Abstract：
Molecular analysis is the hallmark of T-cell acute lymphoblastic leukemia (T-ALL) categorization. Several T-ALL sub-groups are well recognized based on the aberrant expression of specific transcription factors. This recently resulted in the implementation of eight provisional T-ALL entities into the novel 2022 International Consensus Classification, albeit not into the updated World Health Organization classification system. Despite this extensive molecular characterization, cytogenetic analysis remains the backbone of T-ALL diagnosis in many countries as chromosome banding analysis and fluorescence in situ hybridization are relatively inexpensive techniques to obtain results of diagnostic, prognostic and therapeutic interest. Here, we provide an overview of recurrent chromosomal abnormalities detectable in T-ALL patients and propose guidelines regarding their detection. By referring in parallel to the more general molecular classification approach, we hope to offer a diagnostic framework useful in a broad clinical genetic setting.
摘要：
分子分析是T细胞急性淋巴细胞白血病（T-ALL）分类的标志。基于特定转录因子的异常表达，可以很好地识别几个T-ALL亚组。这最近导致在新的2022年国际共识分类中实施了八个临时T-ALL实体。尽管没有纳入最新的世界卫生组织分类系统。尽管有这种广泛的分子表征，在许多国家，细胞遗传学分析仍然是T-ALL诊断的支柱，因为染色体带分析和荧光原位杂交是获得诊断结果的相对便宜的技术，预后和治疗兴趣。这里,我们概述了T-ALL患者中可检测到的复发性染色体异常,并提出了有关其检测的指南.通过平行参考更一般的分子分类方法，我们希望提供一个在广泛的临床遗传环境中有用的诊断框架.
