Ioannis Panagopoulos, Kristin Andersen, Isabel Lloret, Ludmila Gorunova, Ingvild Lobmaier
{"title":"肿瘤骨病变中携带t（4;11;14;12）的新型FRMD6::PTH嵌合体（q35;p15;q22;q13）。","authors":"Ioannis Panagopoulos, Kristin Andersen, Isabel Lloret, Ludmila Gorunova, Ingvild Lobmaier","doi":"10.3389/pore.2025.1612096","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Benign fibro-osseous lesions are characterized by the replacement of normal bone with cellular fibrous connective tissue with new bone formation. The published cytogenetic information on these tumors is limited to only few cases. Here, we report the cytogenetic and molecular genetic findings of a fibro-osseous tumor.</p><p><strong>Methods: </strong>A fibro-osseous lesion was investigated for genetic abnormalities using banding cytogenetics, fluorescence <i>in situ</i> hybridization (FISH), RNA sequencing, and direct cycle Sanger sequencing.</p><p><strong>Results: </strong>The karyotype was 46,XX,t(4;11;14;12)(q35;p15;q22;q13)[7]/46,XX [3], with no rearrangement of <i>HMGA2</i>. RNA sequencing revealed two <i>FRMD6::PTH</i> chimeric transcripts, originating from the fusion point 14q22;11p15 of the t(4;11;14;12). In these transcripts, exon 1 of <i>FRMD6</i> fused to either exon 1 or exon 2 of <i>PTH</i>. Direct cycle sequencing confirmed the presence of these <i>FRMD6::PTH</i> chimeric transcripts.</p><p><strong>Conclusion: </strong>This study reports, for the first time, the presence of the <i>FRMD6::PTH</i> chimera in fibro-osseous tumor. In this chimera the expression of the entire coding region of <i>PTH</i> is regulated by the ubiquitously expressed <i>FRMD6</i> gene promoter. Dysregulation of <i>PTH</i> expression may have significant implications for processes regulated by PTH protein.</p>","PeriodicalId":19981,"journal":{"name":"Pathology & Oncology Research","volume":"31 ","pages":"1612096"},"PeriodicalIF":2.3000,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12240868/pdf/","citationCount":"0","resultStr":"{\"title\":\"Novel <i>FRMD6::PTH</i> chimera in tumorous bone lesion carrying a t(4;11;14;12)(q35;p15;q22;q13).\",\"authors\":\"Ioannis Panagopoulos, Kristin Andersen, Isabel Lloret, Ludmila Gorunova, Ingvild Lobmaier\",\"doi\":\"10.3389/pore.2025.1612096\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Benign fibro-osseous lesions are characterized by the replacement of normal bone with cellular fibrous connective tissue with new bone formation. The published cytogenetic information on these tumors is limited to only few cases. Here, we report the cytogenetic and molecular genetic findings of a fibro-osseous tumor.</p><p><strong>Methods: </strong>A fibro-osseous lesion was investigated for genetic abnormalities using banding cytogenetics, fluorescence <i>in situ</i> hybridization (FISH), RNA sequencing, and direct cycle Sanger sequencing.</p><p><strong>Results: </strong>The karyotype was 46,XX,t(4;11;14;12)(q35;p15;q22;q13)[7]/46,XX [3], with no rearrangement of <i>HMGA2</i>. RNA sequencing revealed two <i>FRMD6::PTH</i> chimeric transcripts, originating from the fusion point 14q22;11p15 of the t(4;11;14;12). In these transcripts, exon 1 of <i>FRMD6</i> fused to either exon 1 or exon 2 of <i>PTH</i>. Direct cycle sequencing confirmed the presence of these <i>FRMD6::PTH</i> chimeric transcripts.</p><p><strong>Conclusion: </strong>This study reports, for the first time, the presence of the <i>FRMD6::PTH</i> chimera in fibro-osseous tumor. In this chimera the expression of the entire coding region of <i>PTH</i> is regulated by the ubiquitously expressed <i>FRMD6</i> gene promoter. Dysregulation of <i>PTH</i> expression may have significant implications for processes regulated by PTH protein.</p>\",\"PeriodicalId\":19981,\"journal\":{\"name\":\"Pathology & Oncology Research\",\"volume\":\"31 \",\"pages\":\"1612096\"},\"PeriodicalIF\":2.3000,\"publicationDate\":\"2025-06-26\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12240868/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pathology & Oncology Research\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.3389/pore.2025.1612096\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q3\",\"JCRName\":\"ONCOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pathology & Oncology Research","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3389/pore.2025.1612096","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"ONCOLOGY","Score":null,"Total":0}
Novel FRMD6::PTH chimera in tumorous bone lesion carrying a t(4;11;14;12)(q35;p15;q22;q13).
Background: Benign fibro-osseous lesions are characterized by the replacement of normal bone with cellular fibrous connective tissue with new bone formation. The published cytogenetic information on these tumors is limited to only few cases. Here, we report the cytogenetic and molecular genetic findings of a fibro-osseous tumor.
Methods: A fibro-osseous lesion was investigated for genetic abnormalities using banding cytogenetics, fluorescence in situ hybridization (FISH), RNA sequencing, and direct cycle Sanger sequencing.
Results: The karyotype was 46,XX,t(4;11;14;12)(q35;p15;q22;q13)[7]/46,XX [3], with no rearrangement of HMGA2. RNA sequencing revealed two FRMD6::PTH chimeric transcripts, originating from the fusion point 14q22;11p15 of the t(4;11;14;12). In these transcripts, exon 1 of FRMD6 fused to either exon 1 or exon 2 of PTH. Direct cycle sequencing confirmed the presence of these FRMD6::PTH chimeric transcripts.
Conclusion: This study reports, for the first time, the presence of the FRMD6::PTH chimera in fibro-osseous tumor. In this chimera the expression of the entire coding region of PTH is regulated by the ubiquitously expressed FRMD6 gene promoter. Dysregulation of PTH expression may have significant implications for processes regulated by PTH protein.
期刊介绍：
Pathology & Oncology Research (POR) is an interdisciplinary Journal at the interface of pathology and oncology including the preclinical and translational research, diagnostics and therapy. Furthermore, POR is an international forum for the rapid communication of reviews, original research, critical and topical reports with excellence and novelty. Published quarterly, POR is dedicated to keeping scientists informed of developments on the selected biomedical fields bridging the gap between basic research and clinical medicine. It is a special aim for POR to promote pathological and oncological publishing activity of colleagues in the Central and East European region. The journal will be of interest to pathologists, and a broad range of experimental and clinical oncologists, and related experts. POR is supported by an acknowledged international advisory board and the Arányi Fundation for modern pathology.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
