Kanagal-Shamanna Rashmi, Puiggros Anna, Granada Isabel, Raca Gordana, Rack Katrina, Mallo Mar, Dewaele Barbara, Smith Adam C, Akkari Yassmine, Levy Brynn, Hasserjian Robert P, Cisneros Adela, Salido Marta, Garcia-Manero Guillermo, Yang Hui, Iqbal M Anwar, Kolhe Ravindra, Solé Francesc, Espinet Blanca
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
Molecular Cytogenetics Laboratory, Pathology Department, Hospital del Mar, Barcelona, Spain.
Am J Hematol. 2025 Jun;100(6):1029-1048. doi: 10.1002/ajh.27688. Epub 2025 Apr 30.
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.
使用世界卫生组织（WHO，第5版）和国际共识分类（ICC）标准对血液淋巴系统恶性肿瘤进行分类的最新更新强调了对于诊断、预后评估和治疗而言，全面且精确的细胞基因组数据至关重要。这给临床实验室带来了重大挑战，需要采用复杂的工作流程，使用多种检测方法来检测全基因组中不同类型的染色体结构变异（拷贝数变化、融合、倒位）。光学基因组图谱（OGM）是一种先进的细胞基因组工具，可在基因/外显子水平对全基因组的染色体结构改变进行检测。研究表明，OGM有助于识别新的细胞基因组生物标志物，改善风险分层，并扩展治疗靶点和个性化治疗策略。OGM易于实施，在检测各种诊断实体中的结构变异（SVs）时具有高度准确性。因此，许多中心正在将OGM纳入血液系统恶性肿瘤的临床细胞遗传学工作流程。然而，由于缺乏关于临床适应症、检测算法和结果解读的专家建议，其在临床上的全面应用仍然有限。为解决这一问题，OGM国际联盟及相关多学科领域的专家制定了相关建议，将OGM作为一种标准的细胞遗传学检测方法纳入各种临床环境的诊断工作流程。这些建议规范了OGM在各实验室的使用，确保高质量的细胞遗传学数据，指导临床试验的设计与开展，并为诊断和分类模型的更新提供依据。
