David João, Monica Feltri, Natalie Klubickova, Michal Michal, Denisa Kacerovská, Alena Skálová
{"title":"具有皮脂腺样分化的腮腺导管内癌的分泌变异型:一个神秘实体的形态学和分子谱扩展。","authors":"David João, Monica Feltri, Natalie Klubickova, Michal Michal, Denisa Kacerovská, Alena Skálová","doi":"10.1007/s00428-024-03947-w","DOIUrl":null,"url":null,"abstract":"<p><p>Intraductal carcinoma (IDC) is a rare tumor of the salivary glands. Here, we report a unique case of apocrine IDC of the parotid gland of a 60-year-old male, exhibiting a striking sebaceous-like differentiation. Microscopically, the tumor displayed a papillary growth pattern with apocrine cells (AR-positive; S100/SOX10-negative) and distinct areas harboring clear, vacuolated cells resembling sebaceous cells (CK7/S100/SOX10-positive; AR negative). Molecular genetic analysis revealed mutations in AKT1 and BRAF genes. An AKT1 gene mutation has earlier been described in sclerosing polycystic adenoma (SPA), suggesting a possible link between IDC and SPA, while BRAF V600E mutations were reported in an oncocytic subtype of IDC, but not in the apocrine one. Since IDC is an indolent disease, its recognition is a key to prevent unwarranted overtreatment. Further evidence is needed to determine whether apocrine IDC with sebaceous-like differentiation represents a novel morphological variant of the apocrine subtype of IDC or a novel salivary gland entity.</p>","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4000,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Apocrine variant of intraductal carcinoma of the parotid gland with sebaceous-like differentiation: expanding morphological and molecular spectrum of an enigmatic entity.\",\"authors\":\"David João, Monica Feltri, Natalie Klubickova, Michal Michal, Denisa Kacerovská, Alena Skálová\",\"doi\":\"10.1007/s00428-024-03947-w\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Intraductal carcinoma (IDC) is a rare tumor of the salivary glands. Here, we report a unique case of apocrine IDC of the parotid gland of a 60-year-old male, exhibiting a striking sebaceous-like differentiation. Microscopically, the tumor displayed a papillary growth pattern with apocrine cells (AR-positive; S100/SOX10-negative) and distinct areas harboring clear, vacuolated cells resembling sebaceous cells (CK7/S100/SOX10-positive; AR negative). Molecular genetic analysis revealed mutations in AKT1 and BRAF genes. An AKT1 gene mutation has earlier been described in sclerosing polycystic adenoma (SPA), suggesting a possible link between IDC and SPA, while BRAF V600E mutations were reported in an oncocytic subtype of IDC, but not in the apocrine one. Since IDC is an indolent disease, its recognition is a key to prevent unwarranted overtreatment. Further evidence is needed to determine whether apocrine IDC with sebaceous-like differentiation represents a novel morphological variant of the apocrine subtype of IDC or a novel salivary gland entity.</p>\",\"PeriodicalId\":23514,\"journal\":{\"name\":\"Virchows Archiv\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":3.4000,\"publicationDate\":\"2024-10-24\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Virchows Archiv\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s00428-024-03947-w\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"PATHOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Virchows Archiv","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s00428-024-03947-w","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"PATHOLOGY","Score":null,"Total":0}
Apocrine variant of intraductal carcinoma of the parotid gland with sebaceous-like differentiation: expanding morphological and molecular spectrum of an enigmatic entity.
Intraductal carcinoma (IDC) is a rare tumor of the salivary glands. Here, we report a unique case of apocrine IDC of the parotid gland of a 60-year-old male, exhibiting a striking sebaceous-like differentiation. Microscopically, the tumor displayed a papillary growth pattern with apocrine cells (AR-positive; S100/SOX10-negative) and distinct areas harboring clear, vacuolated cells resembling sebaceous cells (CK7/S100/SOX10-positive; AR negative). Molecular genetic analysis revealed mutations in AKT1 and BRAF genes. An AKT1 gene mutation has earlier been described in sclerosing polycystic adenoma (SPA), suggesting a possible link between IDC and SPA, while BRAF V600E mutations were reported in an oncocytic subtype of IDC, but not in the apocrine one. Since IDC is an indolent disease, its recognition is a key to prevent unwarranted overtreatment. Further evidence is needed to determine whether apocrine IDC with sebaceous-like differentiation represents a novel morphological variant of the apocrine subtype of IDC or a novel salivary gland entity.
期刊介绍:
Manuscripts of original studies reinforcing the evidence base of modern diagnostic pathology, using immunocytochemical, molecular and ultrastructural techniques, will be welcomed. In addition, papers on critical evaluation of diagnostic criteria but also broadsheets and guidelines with a solid evidence base will be considered. Consideration will also be given to reports of work in other fields relevant to the understanding of human pathology as well as manuscripts on the application of new methods and techniques in pathology. Submission of purely experimental articles is discouraged but manuscripts on experimental work applicable to diagnostic pathology are welcomed. Biomarker studies are welcomed but need to abide by strict rules (e.g. REMARK) of adequate sample size and relevant marker choice. Single marker studies on limited patient series without validated application will as a rule not be considered. Case reports will only be considered when they provide substantial new information with an impact on understanding disease or diagnostic practice.