Rashmi Kanagal-Shamanna, Anna Puiggros, Isabel Granada, Gordana Raca, Katrina Rack, Mar Mallo, Barbara Dewaele, Adam C. Smith, Yassmine Akkari, Brynn Levy, Robert P. Hasserjian, Adela Cisneros, Marta Salido, Guillermo Garcia-Manero, Hui Yang, M. Anwar Iqbal, Ravindra Kolhe, Francesc Solé, Blanca Espinet
{"title":"整合光学基因组图谱在血液恶性肿瘤的细胞基因组和分子工作:来自国际光学基因组图谱联盟的专家建议","authors":"Rashmi Kanagal-Shamanna, Anna Puiggros, Isabel Granada, Gordana Raca, Katrina Rack, Mar Mallo, Barbara Dewaele, Adam C. Smith, Yassmine Akkari, Brynn Levy, Robert P. Hasserjian, Adela Cisneros, Marta Salido, Guillermo Garcia-Manero, Hui Yang, M. Anwar Iqbal, Ravindra Kolhe, Francesc Solé, Blanca Espinet","doi":"10.1002/ajh.27688","DOIUrl":null,"url":null,"abstract":"<div>\n \n <p>The latest updates to the classification of hematolymphoid malignancies using the World Health Organization (WHO, 5th ed.) and ICC (International Consensus Classification) criteria highlight the critical need for comprehensive and precise cytogenomic data for diagnosis, prognostication, and treatment. This presents significant challenges for clinical laboratories, requiring a complex workflow using multiple assays to detect different types of structural chromosomal variants (copy number changes, fusions, inversions) across the entire genome. Optical genome mapping (OGM) is an advanced cytogenomic tool for genome-wide detection of structural chromosomal alterations at the gene/exon level. Studies demonstrate that OGM facilitates the identification of novel cytogenomic biomarkers, improves risk stratification, and expands therapeutic targets and personalized treatment strategies. OGM is easy to implement and highly accurate in detecting structural variants (SVs) across various diagnostic entities. Consequently, many centers are integrating OGM into the clinical cytogenetic workflow for hematological malignancies. However, systemic clinical adoption has remained limited due to the lack of expert recommendations on clinical indications, testing algorithms, and result interpretation. To address this, experts from the International Consortium for OGM and relevant multidisciplinary fields developed recommendations for the integration of OGM as a standard-of-care cytogenetic assay for the diagnostic workflow in various clinical settings. These recommendations standardize the use of OGM across laboratories, ensure high-quality cytogenetic data, guide clinical trial design and development, and provide a basis for updates to diagnostic and classification models.</p>\n </div>","PeriodicalId":7724,"journal":{"name":"American Journal of Hematology","volume":"100 6","pages":"1029-1048"},"PeriodicalIF":9.9000,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Integration of Optical Genome Mapping in the Cytogenomic and Molecular Work-Up of Hematological Malignancies: Expert Recommendations From the International Consortium for Optical Genome Mapping\",\"authors\":\"Rashmi Kanagal-Shamanna, Anna Puiggros, Isabel Granada, Gordana Raca, Katrina Rack, Mar Mallo, Barbara Dewaele, Adam C. Smith, Yassmine Akkari, Brynn Levy, Robert P. Hasserjian, Adela Cisneros, Marta Salido, Guillermo Garcia-Manero, Hui Yang, M. Anwar Iqbal, Ravindra Kolhe, Francesc Solé, Blanca Espinet\",\"doi\":\"10.1002/ajh.27688\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div>\\n \\n <p>The latest updates to the classification of hematolymphoid malignancies using the World Health Organization (WHO, 5th ed.) and ICC (International Consensus Classification) criteria highlight the critical need for comprehensive and precise cytogenomic data for diagnosis, prognostication, and treatment. This presents significant challenges for clinical laboratories, requiring a complex workflow using multiple assays to detect different types of structural chromosomal variants (copy number changes, fusions, inversions) across the entire genome. Optical genome mapping (OGM) is an advanced cytogenomic tool for genome-wide detection of structural chromosomal alterations at the gene/exon level. Studies demonstrate that OGM facilitates the identification of novel cytogenomic biomarkers, improves risk stratification, and expands therapeutic targets and personalized treatment strategies. OGM is easy to implement and highly accurate in detecting structural variants (SVs) across various diagnostic entities. Consequently, many centers are integrating OGM into the clinical cytogenetic workflow for hematological malignancies. However, systemic clinical adoption has remained limited due to the lack of expert recommendations on clinical indications, testing algorithms, and result interpretation. To address this, experts from the International Consortium for OGM and relevant multidisciplinary fields developed recommendations for the integration of OGM as a standard-of-care cytogenetic assay for the diagnostic workflow in various clinical settings. 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Integration of Optical Genome Mapping in the Cytogenomic and Molecular Work-Up of Hematological Malignancies: Expert Recommendations From the International Consortium for Optical Genome Mapping
The latest updates to the classification of hematolymphoid malignancies using the World Health Organization (WHO, 5th ed.) and ICC (International Consensus Classification) criteria highlight the critical need for comprehensive and precise cytogenomic data for diagnosis, prognostication, and treatment. This presents significant challenges for clinical laboratories, requiring a complex workflow using multiple assays to detect different types of structural chromosomal variants (copy number changes, fusions, inversions) across the entire genome. Optical genome mapping (OGM) is an advanced cytogenomic tool for genome-wide detection of structural chromosomal alterations at the gene/exon level. Studies demonstrate that OGM facilitates the identification of novel cytogenomic biomarkers, improves risk stratification, and expands therapeutic targets and personalized treatment strategies. OGM is easy to implement and highly accurate in detecting structural variants (SVs) across various diagnostic entities. Consequently, many centers are integrating OGM into the clinical cytogenetic workflow for hematological malignancies. However, systemic clinical adoption has remained limited due to the lack of expert recommendations on clinical indications, testing algorithms, and result interpretation. To address this, experts from the International Consortium for OGM and relevant multidisciplinary fields developed recommendations for the integration of OGM as a standard-of-care cytogenetic assay for the diagnostic workflow in various clinical settings. These recommendations standardize the use of OGM across laboratories, ensure high-quality cytogenetic data, guide clinical trial design and development, and provide a basis for updates to diagnostic and classification models.
期刊介绍:
The American Journal of Hematology offers extensive coverage of experimental and clinical aspects of blood diseases in humans and animal models. The journal publishes original contributions in both non-malignant and malignant hematological diseases, encompassing clinical and basic studies in areas such as hemostasis, thrombosis, immunology, blood banking, and stem cell biology. Clinical translational reports highlighting innovative therapeutic approaches for the diagnosis and treatment of hematological diseases are actively encouraged.The American Journal of Hematology features regular original laboratory and clinical research articles, brief research reports, critical reviews, images in hematology, as well as letters and correspondence.