Giulia Querzoli, Giovanni Badiali, Francesco Vitali, Achille Tarsitano, Dario De Biase, Liliana Gabrielli, Maria Pia Foschini
{"title":"一名患有线性皮脂腺痣综合征的患者口腔乳头状腺瘤伴有 kras 突变。","authors":"Giulia Querzoli, Giovanni Badiali, Francesco Vitali, Achille Tarsitano, Dario De Biase, Liliana Gabrielli, Maria Pia Foschini","doi":"10.32074/1591-951X-992","DOIUrl":null,"url":null,"abstract":"<p><p>Linear nevus sebaceous syndrome (LNSS) is a rare neurocutaneous syndrome part of the epidermal nevus syndromes group, characterized by the presence of sebaceous nevi and other extracutaneous lesions genetically related to <i>RAS</i> family gene mutations. Sialadenoma papilliferum (SP) is a rare benign intraoral neoplasm which is usually BRAF or HRAS mutated. We report a case of a young female girl diagnosed with a LNSS who developed a SP which had a KRAS mutation. This is the first case of SP with a KRAS mutation in the context of a LNSS.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"116 4","pages":"254-257"},"PeriodicalIF":4.4000,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11460151/pdf/","citationCount":"0","resultStr":"{\"title\":\"Oral sialadenoma papilliferum with kras mutation in a patient with linear nevus sebaceous syndrome.\",\"authors\":\"Giulia Querzoli, Giovanni Badiali, Francesco Vitali, Achille Tarsitano, Dario De Biase, Liliana Gabrielli, Maria Pia Foschini\",\"doi\":\"10.32074/1591-951X-992\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Linear nevus sebaceous syndrome (LNSS) is a rare neurocutaneous syndrome part of the epidermal nevus syndromes group, characterized by the presence of sebaceous nevi and other extracutaneous lesions genetically related to <i>RAS</i> family gene mutations. Sialadenoma papilliferum (SP) is a rare benign intraoral neoplasm which is usually BRAF or HRAS mutated. We report a case of a young female girl diagnosed with a LNSS who developed a SP which had a KRAS mutation. This is the first case of SP with a KRAS mutation in the context of a LNSS.</p>\",\"PeriodicalId\":45893,\"journal\":{\"name\":\"PATHOLOGICA\",\"volume\":\"116 4\",\"pages\":\"254-257\"},\"PeriodicalIF\":4.4000,\"publicationDate\":\"2024-08-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11460151/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"PATHOLOGICA\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.32074/1591-951X-992\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"PATHOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"PATHOLOGICA","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.32074/1591-951X-992","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"PATHOLOGY","Score":null,"Total":0}
Oral sialadenoma papilliferum with kras mutation in a patient with linear nevus sebaceous syndrome.
Linear nevus sebaceous syndrome (LNSS) is a rare neurocutaneous syndrome part of the epidermal nevus syndromes group, characterized by the presence of sebaceous nevi and other extracutaneous lesions genetically related to RAS family gene mutations. Sialadenoma papilliferum (SP) is a rare benign intraoral neoplasm which is usually BRAF or HRAS mutated. We report a case of a young female girl diagnosed with a LNSS who developed a SP which had a KRAS mutation. This is the first case of SP with a KRAS mutation in the context of a LNSS.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
