Ioannis Panagopoulos, Kristin Andersen, Ingvild Lobmaier, Marius Lund-Iversen
{"title":"细胞性血管纤维瘤的遗传异质性","authors":"Ioannis Panagopoulos, Kristin Andersen, Ingvild Lobmaier, Marius Lund-Iversen","doi":"10.1002/gcc.23262","DOIUrl":null,"url":null,"abstract":"<div>\n \n \n <section>\n \n <h3> Background</h3>\n \n <p>Cellular angiofibroma, a rare benign mesenchymal neoplasm, is classified within the 13q/RB1 family of tumors due to morphological, immunohistochemical, and genetic similarities with spindle cell lipoma. Here, genetic data reveal pathogenetic heterogeneity in cellular angiofibroma.</p>\n </section>\n \n <section>\n \n <h3> Methods</h3>\n \n <p>Three cellular angiofibromas were studied using G-banding/Karyotyping, array comparative genomic hybridization, RNA sequencing, and direct cycling sequencing.</p>\n </section>\n \n <section>\n \n <h3> Results</h3>\n \n <p>The first tumor carried a del(13)(q12) together with heterozygous loss and minimal expression of the <i>RB1</i> gene. Tumors two and three displayed chromosome 8 abnormalities associated with chimeras of the pleomorphic adenoma gene 1 (<i>PLAG1</i>). In tumor 2, the cathepsin B (<i>CTSB</i>) fused to <i>PLAG1</i> (<i>CTSB::PLAG1</i>) while in tumor 3, the mir-99a-let-7c cluster host gene (<i>MIR99AHG</i>) fused to <i>PLAG1</i> (<i>MIR99AHG::PLAG1</i>), both leading to elevated expression of <i>PLAG1</i> and insulin growth factor 2.</p>\n </section>\n \n <section>\n \n <h3> Conclusion</h3>\n \n <p>This study uncovers two genetic pathways contributing to the pathogenetic heterogeneity within cellular angiofibromas. The first aligns with the 13q/RB1 family of tumors and the second involves <i>PLAG1</i>-chimeras. These findings highlight the diverse genetic landscape of cellular angiofibromas, providing insights into potential diagnostic strategies.</p>\n </section>\n </div>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 8","pages":""},"PeriodicalIF":3.1000,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/gcc.23262","citationCount":"0","resultStr":"{\"title\":\"Genetic Heterogeneity in Cellular Angiofibromas\",\"authors\":\"Ioannis Panagopoulos, Kristin Andersen, Ingvild Lobmaier, Marius Lund-Iversen\",\"doi\":\"10.1002/gcc.23262\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div>\\n \\n \\n <section>\\n \\n <h3> Background</h3>\\n \\n <p>Cellular angiofibroma, a rare benign mesenchymal neoplasm, is classified within the 13q/RB1 family of tumors due to morphological, immunohistochemical, and genetic similarities with spindle cell lipoma. Here, genetic data reveal pathogenetic heterogeneity in cellular angiofibroma.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Methods</h3>\\n \\n <p>Three cellular angiofibromas were studied using G-banding/Karyotyping, array comparative genomic hybridization, RNA sequencing, and direct cycling sequencing.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Results</h3>\\n \\n <p>The first tumor carried a del(13)(q12) together with heterozygous loss and minimal expression of the <i>RB1</i> gene. Tumors two and three displayed chromosome 8 abnormalities associated with chimeras of the pleomorphic adenoma gene 1 (<i>PLAG1</i>). In tumor 2, the cathepsin B (<i>CTSB</i>) fused to <i>PLAG1</i> (<i>CTSB::PLAG1</i>) while in tumor 3, the mir-99a-let-7c cluster host gene (<i>MIR99AHG</i>) fused to <i>PLAG1</i> (<i>MIR99AHG::PLAG1</i>), both leading to elevated expression of <i>PLAG1</i> and insulin growth factor 2.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Conclusion</h3>\\n \\n <p>This study uncovers two genetic pathways contributing to the pathogenetic heterogeneity within cellular angiofibromas. The first aligns with the 13q/RB1 family of tumors and the second involves <i>PLAG1</i>-chimeras. These findings highlight the diverse genetic landscape of cellular angiofibromas, providing insights into potential diagnostic strategies.</p>\\n </section>\\n </div>\",\"PeriodicalId\":12700,\"journal\":{\"name\":\"Genes, Chromosomes & Cancer\",\"volume\":\"63 8\",\"pages\":\"\"},\"PeriodicalIF\":3.1000,\"publicationDate\":\"2024-08-09\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://onlinelibrary.wiley.com/doi/epdf/10.1002/gcc.23262\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Genes, Chromosomes & Cancer\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1002/gcc.23262\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genes, Chromosomes & Cancer","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/gcc.23262","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Cellular angiofibroma, a rare benign mesenchymal neoplasm, is classified within the 13q/RB1 family of tumors due to morphological, immunohistochemical, and genetic similarities with spindle cell lipoma. Here, genetic data reveal pathogenetic heterogeneity in cellular angiofibroma.
Methods
Three cellular angiofibromas were studied using G-banding/Karyotyping, array comparative genomic hybridization, RNA sequencing, and direct cycling sequencing.
Results
The first tumor carried a del(13)(q12) together with heterozygous loss and minimal expression of the RB1 gene. Tumors two and three displayed chromosome 8 abnormalities associated with chimeras of the pleomorphic adenoma gene 1 (PLAG1). In tumor 2, the cathepsin B (CTSB) fused to PLAG1 (CTSB::PLAG1) while in tumor 3, the mir-99a-let-7c cluster host gene (MIR99AHG) fused to PLAG1 (MIR99AHG::PLAG1), both leading to elevated expression of PLAG1 and insulin growth factor 2.
Conclusion
This study uncovers two genetic pathways contributing to the pathogenetic heterogeneity within cellular angiofibromas. The first aligns with the 13q/RB1 family of tumors and the second involves PLAG1-chimeras. These findings highlight the diverse genetic landscape of cellular angiofibromas, providing insights into potential diagnostic strategies.
期刊介绍：
Genes, Chromosomes & Cancer will offer rapid publication of original full-length research articles, perspectives, reviews and letters to the editors on genetic analysis as related to the study of neoplasia. The main scope of the journal is to communicate new insights into the etiology and/or pathogenesis of neoplasia, as well as molecular and cellular findings of relevance for the management of cancer patients. While preference will be given to research utilizing analytical and functional approaches, descriptive studies and case reports will also be welcomed when they offer insights regarding basic biological mechanisms or the clinical management of neoplastic disorders.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
