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In this webinar, Dr. Keith Wharton reviews a set of published studies using single cell analysis of lung tissues that have provided ground breaking insight into lung development and disease.
Translocations of the ALK (anaplastic lymphoma kinase) gene at 2p23 have originally been associated with anaplastic lymphomas, B-cell lymphomas, neuroblastomas and myofibroblastic tumors. At least 21 translocation partners have been described, however 80% of the translocations involves the NPM1 gene (5q35). ALK rearrangements have been described in non-small cell lung cancer (NSCLC) cases. The ALK (2p23) Break probe is optimized to detect translo...
Pericentric inversion of chromosome 10 involving the RET (ret proto-oncogene) gene at chromosome 10q11 is known to increase expression of the RET gene by fusion with KIF5B (10p11). Translocations with other fusion partners have also been described. Elevated expression of RET is observed in non-small cell lung cancer (NSCLC). Translocations involving RET have also been described in thyroid carcinomas. The RET (10q11) Break probe is optimized to de...
Amplification of the fibroblast growth factor receptor type 1 gene (FGFR1) has been observed in numerous cancer types including lung cancer (especially squamous cell carcinoma) and breast cancer. The FGFR1 (8p11)/SE 8 FISH probe is optimized to detect amplification involving the FGFR1 gene region at 8p11 in a dual-color assay on paraffin embedded tissue sections. The chromosome 8 satellite enumeration probe (SE 8) at D8Z1 is included to facilitat...
Amplification of the 3q26-q27 has a high prevalence in cervical, prostate, lung, and squamous cell carcinoma. This amplification can also be found to a lesser extent in CLL patients. The minimal region of amplification was refined to a 1- to 2-Mb genomic segment containing several potential cancer genes including TERC, the human telomerase RNA gene. The TERC (3q26) specific FISH probe is optimized to detect copy numbers of the TERC (previously kn...
The inversion in 2p21 and 2p23 leading to a fusion of the kinase domain of ALK (anaplastic lymphoma kinase) and EML4 (echinoderm microtubule associated protein like 4) has been described in 5-7% of non-small cell lung cancer (NSCLC) cases. The ALK/EML4 t(2;2); inv(2) Fusion probe is designed as a dual-color assay to detect the fusion of the ALK gene with the EML4 gene by paracentric inversion with breakage and reunion occurring at bands 2p21 and ...
Amplifications of the TERT gene at 5p15 has been observed in a variety of cancers, particularly lung cancer, cervical tumors, and breast carcinomas. Several studies have revealed a high frequency of TERT gene amplification in human tumors, which indicates that the TERT gene may be a target for amplification during the transformation of human malignancies and that this genetic event probably contributes to a dysregulation of TERT/ telomerase occur...
Homozygous and hemizygous deletions of 9p21 are the earliest and most common genetic alteration in bladder cancer. The CDKN2A (INK4A) gene has been identified as tumor suppressor gene in this region which is commonly deleted in bladder cancer. The loss of DNA sequences on chromosomal bands 9p21-22 has been documented also in a variety of malignancies including leukemias, gliomas, lung cancers, and melanomas. The CDKN2A (9p21) FISH probe is optimi...
The MET proto-oncogene is a receptor-like tyrosine kinase that drives a physiological cellular program important for development, cell movement, cell repair and cellular growth. Aberrant execution of this program has been associated to neoplastic transformation, invasion and metastasis. Activation of MET has been reported in a significant percentage of human cancers including non-small cell lung cancer (NSCLC) and is amplified during the transiti...
Epidermal growth factor receptor (EGFR) is a cell membrane protein, providing signal transduction and cell growth. It is a member of the Erb-B family of type I receptor tyrosine kinases and implicated in the development and progression of non-small cell lung carcinomas (NSCLC), breast, intestine, and other organs. EGFR has been found to act as a strong prognostic indicator in head and neck, ovarian, cervical, bladder and oesophageal cancers. In t...