PDF(Pubmed)
Abstract：
Cytogenetic studies are essential in the diagnosis and follow up of patients with bone marrow failure syndromes (BMFSs), but obtaining good quality results is often challenging due to hypocellularity. Optical Genome Mapping (OGM), a novel technology capable of detecting most types chromosomal structural variants (SVs) at high resolution, is being increasingly used in many settings, including hematologic malignancies. Herein, we compared conventional cytogenetic techniques to OGM in 20 patients with diverse BMFSs. Twenty metaphases for the karyotype were only obtained in three subjects (15%), and no SVs were found in any of the samples. One patient with culture failure showed a gain in chromosome 1q by fluorescence in situ hybridization, which was confirmed by OGM. In contrast, OGM provided good quality results in all subjects, and SVs were detected in 14 of them (70%), mostly corresponding to cryptic submicroscopic alterations not observed by standard techniques. Therefore, OGM emerges as a powerful tool that provides complete and evaluable results in hypocellular BMFSs, reducing multiple tests into a single assay and overcoming some of the main limitations of conventional techniques. Furthermore, in addition to confirming the abnormalities detected by conventional techniques, OGM found new alterations beyond their detection limits.
摘要：
细胞遗传学研究对于骨髓衰竭综合征（BMFSs）患者的诊断和随访至关重要。但是由于细胞不足，获得高质量的结果通常是具有挑战性的。光学基因组作图(OGM),一种能够以高分辨率检测大多数类型染色体结构变异（SV）的新技术，越来越多地在许多环境中使用，包括恶性血液病.在这里，我们比较了20例不同BMFSs患者的常规细胞遗传学技术和OGM。仅在三名受试者（15％）中获得了20个核型中期，并且在任何样品中均未发现SV。一名培养失败的患者通过荧光原位杂交显示染色体1q增加，OGM证实了这一点。相比之下,OGM在所有科目中都提供了良好的质量结果，在其中14个(70%)中检测到SV，主要对应于标准技术未观察到的隐秘亚显微改变。因此,OGM成为一种强大的工具，可在低细胞BMFSs中提供完整且可评估的结果，减少多个测试到一个单一的测定和克服一些传统技术的主要限制。此外，除了确认常规技术检测到的异常之外，OGM发现了超出检测极限的新变化。
