[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"detail-sidebar-cat-0-en-105":3,"doc-seo-354475-105":59,"doc-detail-354475-en":130},{"code":4,"msg":5,"data":6},0,"success",[7,13,18,23,28,33,38,43,48,51,55],{"id":8,"doc_module":4,"doc_module_name":9,"category_name":10,"show_sort_weight":11,"slug":12},1,"Document","Story & Novel",90,"story-novel",{"id":14,"doc_module":4,"doc_module_name":9,"category_name":15,"show_sort_weight":16,"slug":17},2,"Literature",80,"literature",{"id":19,"doc_module":4,"doc_module_name":9,"category_name":20,"show_sort_weight":21,"slug":22},4,"Exam",70,"exam",{"id":24,"doc_module":4,"doc_module_name":9,"category_name":25,"show_sort_weight":26,"slug":27},5,"Comic",60,"comic",{"id":29,"doc_module":4,"doc_module_name":9,"category_name":30,"show_sort_weight":31,"slug":32},6,"Technology",50,"technology",{"id":34,"doc_module":4,"doc_module_name":9,"category_name":35,"show_sort_weight":36,"slug":37},7,"Healthcare",40,"healthcare",{"id":39,"doc_module":4,"doc_module_name":9,"category_name":40,"show_sort_weight":41,"slug":42},8,"Research & Report",30,"research-report",{"id":44,"doc_module":4,"doc_module_name":9,"category_name":45,"show_sort_weight":46,"slug":47},9,"Religion & Spirituality",20,"religion-spirituality",{"id":46,"doc_module":4,"doc_module_name":9,"category_name":49,"show_sort_weight":46,"slug":50},"World Cup","world-cup",{"id":52,"doc_module":4,"doc_module_name":9,"category_name":53,"show_sort_weight":52,"slug":54},10,"Lifestyle","lifestyle",{"id":56,"doc_module":4,"doc_module_name":9,"category_name":57,"show_sort_weight":24,"slug":58},19,"General","general",{"code":4,"msg":60,"data":61},"ok",{"site_id":62,"language":63,"slug":64,"title":65,"keywords":66,"description":67,"schema_data":68,"social_meta":123,"head_meta":125,"extra_data":127,"updated_unix":129},105,"en","molecular-evolution-of-mosaic-chromosome-18-copy-number-alterations-from-gametes-to-hepatoblastoma","Molecular evolution of mosaic chromosome 18 copy-number alterations from gametes to hepatoblastoma","","Mosaic supernumerary derivative chromosome 18 was investigated in a female patient with multiple developmental delays and hepatoblastoma. The study combines FISH, whole genome sequencing, and single-nucleus RNA sequencing to track copy-number evolution across gametogenesis, development, and tumorigenesis. The der(18) was detected in 10% of liver and blood cells and in 100% of tumor cells, indicating a pre-zygotic origin. Integrated analyses resolve eight-breakpoint rearrangements and reconstruct cancer emergence from mosaic lineages.",{"@graph":69,"@context":122},[70,84,105],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/molecular-evolution-of-mosaic-chromosome-18-copy-number-alterations-from-gametes-to-hepatoblastoma/354475/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/molecular-evolution-of-mosaic-chromosome-18-copy-number-alterations-from-gametes-to-hepatoblastoma/354475.png","ImageObject",300,407,{"name":92,"@type":93},"Guten tag","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-09-27","2026-09-22",true,{"@type":102,"interactionType":103,"userInteractionCount":24},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"What clinical condition is connected to mosaic chromosome 18 in this study?","Question",{"text":112,"@type":113},"The study links a mosaic supernumerary derivative chromosome 18 with developmental delays and hepatoblastoma in a childhood patient diagnosed at age two.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"How did the researchers confirm the presence of the der(18) abnormality?",{"text":117,"@type":113},"They used fluorescent in situ hybridization (FISH) and integrated whole genome sequencing to characterize the der(18) and quantify its presence in liver, blood, and tumor cells.",{"name":119,"@type":110,"acceptedAnswer":120},"What does the study conclude about when the chromosome 18 rearrangement arose?",{"text":121,"@type":113},"Haplotype phasing supports a pre-zygotic origin, with mosaicism arising from early embryonic rescue involving loss of the der(18) after fertilization.","https://schema.org",{"og:url":83,"og:type":124,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":126,"canonical":83},"index,follow",{"doc_id":128,"site_id":62},354475,1790168059,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":24,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":139,"language":140,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":141,"faqs":142,"seo_title":143,"seo_description":67,"update_tm":144,"read_time":41},687212321768,"https://ap-avatar.wpscdn.com/avatar/a0010bdbe886d2fe77?x-image-process=image/resize,m_fixed,w_180,h_180&k=1789897067658708522","Research article  \nMolecular evolution of mosaic chromosome 18 copy-number alterations from gametes to hepatoblastoma  \nAuthors  \nElise Cendres, Marianna Cornet, Zoé Gautier,…, Serge Romana, Isabelle Aerts, Theo Z. Hirsch  \nCorrespondence  \n[serge.romana@aphp.fr](serge.romana@aphp.fr) (S. Romana), [isabelle.aerts@curie.fr](isabelle.aerts@curie.fr) (I. Aerts), [theo.hirsch@inserm.fr](theo.hirsch@inserm.fr) (T.Z. Hirsch).  \nGraphical abstract  \nMosaic chromosome 18 rearrangement at the intersection of development and hepatoblastoma  \nCase report  \nMethods  \nResults  \n\n| \u003Cbr>-Hepatoblastoma\u003Cbr>-Mosaic supernumerary derivative chromosome 18 [der(18)]\u003Cbr>-Alive with no recurrence 32 months after the end of treatment\u003Cbr>\u003Cbr>-Pre-chemotherapy tumor biopsy and blood sample\u003Cbr>-Post-chemotherapy surgical resection tumor sample and non-tumor liver sample | Tumor depth | 100\u003Cbr>50\u003Cbr>30\u003Cbr>U MAP2\u003Cbr>FISH\u003Cbr>\u003Cbr>chr18 der(18) chr18 der(18) chr18 der(18)\u003Cbr>Whole genome sequencing\u003Cbr>\u003Cbr>0 10 20 30 40 50 60 70 80 Chromosome 18 position (Mb)\u003Cbr>Single-nucleus RNAseq\u003Cbr>\u003Cbr>Cell type\u003Cbr> B cells\u003Cbr> T cells\u003Cbr> Myeloid cells\u003Cbr> Fibroblasts\u003Cbr> Cholangiocytes\u003Cbr> Endothelial cells\u003Cbr> Hepatocytes\u003Cbr> Tumor cells\u003Cbr>Complex chromosome 18 rearrangement\u003Cbr>\u003Cbr>Full chr18\u003Cbr>Rearranged der(18)\u003Cbr>Evolution of chromosome 18 ploidy across\u003Cbr>gametogenesis, development and tumorigenesis\u003Cbr>Gametes 23,X  24,X, + der(18)\u003Cbr>\u003Cbr>47,XX, +der(18)  Zygote\u003Cbr>Early loss ~~ ~~\u003Cbr>of der(18) \u003Cbr>46, XX   47,XX, +der(18)\u003Cbr>\u003Cbr>Lineage diversification\u003Cbr>|\n| --- | --- | --- |\n\nThe chromosome 18 rearrangement originated before fertilization, was partially lost during development, but persisted in 100% of tumor cells  \nHighlights:  \n• A child with developmental defects and hepatoblastoma carried a mosaic supernumerary derivative chromosome 18.  \n• Complex chromosome 18 rearrangement with eight breakpoints caused partial tetrasomy.  \n• The rearrangement arose before fertilization but was partially lost during development.  \n• Mosaic cells persisted in multiple lineages and gave rise to the tumor clone.  \n• Multi-omics reconstruction revealed chromosome 18 evolution from zygote to cancer.  \nImpact and implications:  \nThis case study illustrates how a single chromosomal abnormality can influence both human development and cancer formation. By combining genomics and single-cell analyses, we traced the history of a rare chromosome 18 rearrangement from its origin before fertilization to its role in hepatoblastoma, a childhood liver cancer. We found that this abnormal chromosome was present in only a small fraction of normal liver and blood cells, but in all tumor cells, indicating that the cancer arose from one of these mosaic cells. Integrating single-cell and transcriptomic data enabled the prioritization of a restricted set of chromosome 18 candidate genes. This work provides a detailed example of how complex chromosomal alterations can emerge early in life, be selectively lost during development, and still leave a small population of abnormal cells that may later give rise to cancer. These findings highlight the need to consider mosaic chromosomal abnormalities as possible predisposing factors even in patients without obvious genetic syndromes, and they show the value of combining cytogenetic, genomic, and single-cell approaches to understand how cancer can develop from early developmental events.  \nResearch article  \nMolecular evolution of mosaic chromosome 18 copy-number alterations from gametes to hepatoblastoma  \nElise Cendres1 ,†, Marianna Cornet2 ,†, Zoé Gautier2 ,†, Aurore Pire2 , 3 , Noémie Urvoy2 , Guillaume Morcrette2 , 4 , Fatoumata Simaga5 , Anne Guimier6 , Christophe Chardot3 , Carmen Capito3 , Gudrun Schleiermacher7 , Julien Masliah-Planchon5 , 8 , Gaelle Pierron5 , 8 , Ilaria Taddei9 , Dominique Stoppa-Lyonnet10 , Jessica Zucman-Rossi2 , Serge Romana9 , * ,‡, Isabelle Aerts11 , * ,‡, Theo Z. Hirsch2 , * ,‡  \nJHEP Reports 2026. vol. 8 | 1–11  \nBac","cbCaiqHSJogiQhBa","https://ap.wps.com/l/cbCaiqHSJogiQhBa","pdf",10677149,12,"English","# Background & Aims\n# Methods\n# Results\n# Conclusions\n# Highlights","[{\"question\":\"What clinical condition is connected to mosaic chromosome 18 in this study?\",\"answer\":\"The study links a mosaic supernumerary derivative chromosome 18 with developmental delays and hepatoblastoma in a childhood patient diagnosed at age two.\"},{\"question\":\"How did the researchers confirm the presence of the der(18) abnormality?\",\"answer\":\"They used fluorescent in situ hybridization (FISH) and integrated whole genome sequencing to characterize the der(18) and quantify its presence in liver, blood, and tumor cells.\"},{\"question\":\"What does the study conclude about when the chromosome 18 rearrangement arose?\",\"answer\":\"Haplotype phasing supports a pre-zygotic origin, with mosaicism arising from early embryonic rescue involving loss of the der(18) after fertilization.\"}]","Molecular evolution of mosaic chromosome 18 copy-number alterations from gametes to hepatoblastoma | PDF",1790110878]