{"title":"颈髓交界处无色素黑素细胞瘤。","authors":"Bradley Chaharyn, Stephen Yip, John A Maguire","doi":"10.5414/NP301411","DOIUrl":null,"url":null,"abstract":"<p><p>A 64-year-old female with a 1-year history of gait difficulties and right-sided dysesthesias was found to have an intra-axial left-sided exophytic cervicomedullary enhancing mass. Microscopic, immunohistochemical, and ultrastructural findings demonstrated an amelanotic melanocytic neoplasm. Next-generation sequencing with a targeted exomic oncopanel identified a variant of functional significance in the <i>GNA11</i> gene, thus confirming the diagnosis of a primary amelanotic melanocytoma. The crucial distinction from a melanoma was possible by correlating all of these studies that utilize different technologies.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":"41 1","pages":"3-5"},"PeriodicalIF":0.8000,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Amelanotic melanocytoma of the cervicomedullary junction.\",\"authors\":\"Bradley Chaharyn, Stephen Yip, John A Maguire\",\"doi\":\"10.5414/NP301411\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>A 64-year-old female with a 1-year history of gait difficulties and right-sided dysesthesias was found to have an intra-axial left-sided exophytic cervicomedullary enhancing mass. Microscopic, immunohistochemical, and ultrastructural findings demonstrated an amelanotic melanocytic neoplasm. Next-generation sequencing with a targeted exomic oncopanel identified a variant of functional significance in the <i>GNA11</i> gene, thus confirming the diagnosis of a primary amelanotic melanocytoma. The crucial distinction from a melanoma was possible by correlating all of these studies that utilize different technologies.</p>\",\"PeriodicalId\":55251,\"journal\":{\"name\":\"Clinical Neuropathology\",\"volume\":\"41 1\",\"pages\":\"3-5\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2022-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Neuropathology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.5414/NP301411\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Neuropathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.5414/NP301411","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Amelanotic melanocytoma of the cervicomedullary junction.
A 64-year-old female with a 1-year history of gait difficulties and right-sided dysesthesias was found to have an intra-axial left-sided exophytic cervicomedullary enhancing mass. Microscopic, immunohistochemical, and ultrastructural findings demonstrated an amelanotic melanocytic neoplasm. Next-generation sequencing with a targeted exomic oncopanel identified a variant of functional significance in the GNA11 gene, thus confirming the diagnosis of a primary amelanotic melanocytoma. The crucial distinction from a melanoma was possible by correlating all of these studies that utilize different technologies.
期刊介绍:
Clinical Neuropathology appears bi-monthly and publishes reviews and editorials, original papers, short communications and reports on recent advances in the entire field of clinical neuropathology. Papers on experimental neuropathologic subjects are accepted if they bear a close relationship to human diseases. Correspondence (letters to the editors) and current information including book announcements will also be published.