{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T03:01:32Z","timestamp":1792119692596,"version":"4.4.0"},"reference-count":12,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,1,23]],"date-time":"2020-01-23T00:00:00Z","timestamp":1579737600000},"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":["J Cutan Pathol"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>BRCA1\u2010associated Protein 1 (<jats:italic>BAP1<\/jats:italic>)\u2010inactivated melanocytic nevi\/tumors (BIMT) have distinct morphologic features. A typical case exhibits a biphasic population of cytologically bland conventional melanocytes and a second proliferation of larger epithelioid melanocytes with abundant eosinophilic cytoplasm. The vast majority of cases harbor <jats:italic>BRAF V600E<\/jats:italic> in both components with bi\u2010allelic inactivation of <jats:italic>BAP1<\/jats:italic> in the epithelioid component by various molecular mechanisms resulting in loss of nuclear protein expression, which can be demonstrated by immunohistochemistry. We present a case of BIMT with histopathologic features highly suggestive of this entity but unexpected retention of nuclear expression of the <jats:italic>BAP1<\/jats:italic> protein. Subsequent molecular tests showed heterozygous loss of the <jats:italic>BAP1<\/jats:italic> locus on the short arm of chromosome 3 (3p21.1) by chromosomal microarray analysis (CMA) and a suspected c.505C&gt;T p.H169Y pathogenic variant identified by DNA sequencing that was subsequently confirmed by primer\u2010specific SNaPshot mini\u2010sequencing. In light of the heterozygous deletion of <jats:italic>BAP1<\/jats:italic>, this variant in the remaining allele encodes a catalytically inactive BAP1 mutant protein as shown in functional studies. The presence of a nonfunctional allele within the nucleus combined with a heterozygous deletion of <jats:italic>BAP1<\/jats:italic> explains the clear and characteristic BIMT morphology observed by histopathology. This case underlines the potential importance of molecular diagnostics when protein expression studies do not correlate with morphology.<\/jats:p>","DOI":"10.1111\/cup.13642","type":"journal-article","created":{"date-parts":[[2019,12,31]],"date-time":"2019-12-31T14:09:57Z","timestamp":1577801397000},"page":"485-489","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["A case of molecularly confirmed <i>BAP1<\/i> inactivated melanocytic tumor with retention of immunohistochemical expression: A confounding factor"],"prefix":"10.1111","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9462-652X","authenticated-orcid":false,"given":"Konstantinos","family":"Linos","sequence":"first","affiliation":[{"name":"Laboratory for Clinical Genomics and Advanced Technology, Department of Pathology and Laboratory Medicine Dartmouth\u2010Hitchcock Medical Center, Norris Cotton Cancer Center and Geisel School of Medicine at Dartmouth  Lebanon New Hampshire"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aaron E.","family":"Atkinson","sequence":"additional","affiliation":[{"name":"Laboratory for Clinical Genomics and Advanced Technology, Department of Pathology and Laboratory Medicine Dartmouth\u2010Hitchcock Medical Center, Norris Cotton Cancer Center and Geisel School of Medicine at Dartmouth  Lebanon New Hampshire"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaofeng","family":"Yan","sequence":"additional","affiliation":[{"name":"Laboratory for Clinical Genomics and Advanced Technology, Department of Pathology and Laboratory Medicine Dartmouth\u2010Hitchcock Medical Center, Norris Cotton Cancer Center and Geisel School of Medicine at Dartmouth  Lebanon New Hampshire"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregory J.","family":"Tsongalis","sequence":"additional","affiliation":[{"name":"Laboratory for Clinical Genomics and Advanced Technology, Department of Pathology and Laboratory Medicine Dartmouth\u2010Hitchcock Medical Center, Norris Cotton Cancer Center and Geisel School of Medicine at Dartmouth  Lebanon New Hampshire"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joel A.","family":"Lefferts","sequence":"additional","affiliation":[{"name":"Laboratory for Clinical Genomics and Advanced Technology, Department of Pathology and Laboratory Medicine Dartmouth\u2010Hitchcock Medical Center, Norris Cotton Cancer Center and Geisel School of Medicine at Dartmouth  Lebanon New Hampshire"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,1,23]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.910"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2013.1529"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0035295"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e3182498be5"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pathol.2015.12.007"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000000209"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2014.10.015"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22473"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms8307"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep18462"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi960099f"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1194472"}],"container-title":["Journal 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