Article
Germline Neurofibromin 1 mutation enhances the anti-tumour immune response and decreases juvenile myelomonocytic leukaemia tumourigenicity.
British journal of haematology - 1 Jul 2023
Wang Wanqiao, Li Xin, Qin Xia, Miao Yan, Zhang Yingwen, Li Shanshan, Yao Ruen, Yang Yi, Yu Lisha, Zhu Hua, Song Lili, Mao Shengqiao, Wang Xiumin, Chen Jing, Feng Haizhong, Li Yanxin
Abstract excerpt
Juvenile myelomonocytic leukaemia (JMML) is an aggressive paediatric leukaemia characterized by mutations in five canonical RAS pathway genes, including the NF1 gene. JMML is driven by germline NF1 gene mutations, with additional somatic aberrations resulting in the NF1 biallelic inactivation, leading to disease progression. Germline mutations in the NF1 gene alone primarily cause benign neurofibromatosis type 1...
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