{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T11:20:44Z","timestamp":1788866444829,"version":"build-2803163510"},"reference-count":32,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2020,6,15]],"date-time":"2020-06-15T00:00:00Z","timestamp":1592179200000},"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":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Primary cutaneous signet\u2010ring cell\/histiocytoid carcinoma of the eyelid is a rare and aggressive neoplasm. Fewer than 50 cases have been reported in the literature, and the genetic driving mutations are unknown. Herein, we present a case of this rare disease along with the results of molecular profiling via targeted next\u2010generation sequencing. The patient is an 85\u2010year\u2010old man who presented with left eyelid swelling initially thought to be a chalazion. After no response to incision and drainage and antibiotics, an incisional biopsy was performed. Histopathologic sections revealed a proliferation of cells with signet\u2010ring and histiocytoid morphology arranged singly and in cords infiltrating the dermis, subcutaneous tissue, and muscle. The lesional cells strongly expressed cytoplasmic cytokeratin 7 and nuclear androgen receptor. Next\u2010generation sequencing revealed a<jats:italic>CDH1<\/jats:italic>mutation, which is known to confer signet\u2010ring morphology in other carcinomas. Pathogenic mutations in<jats:italic>NTRK3<\/jats:italic>,<jats:italic>CDKN1B<\/jats:italic>, and<jats:italic>PIK3CA<\/jats:italic>were also detected. To our knowledge, this is the first documented genetic analysis of this rare disease with findings that offer insights into disease pathogenesis and potential therapeutic targets.<\/jats:p>","DOI":"10.1111\/cup.13733","type":"journal-article","created":{"date-parts":[[2020,5,2]],"date-time":"2020-05-02T04:28:35Z","timestamp":1588393715000},"page":"860-864","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Molecular profiling of a primary cutaneous signet\u2010ring cell\/histiocytoid carcinoma of the eyelid"],"prefix":"10.1111","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3816-1542","authenticated-orcid":false,"given":"Shyam S.","family":"Raghavan","sequence":"first","affiliation":[{"name":"Department of Pathology Stanford University School of Medicine Stanford California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Clark","sequence":"additional","affiliation":[{"name":"Department of Pathology Veterans Affairs Palo Alto Health Care System Palo Alto California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine Y.","family":"Louie","sequence":"additional","affiliation":[{"name":"Department of Pathology Veterans Affairs Palo Alto Health Care System Palo Alto California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin C.","family":"Jensen","sequence":"additional","affiliation":[{"name":"Department of Pathology Veterans Affairs Palo Alto Health Care System Palo Alto California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian","family":"Dietrich","sequence":"additional","affiliation":[{"name":"Department of Oncology Veterans Affairs Palo Alto Health Care System Palo Alto California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beth Michelle","family":"Beadle","sequence":"additional","affiliation":[{"name":"Department of Radiation Oncology Stanford University School of Medicine Stanford California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tarek","family":"El\u2010Sawy","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Ophthalmic Plastic and Reconstructive Surgery Division Stanford University School of Medicine Stanford California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fred","family":"Baik","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Head and Neck Surgery Divisions, Stanford University School of Medicine Stanford California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian A.","family":"Kunder","sequence":"additional","affiliation":[{"name":"Department of Pathology Stanford University School of Medicine Stanford California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9099-7227","authenticated-orcid":false,"given":"Ryanne A.","family":"Brown","sequence":"additional","affiliation":[{"name":"Department of Pathology Stanford University School of Medicine Stanford California USA"},{"name":"Department of Pathology Veterans Affairs Palo Alto Health Care System Palo Alto California USA"},{"name":"Department of Dermatology Stanford University School of Medicine Stanford California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,6,15]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/DAD.0b013e3182590ec1"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0463.2008.00880.x"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/DAD.0000000000000564"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.13915"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/DAD.0b013e318264991c"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e318209cac7"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/cup.12061"},{"issue":"9","key":"e_1_2_4_9_1","doi-asserted-by":"crossref","first-page":"19615","DOI":"10.5070\/D3199019615","article-title":"Uncorrectable ptosis: primary cutaneous signet\u2010ring cell carcinoma","volume":"19","author":"Hansen MS","year":"2013","journal-title":"Dermatol Online J"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000372-200110000-00010"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.3109\/01676830.2013.833254"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(96)30426-0"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1159\/000490250"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2013.12.009"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0560.1995.tb01398.x"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.52.317"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2013.02.003"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e318158d6c5"},{"issue":"2","key":"e_1_2_4_19_1","first-page":"177","article-title":"CD138 (syndecan\u20101) expression in health and disease","volume":"29","author":"Palaiologou M","year":"2014","journal-title":"Histol Histopathol"},{"key":"e_1_2_4_20_1","doi-asserted-by":"publisher","DOI":"10.1155\/2015\/796052"},{"issue":"3","key":"e_1_2_4_21_1","first-page":"1106","article-title":"Association of low syndecan\u20101 expression with adverse histopathological parameters in gastric carcinomas","volume":"24","author":"Charchanti A","year":"2019","journal-title":"J BUON"},{"key":"e_1_2_4_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12029-012-9375-4"},{"key":"e_1_2_4_23_1","doi-asserted-by":"publisher","DOI":"10.1177\/030089161009600231"},{"key":"e_1_2_4_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41571-018-0113-0"},{"key":"e_1_2_4_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2019.03.008"},{"key":"e_1_2_4_26_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-19-0372"},{"key":"e_1_2_4_27_1","unstructured":"Mutation overview page NTRK3\u2010p.S701F(Substitution\u2010Missense).https:\/\/cancer.sanger.ac.uk\/cosmic\/mutation\/overview?id=97655360. Accessed January 11 2020.2020."},{"key":"e_1_2_4_28_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1200\/PO.18.00183","article-title":"Analysis of NTRK alterations in pan\u2010cancer adult and pediatric malignancies: implications for NTRK\u2010targeted therapeutics","volume":"2","author":"Okamura R","year":"2018","journal-title":"JCO Precis Oncol"},{"key":"e_1_2_4_29_1","doi-asserted-by":"publisher","DOI":"10.1158\/2159-8290.CD-17-0507"},{"key":"e_1_2_4_30_1","doi-asserted-by":"publisher","DOI":"10.1093\/annonc\/mdw042"},{"key":"e_1_2_4_31_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-016-9869-5"},{"key":"e_1_2_4_32_1","doi-asserted-by":"publisher","DOI":"10.2147\/CMAR.S208818"},{"key":"e_1_2_4_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2018.09.056"}],"container-title":["Journal of Cutaneous Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cup.13733","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cup.13733","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cup.13733","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,5]],"date-time":"2024-08-05T02:23:50Z","timestamp":1722824630000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cup.13733"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6,15]]},"references-count":32,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2020,9]]}},"alternative-id":["10.1111\/cup.13733"],"URL":"https:\/\/doi.org\/10.1111\/cup.13733","archive":["Portico"],"relation":{},"ISSN":["0303-6987","1600-0560"],"issn-type":[{"value":"0303-6987","type":"print"},{"value":"1600-0560","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,6,15]]},"assertion":[{"value":"2020-02-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-04-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-06-15","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}