{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T16:43:14Z","timestamp":1791304994380,"version":"4.3.1"},"reference-count":30,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,1,24]],"date-time":"2023-01-24T00:00:00Z","timestamp":1674518400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Histopathology"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:sec><jats:title>Aims<\/jats:title><jats:p>Onychomatricoma (OM), an uncommon benign fibroepithelial neoplasm of the nail unit, is sometimes diagnostically challenging for clinicians and pathologists. OM consistently expresses CD34, but no specific immunohistohemical markers or recurrent genetic alterations have been identified to date. Recent studies have suggested that Wnt signalling is a key molecular characteristic of OM.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and results<\/jats:title><jats:p>Ten cases were analysed: four classical OM including two with pleomorphic cells; two superficial acral fibromyxoma\u2010like variants of OM; three micropapilliferum variants of OM including one with pleomorphic cells; and one proliferating variant of OM. Immunohistochemically, the spindle cells were positive with CD34 (<jats:italic>n<\/jats:italic>\u00a0=\u00a010) and CD99 (<jats:italic>n<\/jats:italic>\u00a0=\u00a01), with focal reactivity for CD10 (<jats:italic>n<\/jats:italic>\u00a0=\u00a05). The epithelial component of the tumours expressed immunopositivity for LEF\u20101. Using array comparative genomic hybridization (aCGH), we demonstrated that all OM, including its variants that were tested (<jats:italic>n<\/jats:italic>\u00a0=\u00a08), harboured a few copy number alterations with losses of whole or part of chromosome 13 including the <jats:italic>RB1<\/jats:italic> gene (<jats:italic>n<\/jats:italic>\u00a0=\u00a08) and chromosome 16 (<jats:italic>n<\/jats:italic>\u00a0=\u00a06).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We report a recurrent loss of <jats:italic>RB1<\/jats:italic> (13q) as a possible driver molecular event in OM indicating a relationship between OM and other lesions of the spectrum of the so\u2010called \u201813q\/RB1\u2019 family of tumours. We did not identify a role for the Wnt\/beta\u2010catenin signalling pathway, as has been proposed in a recent study. LEF\u20101 could be a potential sensitive and specific marker of OM and should be used in the differential diagnosis between OM, superficial acral fibromyxoma, and the CD34\u2010positive fibrosing family of tumours.<\/jats:p><\/jats:sec>","DOI":"10.1111\/his.14864","type":"journal-article","created":{"date-parts":[[2023,1,17]],"date-time":"2023-01-17T11:19:18Z","timestamp":1673954358000},"page":"767-778","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Onychomatricoma: a clinicopathological, immunohistochemical, and molecular study of 10 cases highlighting recurrent <scp>RB1<\/scp> deletion and the potential diagnostic value of <scp>LEF<\/scp>\u20101"],"prefix":"10.1111","volume":"82","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6214-3416","authenticated-orcid":false,"given":"Christophe","family":"Perrin","sequence":"first","affiliation":[{"name":"Laboratoire Central d'Anatomie Pathologique Nice University Hospital  Nice France"},{"name":"Nail's Dermatology Consultations  Cannes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Pedeutour","sequence":"additional","affiliation":[{"name":"Department of Pathology and Molecular Oncology Nice University Hospital  Nice France"},{"name":"Laboratory of Solid Tumors Genetics Institute for Research on Cancer and Aging of Nice (IRCAN) CNRS UMR 7284\/INSERM U1081, University of C\u00f4te d'Azur (UCA), Nice University Hospital  Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Coutts","sequence":"additional","affiliation":[{"name":"Department of Cellular Pathology Maidstone Hospital  Kent UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien","family":"Ambrosetti","sequence":"additional","affiliation":[{"name":"Laboratoire Central d'Anatomie Pathologique Nice University Hospital  Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9reng\u00e8re","family":"Dadone\u2010Montaudi\u00e9","sequence":"additional","affiliation":[{"name":"Department of Pathology and Molecular Oncology Nice University Hospital  Nice France"},{"name":"Laboratory of Solid Tumors Genetics Institute for Research on Cancer and Aging of Nice (IRCAN) CNRS UMR 7284\/INSERM U1081, University of C\u00f4te d'Azur (UCA), Nice University Hospital  Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,1,24]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/DAD.0b013e318293f387"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.13900"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000431315"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/DAD.0b013e3181af8516"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000479059"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/DAD.0000000000001440"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/DAD.0000000000000511"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/DAD.0000000000001648"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.2340\/actadv.v101.546"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-3152"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-3727"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/DAD.0b013e3181f8c39a"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e31824a0b83"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/DAD.0000000000000639"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2016.10.016"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/his.14429"},{"key":"e_1_2_11_18_1","first-page":"1389","article-title":"Wnt signaling pathway protein LEF1 in cancer, as a biomarker for prognosis and a target for treatment","volume":"7","author":"Santiago L","year":"2017","journal-title":"Am. 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