{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T18:33:01Z","timestamp":1789237981785,"version":"build-2803163510"},"reference-count":27,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"8","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:p>WHO Classification of Skin Tumors, fifth edition (2023) has newly described primary cutaneous NUT carcinoma; however, information on this cancer type remains scarce. Herein, we performed clinicopathologic and genetic analyses of 4 cases. Four elderly women (median age 77\u00a0y, range: 68 to 82\u00a0y) were included. The median tumor size was 12.5 (10 to 40\u00a0mm). Tumors were located on the scalp, temple, thigh, and palm. Two (50%) patients presented with regional lymph node metastases. Neither distant metastasis nor mortality was observed during patient follow-up of 10.5 (3 to 15) months. Sanger, panel DNA and whole-exome RNA sequencing revealed <jats:italic toggle=\"yes\">BRD3::NUTM1<\/jats:italic> (n=2) and <jats:italic toggle=\"yes\">BRD4::NUTM1<\/jats:italic> (n=2) fusions. Histology of <jats:italic toggle=\"yes\">BRD3<\/jats:italic>-rearranged tumors revealed an epidermal connection, relatively small tumor nests, and ductal or intracytoplasmic luminal formation, whereas that of <jats:italic toggle=\"yes\">BRD4<\/jats:italic>-rearranged tumors revealed large solid nests comprising discohesive tumor cells. NUT, cytokeratins, p63, EMA, TRPS1, c-MYB, CD56, and INSM1 were immunoexpressed to varying degrees in all (100%) tumors. Furthermore, diffuse SOX10 expression was common (3\/4, 75%). The literature review of five previously described cases revealed women predominance, no recurrence, frequent <jats:italic toggle=\"yes\">BRD3::NUTM1<\/jats:italic> fusions, and histology of ductoglandular structures. Our study findings and literature suggest elderly women predominance, relatively frequent <jats:italic toggle=\"yes\">BRD3::NUTM1<\/jats:italic> fusions, histopathologic ductoglandular differentiation, absence of abrupt keratinisation, and a characteristic immunoprofile in primary cutaneous NUT carcinoma, unlike in that of other organ. No distant metastasis or disease-associated mortality was seen in all cases with limited follow-up.<\/jats:p>","DOI":"10.1097\/pas.0000000000002240","type":"journal-article","created":{"date-parts":[[2024,5,6]],"date-time":"2024-05-06T10:00:10Z","timestamp":1714989610000},"page":"942-952","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":15,"title":["Primary Cutaneous NUT Carcinoma"],"prefix":"10.1097","volume":"48","author":[{"given":"Keisuke","family":"Goto","sequence":"first","affiliation":[{"name":"Department of Diagnostic Pathology and Cytology"},{"name":"Laboratory of Genomic Pathology, Research Center, Osaka International Cancer Institute"},{"name":"Department of Diagnostic Pathology, Osaka National Hospital, Osaka"},{"name":"Department of Pathology, Tokyo Metropolitan Cancer and Infectious Disease Center Komagome Hospital"},{"name":"Department of Pathology, Itabashi Central Clinical Laboratory"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoji","family":"Kukita","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Hyogo Cancer Center, Akashi"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsunekazu","family":"Hishima","sequence":"additional","affiliation":[{"name":"Department of Pathology, Tokyo Metropolitan Cancer and Infectious Disease Center Komagome Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shigeto","family":"Matsushita","sequence":"additional","affiliation":[{"name":"Department of Dermato-Oncology\/Dermatology, National Hospital Organization Kagoshima Medical Center, Kagoshima"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takuji","family":"Tsuyuki","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Pathology, Kainan Hospital, Yatomi"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kosuke","family":"Makihara","sequence":"additional","affiliation":[{"name":"Department of Surgical Pathology, Kyushu Rosai Hospital, Kitakyushu"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaori","family":"Koga","sequence":"additional","affiliation":[{"name":"Department of Pathology, Fukuoka University Hospital, Fukuoka"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shoko","family":"Mukumoto","sequence":"additional","affiliation":[{"name":"COSMOS Clinic, Yukuhashi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiichiro","family":"Honma","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Pathology and Cytology"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2024,5,6]]},"reference":[{"key":"R1-20250608","first-page":"3327","article-title":"Novel t(15;19)(q15;p13) chromosome 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