Díaz-González Álvaro, Mora Elvira, Avetisyan Gayane, Furió Santiago, De la Puerta Rosalía, Gil José Vicente, Liquori Alessandro, Villamón Eva, García-Hernández Carmen, Santiago Marta, García-Ruiz Cristian, Llop Marta, Ferrer-Lores Blanca, Barragán Eva, García-Palomares Silvia, Mayordomo Empar, Luna Irene, Vicente Ana, Cordón Lourdes, Senent Leonor, Álvarez-Larrán Alberto, Cervera José, De la Rubia Javier, Hernández-Boluda Juan Carlos, Such Esperanza
Hematology Research Group, Instituto de Investigación Sanitaria La Fe, 46026 Valencia, Spain.
Department of Hematology, Hospital Universitario y Politécnico La Fe, 46026 Valencia, Spain.
Cancers (Basel). 2023 Jun 2;15(11):3039. doi: 10.3390/cancers15113039.
Cytogenetic assessment in myelofibrosis is essential for risk stratification and patient management. However, an informative karyotype is unavailable in a significant proportion of patients. Optical genome mapping (OGM) is a promising technique that allows for a high-resolution assessment of chromosomal aberrations (structural variants, copy number variants, and loss of heterozygosity) in a single workflow. In this study, peripheral blood samples from a series of 21 myelofibrosis patients were analyzed via OGM. We assessed the clinical impact of the application of OGM for disease risk stratification using the DIPSS-plus, GIPSS, and MIPSS70+v2 prognostic scores compared with the standard-of-care approach. OGM, in combination with NGS, allowed for risk classification in all cases, compared to only 52% when conventional techniques were used. Cases with unsuccessful karyotypes ( = 10) using conventional techniques were fully characterized using OGM. In total, 19 additional cryptic aberrations were identified in 9 out of 21 patients (43%). No alterations were found via OGM in 4/21 patients with previously normal karyotypes. OGM upgraded the risk category for three patients with available karyotypes. This is the first study using OGM in myelofibrosis. Our data support that OGM is a valuable tool that can greatly contribute to improve disease risk stratification in myelofibrosis patients.
骨髓纤维化的细胞遗传学评估对于风险分层和患者管理至关重要。然而，相当一部分患者无法获得信息丰富的核型。光学基因组图谱（OGM）是一种很有前景的技术，它能够在单个工作流程中对染色体畸变（结构变异、拷贝数变异和杂合性缺失）进行高分辨率评估。在本研究中，我们通过OGM分析了一系列21例骨髓纤维化患者的外周血样本。我们使用DIPSS-plus、GIPSS和MIPSS70+v2预后评分，与标准治疗方法相比，评估了OGM应用于疾病风险分层的临床影响。与仅使用传统技术时52%的情况相比，OGM结合NGS能够对所有病例进行风险分类。使用传统技术核型分析失败的病例（n = 10）通过OGM得到了全面的特征描述。总共在21例患者中的9例（43%）中发现了19个额外的隐匿性畸变。在21例之前核型正常的患者中，有4例通过OGM未发现改变。OGM提升了3例有可用核型患者的风险类别。这是第一项在骨髓纤维化中使用OGM的研究。我们的数据支持OGM是一种有价值的工具，能够极大地有助于改善骨髓纤维化患者的疾病风险分层。
