{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T01:00:10Z","timestamp":1792803610271,"version":"4.5.0"},"reference-count":36,"publisher":"MDPI AG","issue":"14","license":[{"start":{"date-parts":[[2022,7,17]],"date-time":"2022-07-17T00:00:00Z","timestamp":1658016000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002347","name":"German Federal Ministry of Education and Research (BMBF)","doi-asserted-by":"publisher","award":["01GM1909C"],"award-info":[{"award-number":["01GM1909C"]}],"id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]},{"name":"German Fanconi Anemia Support Group","award":["01GM1909C"],"award-info":[{"award-number":["01GM1909C"]}]},{"name":"Fanconi Anemia Research Fund","award":["01GM1909C"],"award-info":[{"award-number":["01GM1909C"]}],"id":[{"id":"https:\/\/ror.org\/04w07g537","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>Background: Fanconi anemia (FA) is a rare inherited DNA instability disorder with a remarkably elevated risk of oral squamous cell carcinoma. These cancers can be detected with oral brush biopsy-based cytology even at early stages. This study aims to determine the diagnostic accuracy of a new multi-color fluorescent in situ hybridization (FISH) assay consisting of probes for CCND1, TERC, MYC and centromere of chromosome 6, as well as a 9p21 FISH assay consisting of probes for CDKN2A and centromere of chromosome 9 for the detection of oral (pre) malignant lesions in FA. Methods: (I) Cutoffs for the dichotomization of positive or negative multi-color FISH results are determined and (II) retrospectively validated by using archived oral brush biopsy specimens from individuals with Fanconi anemia. In addition, the specimens for cutoff determination were re-hybridized with the 9p21 FISH assay. Results: A cutoff of six or more chromosomal aneuploid cells for a positive FISH result was determined in the cutoff study on 160 biopsy specimens. The validating of this cutoff on 152 specimens showed at best a sensitivity of 87% and a specificity of 82.9%. Conclusion: Multi-color FISH is a sufficient tool to detect chromosomal aneuploidy in oral (pre) malignant lesions of individuals with Fanconi anemia. However, some false positive results may hamper the application as an adjuvant method to oral brush biopsy-based cytology in an oral cancer surveillance program.<\/jats:p>","DOI":"10.3390\/cancers14143468","type":"journal-article","created":{"date-parts":[[2022,7,17]],"date-time":"2022-07-17T21:00:28Z","timestamp":1658091628000},"page":"3468","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["A New Multi-Color FISH Assay for Brush Biopsy-Based Detection of Chromosomal Aneuploidy in Oral (Pre)Cancer in Patients with Fanconi Anemia"],"prefix":"10.3390","volume":"14","author":[{"given":"Bruno Eduardo","family":"Silva de Araujo","sequence":"first","affiliation":[{"name":"Department of Cytopathology, Heinrich Heine University, 40225 D\u00fcsseldorf, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mona","family":"Markgraf","sequence":"additional","affiliation":[{"name":"Department of Cytopathology, Heinrich Heine University, 40225 D\u00fcsseldorf, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabela Karoline","family":"de Santana Almeida Araujo","sequence":"additional","affiliation":[{"name":"Department of Cytopathology, Heinrich Heine University, 40225 D\u00fcsseldorf, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"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, 40225 D\u00fcsseldorf, Germany"},{"name":"Centre for Child and Adolescent Health, HELIOS Klinikum, 47805 Krefeld, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralf","family":"Dietrich","sequence":"additional","affiliation":[{"name":"German Fanconi Anemia Support Group, 59427 Unna, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia","family":"Pomjanski","sequence":"additional","affiliation":[{"name":"Department of Cytopathology, Heinrich Heine University, 40225 D\u00fcsseldorf, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Schramm","sequence":"additional","affiliation":[{"name":"Department of Cytopathology, Heinrich Heine University, 40225 D\u00fcsseldorf, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,7,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1038\/nrc.2017.116","article-title":"Fanconi Anaemia and Cancer: An Intricate Relationship","volume":"18","author":"Nalepa","year":"2018","journal-title":"Nat. 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