Cheryl M. Coffin , Carol Beadling , Tanaya Neff , Christopher L. Corless , Jessica L. Davis
{"title":"具有新型RAF1重排的婴儿纤维肉瘤:调和经典形态学与新型分子遗传学的当代挑战","authors":"Cheryl M. Coffin , Carol Beadling , Tanaya Neff , Christopher L. Corless , Jessica L. Davis","doi":"10.1016/j.ehpc.2020.200434","DOIUrl":null,"url":null,"abstract":"<div><p>Since the discovery of the <em>ETV6-NTRK3</em> gene fusion in infantile fibrosarcoma two decades ago, it has become an important diagnostic marker because it is found in the majority of cases. However, the development of new molecular tests, including next generation sequencing, has uncovered additional gene fusions and other oncogenic mutations in tumors with the clinical and morphologic features of infantile fibrosarcoma. We present a case of infantile fibrosarcoma harboring a novel <em>BMPR1A-RAF1</em> fusion and having a favorable outcome 6 years after surgery. This new structural alteration adds to the list of genetic aberrations in infantile fibrosarcoma and provides another example of the challenge of reconciling classic morphology with novel molecular genetics.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2020-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2020.200434","citationCount":"13","resultStr":"{\"title\":\"Infantile fibrosarcoma with a novel RAF1 rearrangement: The contemporary challenge of reconciling classic morphology with novel molecular genetics\",\"authors\":\"Cheryl M. Coffin , Carol Beadling , Tanaya Neff , Christopher L. Corless , Jessica L. Davis\",\"doi\":\"10.1016/j.ehpc.2020.200434\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>Since the discovery of the <em>ETV6-NTRK3</em> gene fusion in infantile fibrosarcoma two decades ago, it has become an important diagnostic marker because it is found in the majority of cases. However, the development of new molecular tests, including next generation sequencing, has uncovered additional gene fusions and other oncogenic mutations in tumors with the clinical and morphologic features of infantile fibrosarcoma. We present a case of infantile fibrosarcoma harboring a novel <em>BMPR1A-RAF1</em> fusion and having a favorable outcome 6 years after surgery. This new structural alteration adds to the list of genetic aberrations in infantile fibrosarcoma and provides another example of the challenge of reconciling classic morphology with novel molecular genetics.</p></div>\",\"PeriodicalId\":38075,\"journal\":{\"name\":\"Human Pathology: Case Reports\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-11-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/j.ehpc.2020.200434\",\"citationCount\":\"13\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Human Pathology: Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2214330020300833\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Human Pathology: Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2214330020300833","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
Infantile fibrosarcoma with a novel RAF1 rearrangement: The contemporary challenge of reconciling classic morphology with novel molecular genetics
Since the discovery of the ETV6-NTRK3 gene fusion in infantile fibrosarcoma two decades ago, it has become an important diagnostic marker because it is found in the majority of cases. However, the development of new molecular tests, including next generation sequencing, has uncovered additional gene fusions and other oncogenic mutations in tumors with the clinical and morphologic features of infantile fibrosarcoma. We present a case of infantile fibrosarcoma harboring a novel BMPR1A-RAF1 fusion and having a favorable outcome 6 years after surgery. This new structural alteration adds to the list of genetic aberrations in infantile fibrosarcoma and provides another example of the challenge of reconciling classic morphology with novel molecular genetics.