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We discuss the clinical characteristics and prognostic significance of adult individuals with  PTPN11  mutations who have developed acute myeloid leukemia (AML) (none acute promyelocytic leukemia). Next generation sequencing and Sanger sequencing were used to detect 51 gene mutations, and multiplex-PCR was used to detect 41 fusion genes from 232  de novo  adult AML patients retrospectively. About 7.76% patients harbored  PTPN11  mutations, 20  PTPN11  alterations were identified, all of which were missense mutations in the N-SH2 ( n  = 16) and PTP ( n  = 4) domains located in exon 3. Patients with  PTPN11mut  had significantly higher platelet counts and hemoglobin levels ( p  &lt; 0.001), which were mainly detected in M5 ( n  = 12, 66.67%,  p  &lt; 0.001) subtype. Patients with MLL-AF6 positive showed a higher frequency of  PTPN11mut  ( p  = 0.018) in the 118 AML cases.  PTPN11mut  were accompanied by other mutations, which were  NPM1  (44.44%),  DNMT3A  (38.89%),  FLT3  (38.89%), and  NRAS  (17.2%).  PTPN11mut  had a negative impact on the complete remission rate in M5 subtype patients ( p  &lt; 0.001). However, no statistically significant effect on overall survival (OS) with  PTPN11mut  patients in the whole cohort and age group ( p  &gt; 0.05) was observed. Further analysis revealed no significant difference in OS among  NPM1mut / PTPN11mut ,  NPM1mut / PTPN11wt ,  DNMT3Amut / PTPN11mut , and  DNMT3Amut / PTPN11wt  patients ( p  &gt; 0.05). Multivariate analysis showed the proportion of bone marrow blasts ≥65.4% was a factor significantly affecting OS in  PTPN11mut  patients ( p  = 0.043).

Analysis of the clinical characteristics and prognosis of adult de novo acute myeloid leukemia (none APL) with PTPN11 mutations