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原发性造血细胞中白血病相关PTPN11突变的功能分析

Functional analysis of leukemia-associated PTPN11 mutations in primary hematopoietic cells.

作者信息

Schubbert Suzanne, Lieuw Kenneth, Rowe Sara L, Lee Connie M, Li Xiaxin, Loh Mignon L, Clapp D Wade, Shannon Kevin M

机构信息

Department of Pediatrics, University of California at San Francisco, 513 Parnassus Ave, HSE 302, San Francisco, CA 94143, USA.

出版信息

Blood. 2005 Jul 1;106(1):311-7. doi: 10.1182/blood-2004-11-4207. Epub 2005 Mar 10.

Abstract

PTPN11 encodes the protein tyrosine phosphatase SHP-2, which relays signals from growth factor receptors to Ras and other effectors. Germline PTPN11 mutations underlie about 50% of Noonan syndrome (NS), a developmental disorder that is associated with an elevated risk of juvenile myelomonocytic leukemia (JMML). Somatic PTPN11 mutations were recently identified in about 35% of patients with JMML; these mutations introduce amino acid substitutions that are largely distinct from those found in NS. We assessed the functional consequences of leukemia-associated PTPN11 mutations in murine hematopoietic cells. Expressing an E76K SHP-2 protein induced a hypersensitive pattern of granulocyte-macrophage colony-forming unit (CFU-GM) colony growth in response to granulocyte-macrophage colony-stimulating factor (GM-CSF) and interleukin 3 (IL-3) that was dependent on SHP-2 catalytic activity. E76K SHP-2 expression also enhanced the growth of immature progenitor cells with high replating potential, perturbed erythroid growth, and impaired normal differentiation in liquid cultures. In addition, leukemia-associated SHP-2 mutations conferred a stronger phenotype than a germline mutation found in patients with NS. Mutant SHP-2 proteins induce aberrant growth in multiple hematopoietic compartments, which supports a primary role of hyperactive Ras in the pathogenesis of JMML.

摘要

PTPN11编码蛋白酪氨酸磷酸酶SHP-2,该酶将生长因子受体的信号传递给Ras及其他效应器。种系PTPN11突变是约50%努南综合征(NS)的病因,NS是一种发育障碍,与青少年骨髓单核细胞白血病(JMML)风险升高相关。最近在约35%的JMML患者中发现了体细胞PTPN11突变;这些突变导致的氨基酸替换与NS中的突变有很大不同。我们评估了白血病相关PTPN11突变在小鼠造血细胞中的功能后果。表达E76K SHP-2蛋白会诱导粒细胞-巨噬细胞集落形成单位(CFU-GM)集落对粒细胞-巨噬细胞集落刺激因子(GM-CSF)和白细胞介素3(IL-3)的生长出现超敏模式,这依赖于SHP-2的催化活性。E76K SHP-2的表达还增强了具有高再增殖潜力的未成熟祖细胞的生长,扰乱了红系生长,并损害了液体培养中的正常分化。此外,白血病相关的SHP-2突变比在NS患者中发现的种系突变表现出更强的表型。突变的SHP-2蛋白在多个造血区室中诱导异常生长,这支持了过度活跃的Ras在JMML发病机制中的主要作用。

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