Emilio Medina-Ceballos, María Niveiro, Laura Ureña-Horno, Marta Sesé, María Tasso, Samuel Navarro, Marta Garrido-Pontnou
{"title":"解码 BCOR-ITD 肉瘤:一种罕见儿科肿瘤的病例报告与诊断挑战。","authors":"Emilio Medina-Ceballos, María Niveiro, Laura Ureña-Horno, Marta Sesé, María Tasso, Samuel Navarro, Marta Garrido-Pontnou","doi":"10.1177/10935266241249344","DOIUrl":null,"url":null,"abstract":"<p><p>Sarcomas characterized by <i>BCOR</i> gene alterations, are a distinct clinico-pathological group of high-grade tumors, that represent 5% of small round cell tumors without <i>EWSR</i> or <i>FUS</i> fusion. Diverse genetic alterations characterize this group, including <i>BCOR-CCNB3</i> gene fusion being the most common alteration and less frequently internal tandem duplications (ITDs). We present a compelling case of a 3-year-old girl diagnosed with a high-grade nasoethmoidal sarcoma exhibiting <i>BCOR</i>-ITD. The diagnostic process illustrates the histological and immunophenotypic spectrum, requiring an extensive immunohistochemical panel and diverse molecular tests for accurate classification. Additionally, this case highlights the challenges in detecting <i>BCOR</i>-ITDs using different NGS panels, advocating for alternative molecular approaches. Our patient after 10 months since diagnosis is alive with progressive disease. This emphasizes the urgency for ongoing research to refine diagnostic methods and develop effective therapeutic strategies for these rare and aggressive tumors.</p>","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":null,"pages":null},"PeriodicalIF":1.3000,"publicationDate":"2024-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Decoding <i>BCOR</i>-ITD Sarcomas: Case Report of a Rare Pediatric Tumor With Challenges in Diagnosis.\",\"authors\":\"Emilio Medina-Ceballos, María Niveiro, Laura Ureña-Horno, Marta Sesé, María Tasso, Samuel Navarro, Marta Garrido-Pontnou\",\"doi\":\"10.1177/10935266241249344\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Sarcomas characterized by <i>BCOR</i> gene alterations, are a distinct clinico-pathological group of high-grade tumors, that represent 5% of small round cell tumors without <i>EWSR</i> or <i>FUS</i> fusion. Diverse genetic alterations characterize this group, including <i>BCOR-CCNB3</i> gene fusion being the most common alteration and less frequently internal tandem duplications (ITDs). We present a compelling case of a 3-year-old girl diagnosed with a high-grade nasoethmoidal sarcoma exhibiting <i>BCOR</i>-ITD. The diagnostic process illustrates the histological and immunophenotypic spectrum, requiring an extensive immunohistochemical panel and diverse molecular tests for accurate classification. Additionally, this case highlights the challenges in detecting <i>BCOR</i>-ITDs using different NGS panels, advocating for alternative molecular approaches. Our patient after 10 months since diagnosis is alive with progressive disease. This emphasizes the urgency for ongoing research to refine diagnostic methods and develop effective therapeutic strategies for these rare and aggressive tumors.</p>\",\"PeriodicalId\":54634,\"journal\":{\"name\":\"Pediatric and Developmental Pathology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.3000,\"publicationDate\":\"2024-05-19\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatric and Developmental Pathology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1177/10935266241249344\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"PATHOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric and Developmental Pathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1177/10935266241249344","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"PATHOLOGY","Score":null,"Total":0}
Decoding BCOR-ITD Sarcomas: Case Report of a Rare Pediatric Tumor With Challenges in Diagnosis.
Sarcomas characterized by BCOR gene alterations, are a distinct clinico-pathological group of high-grade tumors, that represent 5% of small round cell tumors without EWSR or FUS fusion. Diverse genetic alterations characterize this group, including BCOR-CCNB3 gene fusion being the most common alteration and less frequently internal tandem duplications (ITDs). We present a compelling case of a 3-year-old girl diagnosed with a high-grade nasoethmoidal sarcoma exhibiting BCOR-ITD. The diagnostic process illustrates the histological and immunophenotypic spectrum, requiring an extensive immunohistochemical panel and diverse molecular tests for accurate classification. Additionally, this case highlights the challenges in detecting BCOR-ITDs using different NGS panels, advocating for alternative molecular approaches. Our patient after 10 months since diagnosis is alive with progressive disease. This emphasizes the urgency for ongoing research to refine diagnostic methods and develop effective therapeutic strategies for these rare and aggressive tumors.
期刊介绍:
The Journal covers the spectrum of disorders of early development (including embryology, placentology, and teratology), gestational and perinatal diseases, and all diseases of childhood. Studies may be in any field of experimental, anatomic, or clinical pathology, including molecular pathology. Case reports are published only if they provide new insights into disease mechanisms or new information.