Mroczek Anna, Zawitkowska Joanna, Kowalczyk Jerzy, Lejman Monika
Department of Paediatric Haematology, Oncology and Transplantology, Medical University of Lublin, 20-093 Lublin, Poland.
Laboratory of Genetic Diagnostics, Medical University of Lublin, 20-093 Lublin, Poland.
Int J Mol Sci. 2021 Jan 15;22(2):808. doi: 10.3390/ijms22020808.
Acute lymphoblastic leukaemia (ALL) is a relevant form of childhood neoplasm, as it accounts for over 80% of all leukaemia cases. T-cell ALL constitutes a genetically heterogeneous cancer derived from T-lymphoid progenitors. The diagnosis of T-ALL is based on morphologic, immunophenotypic, cytogenetic, and molecular features, thus the results are used for patient stratification. Due to the expression of surface and intracellular antigens, several subtypes of T-ALL can be distinguished. Although the aetiology of T-ALL remains unclear, a wide spectrum of rearrangements and mutations affecting crucial signalling pathways has been described so far. Due to intensive chemotherapy regimens and supportive care, overall cure rates of more than 80% in paediatric T-ALL patients have been accomplished. However, improved knowledge of the mechanisms of relapse, drug resistance, and determination of risk factors are crucial for patients in the high-risk group. Even though some residual disease studies have allowed the optimization of therapy, the identification of novel diagnostic and prognostic markers is required to individualize therapy. The following review summarizes our current knowledge about genetic abnormalities in paediatric patients with T-ALL. As molecular biology techniques provide insights into the biology of cancer, our study focuses on new potential therapeutic targets and predictive factors which may improve the outcome of young patients with T-ALL.
急性淋巴细胞白血病(ALL)是儿童肿瘤的一种重要形式,因为它占所有白血病病例的80%以上。T细胞ALL是一种源自T淋巴细胞祖细胞的基因异质性癌症。T-ALL的诊断基于形态学、免疫表型、细胞遗传学和分子特征,因此这些结果用于患者分层。由于表面和细胞内抗原的表达,可以区分几种T-ALL亚型。虽然T-ALL的病因尚不清楚,但迄今为止已描述了影响关键信号通路的广泛重排和突变。由于强化化疗方案和支持性护理,小儿T-ALL患者的总体治愈率已达到80%以上。然而,更好地了解复发机制、耐药性以及确定危险因素对于高危组患者至关重要。尽管一些残留疾病研究已使治疗得到优化,但仍需要鉴定新的诊断和预后标志物以实现个体化治疗。以下综述总结了我们目前关于小儿T-ALL患者基因异常的知识。由于分子生物学技术为癌症生物学提供了深入了解,我们的研究重点是新的潜在治疗靶点和预测因素,这些可能改善小儿T-ALL患者的治疗结果。