{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T04:24:35Z","timestamp":1760243075612,"version":"3.40.5"},"reference-count":17,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2019,7,4]],"date-time":"2019-07-04T00:00:00Z","timestamp":1562198400000},"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":[[2019,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Germline mutations in BRCA1\u2010associated protein 1 (BAP1) are associated with several neoplasms, including BAP1\u2010inactivated melanocytic tumors (BIMTs). BIMTs are classically described as biphenotypic melanocytic proliferations with BAP1\u2010deficient large epithelioid and rhabdoid melanocytes showing various degrees of cytologic atypia. This morphology has been traditionally classified as \u201cspitzoid\u201d despite the various differences between these lesions and the more classic Spitz nevi. Herein, we report a case of an otherwise healthy 11\u2010year\u2010old female patient with a family history of several malignancies who presented with multiple pink to brown papules. Histologic and immunohistochemical evaluation identified three lesions with loss of nuclear BAP1 staining. The histologic spectrum of these lesions included junctional spitzoid cells within a triphenotypic proliferation and a separate lesion composed entirely of dermal small to medium\u2010sized epithelioid melanocytes with maturation. <jats:italic>BAP1<\/jats:italic> gene sequencing revealed a germline frameshift pathogenic <jats:italic>BAP1<\/jats:italic> mutation, denoted c.1717delC. This case provides further evidence that not all BIMTs conform to classic morphological criteria and that the morphologic spectrum includes lesions resembling conventional nevi. As BIMTs can serve as an early marker of the <jats:italic>BAP1<\/jats:italic> hereditary tumor predisposition syndrome, we believe a need exists for a more comprehensive combined clinical and pathological approach for BIMT identification.<\/jats:p>","DOI":"10.1111\/cup.13525","type":"journal-article","created":{"date-parts":[[2019,6,17]],"date-time":"2019-06-17T17:25:01Z","timestamp":1560792301000},"page":"852-857","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["The morphologic spectrum of germline\u2010mutated BAP1\u2010inactivated melanocytic tumors includes lesions with conventional nevic melanocytes: A case report and review of literature"],"prefix":"10.1111","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8239-9374","authenticated-orcid":false,"given":"Timothy R.","family":"Wysozan","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Indiana University School of Medicine  Indianapolis Indiana"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sihem","family":"Khelifa","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Indiana University School of Medicine  Indianapolis Indiana"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kirsten","family":"Turchan","sequence":"additional","affiliation":[{"name":"Dermatology, Inc.  Indianapolis Indiana"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3776-5053","authenticated-orcid":false,"given":"Ahmed K.","family":"Alomari","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Indiana University School of Medicine  Indianapolis Indiana"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,7,4]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-13-3109"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1479-5876-10-179"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12472"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.04.012"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2018.05.005"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e3182498be5"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2013.10.032"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e318263648c"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.910"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2017.2330"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cll.2017.05.003"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-15-0295"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.912"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergen.2018.03.002"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0211507"},{"issue":"4","key":"e_1_2_4_17_1","first-page":"535","article-title":"Germline and somatic BAP1 mutations in high\u2010grade rhabdoid meningiomas","volume":"19","author":"Shankar GM","year":"2017","journal-title":"Neuro\u2010Oncology"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100156"}],"container-title":["Journal of Cutaneous Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcup.13525","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cup.13525","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cup.13525","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cup.13525","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T01:29:05Z","timestamp":1694222945000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cup.13525"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7,4]]},"references-count":17,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2019,11]]}},"alternative-id":["10.1111\/cup.13525"],"URL":"https:\/\/doi.org\/10.1111\/cup.13525","archive":["Portico"],"relation":{},"ISSN":["0303-6987","1600-0560"],"issn-type":[{"type":"print","value":"0303-6987"},{"type":"electronic","value":"1600-0560"}],"subject":[],"published":{"date-parts":[[2019,7,4]]},"assertion":[{"value":"2019-04-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-06-06","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-07-04","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}