Genescà Eulàlia, González-Gil Celia
Institut d'Investigació Contra la Leucemia Josep Carreras (IJC), Campus ICO-Germans Trias i Pujol, Universitat Autònoma de Barcelona, 08916 Badalona, Spain.
Cancers (Basel). 2022 May 17;14(10):2474. doi: 10.3390/cancers14102474.
As for many neoplasms, initial genetic data about T-cell acute lymphoblastic leukemia (T-ALL) came from the application of cytogenetics. This information helped identify some recurrent chromosomal alterations in T-ALL at the time of diagnosis, although it was difficult to determine their prognostic impact because of their low incidence in the specific T-ALL cohort analyzed. Genetic knowledge accumulated rapidly following the application of genomic techniques, drawing attention to the importance of using high-resolution genetic techniques to detect cryptic aberrations present in T-ALL, which are not usually detected by cytogenetics. We now have a clearer appreciation of the genetic landscape of the different T-ALL subtypes at diagnosis, explaining the particular oncogenetic processes taking place in each T-ALL, and we have begun to understand relapse-specific mechanisms. This review aims to summarize the latest advances in our knowledge of the genome in T-ALL. We highlight areas where the research in this subtype of ALL is progressing with the aim of identifying key questions that need to be answered in the medium-long term if this knowledge is to be applied in clinics.
与许多肿瘤一样,关于T细胞急性淋巴细胞白血病(T-ALL)的初始基因数据来自细胞遗传学的应用。这些信息有助于在诊断时识别T-ALL中一些反复出现的染色体改变,尽管由于其在分析的特定T-ALL队列中的低发病率,很难确定它们的预后影响。随着基因组技术的应用,遗传知识迅速积累,这使得人们开始关注使用高分辨率遗传技术来检测T-ALL中存在的隐匿性畸变,而这些畸变通常无法通过细胞遗传学检测到。我们现在对不同T-ALL亚型在诊断时的遗传图谱有了更清晰的认识,解释了每个T-ALL中发生的特定肿瘤发生过程,并且我们已经开始了解复发特异性机制。这篇综述旨在总结我们对T-ALL基因组知识的最新进展。我们强调了ALL这一亚型的研究进展领域,目的是确定如果要将这些知识应用于临床,在中长期需要回答的关键问题。