PMID- 29339834 OWN - NLM STAT- MEDLINE DCOM- 20190305 LR - 20230216 IS - 1530-0307 (Electronic) IS - 0023-6837 (Linking) VI - 98 IP - 4 DP - 2018 Apr TI - Use of multicolor fluorescence in situ hybridization to detect deletions in clinical tissue sections. PG - 403-413 LID - 10.1038/s41374-017-0007-2 [doi] AB - A variety of laboratory methods are available for the detection of deletions of tumor suppressor genes and losses of their proteins. The clinical utility of fluorescence in situ hybridization (FISH) for the identification of deletions of tumor suppressor genes has previously been limited by difficulties in the interpretation of FISH signal patterns. The first deletion FISH assays using formalin-fixed paraffin-embedded tissue sections had to deal with a significant background level of signal losses affecting nuclei that are truncated by the cutting process of slide preparation. Recently, more efficient probe designs, incorporating probes adjacent to the tumor suppressor gene of interest, have increased the accuracy of FISH deletion assays so that true chromosomal deletions can be readily distinguished from the false signal losses caused by sectioning artifacts. This mini-review discusses the importance of recurrent tumor suppressor gene deletions in human cancer and reviews the common FISH methods being used to detect the genomic losses encountered in clinical specimens. The use of new probe designs to recognize truncation artifacts is illustrated with a four-color PTEN FISH set optimized for prostate cancer tissue sections. Data are presented to show that when section thickness is reduced, the frequency of signal truncation losses is increased. We also provide some general guidelines that will help pathologists and cytogeneticists run routine deletion FISH assays and recognize sectioning artifacts. Finally, we summarize how recently developed sequence-based approaches are being used to identify recurrent deletions using small DNA samples from tumors. FAU - Yoshimoto, Maisa AU - Yoshimoto M AD - Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada. FAU - Ludkovski, Olga AU - Ludkovski O AD - Department of Pathology, University Health Network, Toronto, Canada. FAU - Good, Jennifer AU - Good J AD - Department of Pathology and Molecular Medicine, Queen's University, Kingston, Canada. FAU - Pereira, Ciro AU - Pereira C AD - Departments of Genetics, School of Medicine of Ribeirao Preto, University of Sao Paulo, Ribeirao Preto, Sao Paulo, Brazil. FAU - Gooding, Robert J AU - Gooding RJ AD - Department of Physics, Engineering Physics and Astronomy, Queen's University, Kingston, Canada. FAU - McGowan-Jordan, Jean AU - McGowan-Jordan J AD - Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario, Ottawa, Canada. AD - Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, Canada. FAU - Boag, Alexander AU - Boag A AD - Department of Pathology and Molecular Medicine, Queen's University, Kingston, Canada. FAU - Evans, Andrew AU - Evans A AD - Department of Pathology, University Health Network, Toronto, Canada. FAU - Tsao, Ming-Sound AU - Tsao MS AD - Department of Pathology, University Health Network, Toronto, Canada. FAU - Nuin, Paulo AU - Nuin P AD - Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada. FAU - Squire, Jeremy A AU - Squire JA AUID- ORCID: 0000-0002-9863-468X AD - Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada. jsquireinsp@gmail.com. AD - Department of Pathology and Molecular Medicine, Queen's University, Kingston, Canada. jsquireinsp@gmail.com. AD - Departments of Genetics, School of Medicine of Ribeirao Preto, University of Sao Paulo, Ribeirao Preto, Sao Paulo, Brazil. jsquireinsp@gmail.com. AD - Department of Pathology and Legal Medicine, School of Medicine of Ribeirao Preto, University of Sao Paulo, Ribeirao Preto, Sao Paulo, Brazil. jsquireinsp@gmail.com. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Review DEP - 20180116 PL - United States TA - Lab Invest JT - Laboratory investigation; a journal of technical methods and pathology JID - 0376617 SB - IM EIN - Lab Invest. 2018 Mar 8;:. PMID: 29520053 MH - *Gene Deletion MH - *Genes, Tumor Suppressor MH - Humans MH - In Situ Hybridization, Fluorescence/*methods MH - Neoplasms/*genetics/pathology EDAT- 2018/01/18 06:00 MHDA- 2019/03/06 06:00 CRDT- 2018/01/18 06:00 PHST- 2017/10/11 00:00 [received] PHST- 2017/12/01 00:00 [accepted] PHST- 2017/12/01 00:00 [revised] PHST- 2018/01/18 06:00 [pubmed] PHST- 2019/03/06 06:00 [medline] PHST- 2018/01/18 06:00 [entrez] AID - S0023-6837(22)01122-9 [pii] AID - 10.1038/s41374-017-0007-2 [doi] PST - ppublish SO - Lab Invest. 2018 Apr;98(4):403-413. doi: 10.1038/s41374-017-0007-2. Epub 2018 Jan 16.