关键词: B-cell acute lymphoblastic leukemia JAK–STAT childhood genetic aberrations treatment

Mesh : Humans Signal Transduction STAT Transcription Factors / metabolism genetics Janus Kinases / metabolism Child Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / metabolism genetics pathology Mutation

来  源:   DOI:10.3390/ijms25136844   PDF(Pubmed)

Abstract:
B-cell lymphoblastic leukemia is a hematologic neoplasm that poses a serious health concern in childhood. Genetic aberrations, such as mutations in the genes IL-7, IL7R, JAK1, JAK2, TLSP, CRLF2, and KTM2A or gene fusions involving BCR::ABL1, ETV6::RUNX1, and PAX5::JAK2, often correlate with the onset of this disease. These aberrations can lead to malfunction of the JAK-STAT signaling pathway, which is implicated in various important biological processes, including those related to immunology. Understanding the mechanisms underlying the malfunction of the JAK-STAT pathway holds potential for research on drugs targeting its components. Available drugs that interfere with the JAK-STAT pathway include fludarabine, ruxolitinib, and fedratinib.
摘要:
B细胞淋巴母细胞白血病是一种血液肿瘤,在儿童时期引起严重的健康问题。遗传畸变,如基因IL-7,IL7R,JAK1,JAK2,TLSP,CRLF2和KTM2A或涉及BCR::ABL1、ETV6::RUNX1和PAX5::JAK2的基因融合通常与该疾病的发作相关。这些畸变可导致JAK-STAT信号通路的故障,这与各种重要的生物过程有关,包括与免疫学有关的。了解JAK-STAT通路故障的潜在机制具有研究靶向其成分的药物的潜力。干扰JAK-STAT途径的可用药物包括氟达拉滨,鲁索替尼,和费司替尼.
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