[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"detail-sidebar-cat-0-en-105":3,"doc-seo-382997-105":59,"doc-detail-382997-en":131},{"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":124,"head_meta":126,"extra_data":128,"updated_unix":130},105,"en","enhanced-clinical-assessment-of-hematologic-malignancies-through-routine-paired-tumor-and-normal-sequencing","Enhanced clinical assessment of hematologic malignancies through routine paired tumor and normal sequencing","","Enhanced clinical assessment of hematologic malignancies focuses on overcoming the limits of tumor-only sequencing, which can leave somatic variant identification uncertain and complicate clinical reporting and treatment decisions. The MSK-IMPACT Heme cohort provides comprehensive somatic alteration profiles from paired tumor and normal DNA using hybridization capture next-generation sequencing. The study characterizes mutation patterns, copy number alterations, and mutation signatures across myeloid and lymphoid neoplasms, and demonstrates that proper matching enables definitive somatic calls, including after allogeneic stem cell transplant.",{"@graph":69,"@context":123},[70,84,106],{"@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/enhanced-clinical-assessment-of-hematologic-malignancies-through-routine-paired-tumor-and-normal-sequencing/382997/",{"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/enhanced-clinical-assessment-of-hematologic-malignancies-through-routine-paired-tumor-and-normal-sequencing/382997.png","ImageObject",300,407,{"name":92,"@type":93},"Elsa","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-11-03","2026-09-24",true,{"@type":102,"interactionType":103,"userInteractionCount":105},"InteractionCounter",{"@type":104},"ViewAction",16,{"@type":107,"mainEntity":108},"FAQPage",[109,115,119],{"name":110,"@type":111,"acceptedAnswer":112},"Why does tumor-only sequencing have limitations for hematologic malignancies?","Question",{"text":113,"@type":114},"Tumor-only assays can miss definitive somatic variants, creating ambiguity in clinical reports and patient management.","Answer",{"name":116,"@type":111,"acceptedAnswer":117},"What is the MSK-IMPACT Heme cohort?",{"text":118,"@type":114},"It is a comprehensive dataset of somatic alterations derived from paired tumor and normal DNA using a hybridization capture-based next-generation sequencing platform.",{"name":120,"@type":111,"acceptedAnswer":121},"How does paired matching improve somatic variant calling?",{"text":122,"@type":114},"Appropriate matching enables more definitive somatic calls, including in patients after allogeneic stem cell transplant where host-versus-donor origin and somatic-versus-germline status are difficult.","https://schema.org",{"og:url":83,"og:type":125,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":127,"canonical":83},"index,follow",{"doc_id":129,"site_id":62},382997,1790801515,{"code":4,"msg":5,"data":132},{"doc_id":129,"user_id":133,"nickname":92,"user_avatar":134,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":135,"file_id":136,"file_url":137,"file_type":138,"file_size":139,"view_count":105,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":105,"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":36},137455077381,"https://ap-avatar.wpscdn.com/davatar_994ba38a5ba835b3df7d355c54d3ed8d","Article [https://doi.org/10.1038/s41467-023-42585-9](https://doi.org/10.1038/s41467-023-42585-9)  \nEnhanced clinical assessment of hematologic malignancies through routine paired tumor and normal sequencing  \nReceived: 5 April 2023  \n\n| Accepted: 16 October 2023 |\n| --- |\n| |\n| Check for updates |\n\nRyan N. Ptashkin1,6,10, Mark D. Ewalt 1,10 , Gowtham Jayakumaran1,7, Iwona Kiecka1, Anita S. Bowman 1, JinJuan Yao1, Jacklyn Casanova 1, Yun-Te David Lin1, Kseniya Petrova-Drus 1, Abhinita S. Mohanty1, Ruben Bacares1, Jamal Benhamida 1, Satshil Rana1, Anna Razumova1,  \nChad Vanderbilt 1, Anoop Balakrishnan Rema 1, Ivelise Rijo1, Julie Son-Garcia1, Ino de Bruijn 2, Menglei Zhu1, Sean Lachhander1, Wei Wang1,  \nMohammad S. Haque1, Venkatraman E. Seshan 3, Jiajing Wang1, Ying Liu1, Khedoudja Nafa1, Laetitia Borsu1, Yanming Zhang1, Umut Aypar1,  \nSarah P. Suehnholz2, Debyani Chakravarty 1, Jae H. Park 4,  \nOmar Abdel-Wahab 2,4, Anthony R. Mato4, Wenbin Xiao 1, Mikhail Roshal1, Mariko Yabe1, Connie Lee Batlevi 4, Sergio Giralt4, Gilles Salles 4,  \nRaajit Rampal 1, Martin Tallman4,8, Eytan M. Stein4, Anas Younes 4,9,  \nRoss L. Levine 2,4, Miguel-Angel Perales 4,5, Marcel R. M. van den Brink 2,4, Ahmet Dogan 1, Marc Ladanyi1, Michael F. Berger 1,2, A. Rose Brannon 1, Ryma Benayed1,9, Ahmet Zehir 1,9,10  & Maria E. Arcila 1,10   \nGenomic profiling of hematologic malignancies has augmented our understanding of variants that contribute to disease pathogenesis and supported development of prognostic models that inform disease management in the clinic. Tumor only sequencing assays are limited in their ability to identify definitive somatic variants, which can lead to ambiguity in clinical reporting and patient management. Here, we describe the MSK-IMPACT Heme cohort, a comprehensive data set of somatic alterations from paired tumor and normal DNA using a hybridization capture-based next generation sequencing platform. We highlight patterns of mutations, copy number alterations, and mutation signatures in a broad set of myeloid and lymphoid neoplasms. We also demonstrate the power of appropriate matching to make definitive somatic calls, including in patients who have undergone allogeneic stem cell transplant. We expect that this resource will further spur research into the pathobiology and clinical utility of clinical sequencing for patients with hematologic neoplasms.  \nHematologic malignancies are characterized by the presence of complex and dynamic genomic changes that are now increasingly utilized to classify and define independent disease subsets. With the rapid adoption of next-generation sequencing technology, a multitude of  \nrecurrent somatic alterations in genes regulating cell growth, DNA repair, and differentiation have been identified; these contribute not only to the onset and progression of disease, but also to the development of relapse and resistance to therapy. Genetic profiling has  \nA full list of affiliations appears at the end of the paper. e-mail: [ewaltm@mskcc.org](ewaltm@mskcc.org); [ahmet.zehir@astrazeneca.com](ahmet.zehir@astrazeneca.com); arci[lam@mskcc.org](lam@mskcc.org)  \nhence emerged as a key element in the workup of patients with hematologic malignancies, guiding patient management at various levels. While mutations in certain genes, such as BRAF, CALR,JAK2 and MPL, have diagnostic utility in myeloid neoplasms, for example, others such as CEBPA, DNMT3A, FLT3, IDH1, IDH2, KIT, NPM1, and TP53 have prognostic and/or therapeutic implications, particularly when determining whether a patient should undergo an allogeneic stem cell transplant1,2. Clinically, as the evidence and the repertoire of molecularly targeted therapies for hematologic malignancies continue to expand3–5, so do the challenges and opportunities for molecular profiling to inform tumor classification, prognosis, disease monitoring, and treatment decisions.  \nGiven the growing number of clinically relevant genetic alterations, it has become necessary to develop","cbCaiuZDCqvZ6g6g","https://ap.wps.com/l/cbCaiuZDCqvZ6g6g","pdf",3393678,"English","# Background and motivation\n## Limits of tumor-only sequencing\n## Clinical impact of genomic profiling\n# Study approach: MSK-IMPACT Heme\n## Paired tumor and normal DNA workflow\n## Hybridization capture and high-coverage NGS\n# Results overview\n## Mutation patterns, copy number alterations, and signatures","[{\"question\":\"Why does tumor-only sequencing have limitations for hematologic malignancies?\",\"answer\":\"Tumor-only assays can miss definitive somatic variants, creating ambiguity in clinical reports and patient management.\"},{\"question\":\"What is the MSK-IMPACT Heme cohort?\",\"answer\":\"It is a comprehensive dataset of somatic alterations derived from paired tumor and normal DNA using a hybridization capture-based next-generation sequencing platform.\"},{\"question\":\"How does paired matching improve somatic variant calling?\",\"answer\":\"Appropriate matching enables more definitive somatic calls, including in patients after allogeneic stem cell transplant where host-versus-donor origin and somatic-versus-germline status are difficult.\"}]","Enhanced clinical assessment of hematologic malignancies through routine paired tumor and normal sequencing | PDF",1790253498]