CMYC amplification, (8q24) Nuclear oncoprotein C-myc is involved in the regulation of cell proliferation, cell differentiation and apoptosis. Amplification and overexpression has been associated with numerous cancers, including esophageal tumors. Loss of FHIT and/or gain of MYC are related to an adverse prognosis in resected Esophageal Squamous Cell Carcinoma, and their use in a risk classification warrants to select […]
Loss of P16 (9p21) and 3, 7, 17 aneuploidy The loss of tumor suppressor gene P16 / CDKN2A / INK4A / MTS1 (9p21) is a prognostic factor associated with bladder cancer recurrence. Together with the identification and quantification of chromosomes 3, 7 and 17 aneuploidy in urine samples from patients with hematuria suspected of having
9p21 and Cr. 3, 7, 17 (Urovysion) Read More »
SMAX1 amplification (Xq12) The androgen receptor (AR/NR3C4/SMAX1) plays a critical role in normal prostate development and functions as a critical oncogene in all stages of prostate cancer progression and transformation, including progression to castration-resistance following androgen-deprivation therapy. NR3C4 (Xq12) controlls signaling remains and therefore remains as an important objective for the specific therapeutic interventions. Several studies suggest that AR expression
N-RAS mutations RAS genes (H-RAS, K-RAS and N-RAS) code similar G proteins involved in growth and differentiation signals from the receptors tyrosine kinase to the core cells. The N-RAS gene is located on the short arm of chromosome 1 (1p22-p32) and at a molecular level, there have been cases of colorectal cancer associated with mutations
Mutations in PIK3CA PIK3CA gene belongs to the PI3K (phosphoinositide 3 kinase) family and encodes the p110 catalytic subunit of PI3K. These lipid kinases promote various biological processes, including cell proliferation and survival. PIK3CA mutations have been identified in many hereditary syndromes and human solid tumors, including colon, breast, brain, ovary, liver and lung. In
ALK rearrangements, t(2p23) Identification of ALK (2p23) rearrangements is indicated as predictive marker for treatment response with ALK molecule inhibitors in non-small cell lung cancer (NSCLC). ALK rearrangements often appear in one subset of patients with NSCLC. These patients share many of the clinical features with EGFR mutated NSCL patients. However, with few exceptions, ALK
Mutations involving EGFR gene Somatic mutations involving the EGFR (Epidermal Growth Factor Receptor) tyrosine kinase domain confer susceptibility to therapeutic molecules (gefitinib and erlotinib), approved for the treatment of NSCLC (Non-Small Cell Lung Cancer). These mutations consist of small nucleotide deletions or substitutions in exons 18, 19, 20 and 21 of the EGFR gene, and
ROS1 rearrangements, t(6q22) ROS1 gene encodes a receptor tyrosine kinase which belongs to the insulin receptor family, with downstream signaling via the MAPK pathway through phosphorylation of RAS. Chromosomal rearrangements involving ROS1 gene (6q22) have recently been identified and described in 1–2% of patients with lung cancer. In lung cancer, ROS1 fusion partners include FIG,
Loss of P53 , del(17p13) TP53 (17p13.1) is a tumor suppressor gene that regulates cell division while maintaining the growth and division of cells at optimal levels and avoiding rapid or uncontrolled cell growth. Loss of region 17p13.1 (TP53) is a recurrent deletion occuring in a number of leukemias, such as CLL and multiple myeloma
TLX3 rearrangements, t(5;14) Most chromosomal translocations observed in T-cell acute lymphoblastic leukemia (T-ALL) often produce transcriptional activation of transcription factor oncogenes. Ectopic expression of the TLX3 (also known as HOX11L2) gene, located in 5q35, has been shown to be associated with a cryptic t(5;14)(q35;q32) specific translocation for a subtype of T-ALL. t(5;14)(q35;q32) is found in
