PDF(Pubmed)
Abstract：
During the last five decades, chromosome analysis identified recurring translocations and inversions in leukemias and lymphomas, which led to cloning of genes at the breakpoints that contribute to oncogenesis. Such molecular cytogenetic methods as fluorescence in situ hybridization (FISH), copy number (CN) arrays or optical genome mapping (OGM) have augmented standard chromosome analysis. The use of both cytogenetic and molecular methods, such as reverse transcription-polymerase chain reaction (RT-PCR) and next generation sequencing (NGS), including whole-genome sequencing (WGS), discloses alterations that not only delineate separate WHO disease entities but also constitute independent prognostic factors, whose use in the clinic improves management of patients with hematologic neoplasms.
摘要：
在过去的五十年里，染色体分析确定了白血病和淋巴瘤中的复发性易位和倒置，这导致了在断点处克隆有助于肿瘤发生的基因。这种分子细胞遗传学方法，如荧光原位杂交(FISH)，拷贝数（CN）阵列或光学基因组作图（OGM）具有增强的标准染色体分析。使用细胞遗传学和分子方法，如逆转录聚合酶链反应（RT-PCR）和下一代测序（NGS），包括全基因组测序（WGS），公开的改变不仅描述了单独的WHO疾病实体，而且构成了独立的预后因素，其在临床中的使用改善了血液肿瘤患者的管理。
