文章：

光学基因组映射在血液恶性肿瘤标准细胞遗传学检测中的临床应用价值

Clinical Utility of Optical Genome Mapping as an Additional Tool in a Standard Cytogenetic Workup in Hematological Malignancies

原文发布日期：25 April 2025

DOI: 10.3390/cancers17091436

类型: Article

开放获取: 是

英文摘要：

Background and Objective: The primary objective of this study is to evaluate the added value of optical genome mapping (OGM) when integrated into the standard cytogenetic workup (SCGW) for hematological malignancies. Methods: The study cohort comprised 519 cases with different types of hematological malignancies. OGM and SCGW (including G-banded karyotyping and fluorescence in situ hybridization) were performed on blood and/or bone marrow. The analytical sensitivity of OGM, defined as the detection of all additional cytogenomic aberrations, and its clinical utility, referring to aberrations with diagnostic, prognostic, or therapeutic significance, were assessed. Results: OGM led to increased analytical sensitivity and clinical utility in 58% and 15% of the cases, respectively. The clinical utility varied across different malignancies, with the highest utility in T-lymphoblast leukemia (52%), followed by mixed phenotype acute leukemia (43%), B-lymphoblastic leukemia (37%), other B-cell lymphomas (22%), mature T-cell leukemia/lymphoma (20%), chronic lymphocytic leukemia (14%), acute myeloid leukemia (13%), multiple myeloma (13%), mantle cell lymphoma (8%), myelodysplastic/myeloproliferative neoplasms (6%), myelodysplastic syndrome (5%), and myeloproliferative neoplasms (0%). Conclusion: Compared to SCGW, OGM detects additional cytogenomic aberrations in approximately 58% of cases. OGM provides clinical utility at varying rates across different types of hematological malignancies. Given these differences, strategic triaging can help maximize the clinical value of OGM by focusing on diseases where it offers the most significant benefit.

摘要翻译： 

背景与目的：本研究的主要目的是评估光学基因组图谱技术整合至血液系统恶性肿瘤标准细胞遗传学检测流程中的附加价值。方法：研究队列包含519例不同类型的血液系统恶性肿瘤病例。对血液和/或骨髓样本同时进行光学基因组图谱检测及标准细胞遗传学检测（包括G显带核型分析和荧光原位杂交）。评估了光学基因组图谱的分析灵敏度（定义为检测所有额外细胞基因组异常的能力）及其临床效用（指具有诊断、预后或治疗意义的异常检出情况）。结果：光学基因组图谱分别使58%和15%的病例获得了分析灵敏度与临床效用的提升。临床效用在不同类型恶性肿瘤中存在差异：T淋巴母细胞白血病中效用最高（52%），其次为混合表型急性白血病（43%）、B淋巴母细胞白血病（37%）、其他B细胞淋巴瘤（22%）、成熟T细胞白血病/淋巴瘤（20%）、慢性淋巴细胞白血病（14%）、急性髓系白血病（13%）、多发性骨髓瘤（13%）、套细胞淋巴瘤（8%）、骨髓增生异常/骨髓增殖性肿瘤（6%）、骨髓增生异常综合征（5%），而骨髓增殖性肿瘤中未显示临床效用（0%）。结论：与标准细胞遗传学检测相比，光学基因组图谱能在约58%的病例中检测到额外的细胞基因组异常。该技术在不同类型血液系统恶性肿瘤中呈现出差异化的临床效用率。鉴于这些差异，通过战略性地优先检测获益最显著的疾病类型，可帮助最大化光学基因组图谱的临床价值。

原文链接：

Clinical Utility of Optical Genome Mapping as an Additional Tool in a Standard Cytogenetic Workup in Hematological Malignancies