Salaverria Itziar, Siebert Reiner, Mrózek Krzysztof
Institut d'Investigacions Biomèdiques August Pi i Sunyer Barcelona Spain.
Ulm University Medical Center, Ulm University Institute of Human Genetics Albert-Einstein-Allee 11 89081 Ulm Germany.
Med Genet. 2024 Mar 6;36(1):13-20. doi: 10.1515/medgen-2024-2001. eCollection 2024 Apr.
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 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.
在过去的五十年里，染色体分析在白血病和淋巴瘤中发现了反复出现的易位和倒位，这导致了在断点处克隆出有助于肿瘤发生的基因。诸如荧光原位杂交（FISH）、拷贝数（CN）阵列或光学基因组图谱（OGM）等分子细胞遗传学方法补充了标准染色体分析。同时使用细胞遗传学和分子方法，如逆转录聚合酶链反应（RT-PCR）和包括全基因组测序（WGS）在内的下一代测序（NGS），揭示的改变不仅能界定世界卫生组织（WHO）的不同疾病实体，还构成独立的预后因素，其在临床中的应用改善了血液系统肿瘤患者的管理。
