Wangzhao Song, Eva van den Berg, Thomas C Kwee, Paul C Jutte, Anne-Marie Cleton-Jansen, Judith V M G Bovée, Albert J Suurmeijer
{"title":"通过基因分析可将低级别中枢成纤维性骨肉瘤与其相似的结缔组织增生纤维瘤区分开来。","authors":"Wangzhao Song, Eva van den Berg, Thomas C Kwee, Paul C Jutte, Anne-Marie Cleton-Jansen, Judith V M G Bovée, Albert J Suurmeijer","doi":"10.1186/s13569-018-0104-z","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>We studied two cases of rare fibrous bone tumors, namely desmoplastic fibroma (DF) and low-grade central osteosarcoma (LGCOS) resembling desmoplastic fibroma (DF-like LGCOS). As the clinical presentation, imaging features and histopathology of DF and DF-like LGOS show much overlap, the objective of this study was to investigate the value of cytogenetic analysis, molecular pathology and immunohistochemistry in discrimination of these two mimickers.</p><p><strong>Case presentation: </strong>A mutation in <i>CTNNB</i> (S45F) and nuclear beta-catenin immunostaining were observed in DF. DF-LGCOS had amplification of <i>CDK4</i> and showed strong nuclear expression of CDK4 by IHC. Moreover, the karyotype of DF-LGCOS showed an interstitial heterozygous deletion of the long arm of chromosome 13 (q12q32), associated with loss of the <i>RB1</i> tumor suppressor gene.</p><p><strong>Conclusions: </strong>Karyotyping and molecular genetic analysis may contribute to a conclusive diagnosis.</p>","PeriodicalId":10684,"journal":{"name":"Clinical Sarcoma Research","volume":"8 ","pages":"16"},"PeriodicalIF":0.0000,"publicationDate":"2018-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s13569-018-0104-z","citationCount":"8","resultStr":"{\"title\":\"Low-grade central fibroblastic osteosarcoma may be differentiated from its mimicker desmoplastic fibroma by genetic analysis.\",\"authors\":\"Wangzhao Song, Eva van den Berg, Thomas C Kwee, Paul C Jutte, Anne-Marie Cleton-Jansen, Judith V M G Bovée, Albert J Suurmeijer\",\"doi\":\"10.1186/s13569-018-0104-z\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>We studied two cases of rare fibrous bone tumors, namely desmoplastic fibroma (DF) and low-grade central osteosarcoma (LGCOS) resembling desmoplastic fibroma (DF-like LGCOS). As the clinical presentation, imaging features and histopathology of DF and DF-like LGOS show much overlap, the objective of this study was to investigate the value of cytogenetic analysis, molecular pathology and immunohistochemistry in discrimination of these two mimickers.</p><p><strong>Case presentation: </strong>A mutation in <i>CTNNB</i> (S45F) and nuclear beta-catenin immunostaining were observed in DF. DF-LGCOS had amplification of <i>CDK4</i> and showed strong nuclear expression of CDK4 by IHC. Moreover, the karyotype of DF-LGCOS showed an interstitial heterozygous deletion of the long arm of chromosome 13 (q12q32), associated with loss of the <i>RB1</i> tumor suppressor gene.</p><p><strong>Conclusions: </strong>Karyotyping and molecular genetic analysis may contribute to a conclusive diagnosis.</p>\",\"PeriodicalId\":10684,\"journal\":{\"name\":\"Clinical Sarcoma Research\",\"volume\":\"8 \",\"pages\":\"16\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2018-08-23\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1186/s13569-018-0104-z\",\"citationCount\":\"8\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Sarcoma Research\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1186/s13569-018-0104-z\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2018/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Sarcoma Research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1186/s13569-018-0104-z","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2018/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
Low-grade central fibroblastic osteosarcoma may be differentiated from its mimicker desmoplastic fibroma by genetic analysis.
Background: We studied two cases of rare fibrous bone tumors, namely desmoplastic fibroma (DF) and low-grade central osteosarcoma (LGCOS) resembling desmoplastic fibroma (DF-like LGCOS). As the clinical presentation, imaging features and histopathology of DF and DF-like LGOS show much overlap, the objective of this study was to investigate the value of cytogenetic analysis, molecular pathology and immunohistochemistry in discrimination of these two mimickers.
Case presentation: A mutation in CTNNB (S45F) and nuclear beta-catenin immunostaining were observed in DF. DF-LGCOS had amplification of CDK4 and showed strong nuclear expression of CDK4 by IHC. Moreover, the karyotype of DF-LGCOS showed an interstitial heterozygous deletion of the long arm of chromosome 13 (q12q32), associated with loss of the RB1 tumor suppressor gene.
Conclusions: Karyotyping and molecular genetic analysis may contribute to a conclusive diagnosis.
期刊介绍：
Clinical Sarcoma Research considers for publication articles related to research on sarcomas, including both soft tissue and bone. The journal publishes original articles and review articles on the diagnosis and treatment of sarcomas along with new insights in sarcoma research, which may be of immediate or future interest for diagnosis and treatment. The journal also considers negative results, especially those from studies on new agents, as it is vital for the medical community to learn whether new agents have been proven effective or ineffective within subtypes of sarcomas. The journal also aims to offer a forum for active discussion on topics of major interest for the sarcoma community, which may be related to both research results and methodological topics.
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