Abstract
Fluorescence in situ hybridization (FISH) is a standard technique used in routine diagnostics of genetic aberrations. Thanks to simple FISH procedure is possible to recognize tumor-specific abnormality. Its applications are limited to designed probe type. Gene rearrangements e.g., ALK, ROS1 reflecting numerous translocational partners, deletions of critical regions e.g., 1p and 19q, gene fusions e.g., COL1A1-PDGFB, genomic imbalances e.g., 6p, 6q, 11q and amplifications e.g., HER2 are targets in personalized oncology. Confirmation of genetic marker is frequently a direct indication to start specific, targeted treatment. In other cases, detected aberration helps pathologists to better distinguish soft tissue sarcomas, or to state a final diagnosis. Our main goal is to show that applying FISH to formalin-fixed paraffin-embedded tissue sample (FFPE) enables assessing genomic status in the population of cells deriving from a primary tumor or metastasis. Although many more sophisticated techniques are available, like Real-Time PCR or new generation sequencing, FISH remains a commonly used method in many genetic laboratories.
Highlights
Introduction of In Situ hybridizationScreening by in situ hybridization plays a supportive role in personalized medicine
fluorescence in situ hybridization (FISH) testing based on recognition of gene rearrangements or specific gene fusions allows distinguishing pathological diagnosis, which is especially helpful in poorly differentiated sarcomas, e.g., some SS tumors may resemble small round cells of EWS, but genetically have a rearrangement of
Some excellent examples include genetic tests of the ALK and ROS1 genes performed in lung cancer required for TKI treatment
Summary
Screening by in situ hybridization plays a supportive role in personalized medicine. A wide range of recognized aberrations: rearrangements resulting from translocations, insertions or inversions, losses (deletions) and gains (e.g., amplification) can be evaluated mainly using fluorescence in situ hybridization (FISH). Chromogenic in situ hybridization (CISH) is introduced into the molecular pathology and molecular oncology field Both in situ hybridization methods are based on the same idea of annealing to the region of interest, detection, assessment and spatial localization [1]. Testing of genetic markers often plays a pivotal role in making decisions concerning patients, from patient risk stratification to implementing the appropriate treatment Both in situ techniques are used in this field. Compared with FISH, CISH has been shown to have a sensitivity of 97.5% and a specificity of 94% for detection of the HER-2/neu gene amplification [4]. Hybridization, detection using an anti-digoxigenin antibody and an HRP-labeled secondary antibody, and result visualization using a chromogen, e.g., DAB (3,30 -diaminobenzidine) and a bright-field microscope. Possible discrepancies between independent observers in borderline distance between probe parts [10]
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