Josep Carreras Leukemia Research Institute (IJC), Barcelona, Catalonia, Spain.
Catalan Institute of Oncology (ICO) - Immuno Procure, Barcelona, Catalonia, Spain.
Methods Mol Biol. 2024;2773:9-24. doi: 10.1007/978-1-0716-3714-2_2.
T-cell acute lymphoblastic leukemia (T-ALL) is primarily a NOTCH1-driven disease, which represents approximately 15% of pediatric and 25% of adult newly diagnosed ALL cases. Gain-of-function NOTCH1 mutations are highly prevalent in T-ALL contributing to almost 60% of the cases. The protocol presented here describes a method for in vivo T-ALL transformation driven by the retroviral transduction of hematopoietic progenitors with oncogenic mutant forms NOTCH1 and subsequent transplant into recipient mice. This T-ALL transformation model allows the interaction between the leukemia cells and the bone marrow microenvironment, better recapitulating the physiological conditions that promote the development of the human disease, providing a versatile tool for both experimental therapeutics and functional genetics studies on T-ALL.
T 细胞急性淋巴细胞白血病(T-ALL)主要是一种 NOTCH1 驱动的疾病,约占儿童新诊断 ALL 病例的 15%,成人新诊断 ALL 病例的 25%。功能获得性 NOTCH1 突变在 T-ALL 中非常普遍,占病例的近 60%。本方案介绍了一种通过逆转录病毒转导造血祖细胞,使其携带致癌突变形式的 NOTCH1,然后移植到受体小鼠体内,从而在体内驱动 T-ALL 转化的方法。这种 T-ALL 转化模型允许白血病细胞与骨髓微环境相互作用,更好地模拟促进人类疾病发展的生理条件,为 T-ALL 的实验治疗和功能遗传学研究提供了一种多功能工具。