterization of consensus regions.