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Two thirds of the SCCs arise in the oral cavity and are typically preceded by visible lesions. These lesions can be classified with brush biopsy\u2010based cytological methods regarding their risk of a malignant transformation. As a proof of concept, this study aims to investigate genetic changes and chromosomal aneuploidy using fluorescent in situ hybridization (FISH) on oral squamous cells derived from FA affected individuals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Material and Methods<\/jats:title><jats:p>Five FA oral SCC (OSCC) tumor cell lines, one FA OSCC cervical lymph node metastasis as well as tumor\u2010negative and atypical smears from oral brush biopsies were analyzed with FISH probes covering 5p15.2, <jats:italic>MYC<\/jats:italic>, <jats:italic>EGFR<\/jats:italic>, <jats:italic>TERC<\/jats:italic>, 9q34.1, <jats:italic>CCND1<\/jats:italic>, 9p21 and centromeres of chromosomes 3, 6, 7, 9, 11, and 17.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>OSCC specimens showed gains of all analyzed chromosomal regions. Chromosomal aneuploidy was observed in five of the six OSCC specimens in two multicolor FISH assays with panels of four probes each. Five out of six OSCC specimens displayed a relative deletion of 9p21. Applied on atypical brush biopsy\u2010based smears, chromosomal aneuploidy was detected in malignant lesions but not in the smear derived from a severe parodontitis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>As proof of concept, FISH was able to detect genetic changes and chromosomal aneuploidy discriminating oral cancer from noncancerous lesions in individuals with FA. This supports its application on oral brush biopsy\u2010based cytology.<\/jats:p><\/jats:sec>","DOI":"10.1002\/cre2.519","type":"journal-article","created":{"date-parts":[[2021,12,2]],"date-time":"2021-12-02T11:27:38Z","timestamp":1638444458000},"page":"108-116","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Detection of cytogenetic changes and chromosomal aneuploidy with fluorescent in situ hybridization in cytological specimens of oral cancers in Fanconi anemia\u2014Proof of concept"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7804-464X","authenticated-orcid":false,"given":"Bruno Eduardo","family":"Silva de Araujo","sequence":"first","affiliation":[{"name":"Department of Cytopathology Heinrich Heine University  D\u00fcsseldorf Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4328-9556","authenticated-orcid":false,"given":"Eunike","family":"Velleuer","sequence":"additional","affiliation":[{"name":"Department of Cytopathology Heinrich Heine University  D\u00fcsseldorf Germany"},{"name":"Centre for Child and Adolescent Health HELIOS Klinikum  Krefeld Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ralf","family":"Dietrich","sequence":"additional","affiliation":[{"name":"German Fanconi Anemia Support Group  Eschau Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia","family":"Pomjanski","sequence":"additional","affiliation":[{"name":"Department of Cytopathology Heinrich Heine University  D\u00fcsseldorf Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabela Karoline","family":"de Santana Almeida Araujo","sequence":"additional","affiliation":[{"name":"Department of Cytopathology Heinrich Heine University  D\u00fcsseldorf Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Schlensog","sequence":"additional","affiliation":[{"name":"Institute of Pathology Heinrich Heine University  D\u00fcsseldorf Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanne Irmtraud","family":"Wells","sequence":"additional","affiliation":[{"name":"Division of Oncology Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Josephine Christine","family":"Dorsman","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics and Human Genetics Amsterdam University Medical Center  Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6164-4323","authenticated-orcid":false,"given":"Martin","family":"Schramm","sequence":"additional","affiliation":[{"name":"Department of Cytopathology Heinrich Heine University  D\u00fcsseldorf Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,12,2]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.28357"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.47.1.38"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcms.2013.01.040"},{"key":"e_1_2_9_5_1","first-page":"170","volume-title":"Compendium on quality assurance, proficiency testing and workload limitations in clinical cytology","author":"B\u00f6cking A.","year":"1995"},{"issue":"1","key":"e_1_2_9_6_1","first-page":"67","article-title":"Consensus report of the ESACP task force on standardization of diagnostic DNA image cytometry. 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