探讨成人急性髓系白血病（AML）患者PTPN11基因突变及其相关基因突变的发生情况，并分析其临床特征。采用二代测序和Sanger测序检测51个基因突变，多重PCR检测用于检测2017年1月至2022年7月江南大学附属医院、常州市第二人民医院、无锡市人民医院和无锡市第二人民医院收治的451例初诊成人AML患者的41个融合基因。在451例原发性成人AML患者中，PTPN11检测出基因突变34例，突变率为7.5%。在这 34 名患者中，发现了 37 个 PTPN11 改变，这些改变完全是错义突变，影响位于 N-SH2（31 例）和 PTP（6 例）结构域内的残基，并且绝大多数聚集在外显子 3 中。PTPN11 突变患者的血小板计数为76.5（23.5，119.0）×109/L，显着高于野生型患者的41.0（22.0，82.5）×109/L（P < 0.05）。而PTPN11突变型患者与野生型患者在性别、年龄、外周血白细胞计数、血红蛋白、骨髓原始细胞等方面差异均无统计学意义（P>0.05）。在FAB亚型中，PTPN11突变主要分布在M5中，其次是M2和M4，M3和M6中较少见。 PTPN11突变型和野生型患者FAB亚型分布无显着性差异（P>0.05）。共有118例AML患者检出融合基因阳性，其中PTPN11突变患者MLL-AF6阳性发生率高于野生型患者（P < 0.01）。 34例PTPN11突变患者中，97.1%伴有其他突变，从高到低依次为NPM1（38.2%）、NRAS（32.4%）、FLT3-ITD（32.4%）、DNMT3A（32.4%）和KRAS（23.5%）。 %)等。PTPN11突变在AML患者中有一定的发生率，绝大多数集中在外显子3。所有这些突变都是错义突变，并且最常与NPM1突变同时存在。 PTPN11突变的FAB分型多表现为M5亚型，与较高的血小板计数相关。

To investigate the incidence of PTPN11 gene mutation and its associated gene mutations in adult patients with acute myeloid leukemia (AML), and analyze its clinical characteristics.Second-generation sequencing and Sanger sequencing were used to detect 51 gene mutations, and multiplex-PCR was used to detect 41 fusion genes from 451 newly diagnosed adult AML patients admitted to Affiliated Hospital of Jiangnan University, Changzhou Second People's Hospital, Wuxi People's Hospital and Wuxi Second People's Hospital from January 2017 to July 2022.Among 451 primary adult AML patients, the PTPN11 gene mutation was detected in 34 cases, and the mutation rate was 7.5%. In the 34 patients, 37 PTPN11 alterations were found, which were exclusively missense mutations affecting residues located within the N-SH2 (31 cases) and PTP (6 cases) domains and clustered overwhelmingly in exon 3. The platelet count of PTPN11 mutation patients was 76.5(23.5, 119.0)×109/L, which was significantly higher than 41.0(22.0, 82.5)×109/L of wild-type patients (P < 0.05). While, there were no significant differences in sex, age, peripheral white blood cell count, hemoglobin, and bone marrow blast between PTPN11 mutation and wild-type patients (P >0.05). In FAB subtypes, PTPN11 mutations were mainly distributed in M5, followed by M2 and M4, less frequently in M3 and M6. There was no significant difference in the distribution of FAB subtypes between PTPN11 mutation and wild-type patients (P >0.05). A total of 118 AML patients were detected positive fusion gene, among which patients with PTPN11 mutations had a higher incidence of positive MLL-AF6 than wild-type ones (P < 0.01). 97.1% of 34 patients with PTPN11 mutations were accompanied by other mutations, in descending order, they were respectively NPM1 (38.2%), NRAS (32.4%), FLT3-ITD (32.4%), DNMT3A (32.4%) and KRAS (23.5%), etc .PTPN11 mutation has a certain incidence in AML patients and is clustered overwhelmingly in exon 3. ALL of them are exclusively missense mutations, and most often present in conjunction with NPM1 mutations. FAB typing of PTPN11 mutation is mostly manifested as M5 subtype, which is associated with higher platelet counts.