Mohammad Sadic, Alexander Hien Vu, Erol Bayraktar, Naomi Strubel, Sheel Sharma, Francine Blei, George Jour, Sandra Tomita
{"title":"类似血管畸形的小儿神经营养酪氨酸受体激酶重排肿瘤","authors":"Mohammad Sadic, Alexander Hien Vu, Erol Bayraktar, Naomi Strubel, Sheel Sharma, Francine Blei, George Jour, Sandra Tomita","doi":"10.1097/jova.0000000000000090","DOIUrl":null,"url":null,"abstract":"Pediatric neurotrophic tyrosine receptor kinase-rearranged spindle cell neoplasms are soft tissue neoplasms whose behaviors are not well understood. We provide a case presentation of such a tumor sharing features of a vascular malformation. Our patient is an 11-year-old female referred for a lesion clinically and radiologically concerning for a vascular tumor or malformation. Upon excision, next-generation sequencing revealed a laminA-neurotrophic tyrosine receptor kinase 1 fusion. Neurotrophic tyrosine receptor kinase-rearranged spindle cell neoplasms represent an emerging entity in children now being diagnosed with a variety of techniques including immunohistochemistry, fluorescence in situ hybridization, and next-generation sequencing. Consideration for this tumor should be in the differential diagnosis of vascular skin lesions with unusual features on physical examination.","PeriodicalId":74008,"journal":{"name":"Journal of vascular anomalies","volume":"501 ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Pediatric Neurotrophic Tyrosine Receptor Kinase-rearranged Neoplasm Resembling a Vascular Malformation\",\"authors\":\"Mohammad Sadic, Alexander Hien Vu, Erol Bayraktar, Naomi Strubel, Sheel Sharma, Francine Blei, George Jour, Sandra Tomita\",\"doi\":\"10.1097/jova.0000000000000090\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Pediatric neurotrophic tyrosine receptor kinase-rearranged spindle cell neoplasms are soft tissue neoplasms whose behaviors are not well understood. We provide a case presentation of such a tumor sharing features of a vascular malformation. Our patient is an 11-year-old female referred for a lesion clinically and radiologically concerning for a vascular tumor or malformation. Upon excision, next-generation sequencing revealed a laminA-neurotrophic tyrosine receptor kinase 1 fusion. Neurotrophic tyrosine receptor kinase-rearranged spindle cell neoplasms represent an emerging entity in children now being diagnosed with a variety of techniques including immunohistochemistry, fluorescence in situ hybridization, and next-generation sequencing. Consideration for this tumor should be in the differential diagnosis of vascular skin lesions with unusual features on physical examination.\",\"PeriodicalId\":74008,\"journal\":{\"name\":\"Journal of vascular anomalies\",\"volume\":\"501 \",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of vascular anomalies\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1097/jova.0000000000000090\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of vascular anomalies","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1097/jova.0000000000000090","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Pediatric Neurotrophic Tyrosine Receptor Kinase-rearranged Neoplasm Resembling a Vascular Malformation
Pediatric neurotrophic tyrosine receptor kinase-rearranged spindle cell neoplasms are soft tissue neoplasms whose behaviors are not well understood. We provide a case presentation of such a tumor sharing features of a vascular malformation. Our patient is an 11-year-old female referred for a lesion clinically and radiologically concerning for a vascular tumor or malformation. Upon excision, next-generation sequencing revealed a laminA-neurotrophic tyrosine receptor kinase 1 fusion. Neurotrophic tyrosine receptor kinase-rearranged spindle cell neoplasms represent an emerging entity in children now being diagnosed with a variety of techniques including immunohistochemistry, fluorescence in situ hybridization, and next-generation sequencing. Consideration for this tumor should be in the differential diagnosis of vascular skin lesions with unusual features on physical examination.