[Clinical Characteristics and Prognostic Significance of PTPN11 Gene Mutations in Myelodysplastic Syndromes]

To explore the mutation of PTPN11 gene in patients with myelodysplastic syndromes (MDS), and explore their correlation with mutations of other genes, clinical features and prognostic of patients.

High throughput DNA sequencing was used to identify mutations in common blood tumor genes. The mutational characteristics of the PTPN11 gene and the correlation between gene mutations and patients clinical characteristics and prognosis were retrospectively analyzed.

The incidence of PTPN11 mutations in 131 MDS patients was 9.16%. The genes with a mutation rate greater than 10% were RUNX1 (24.43%), U2AF1 (20.61%), ASXL1 (19.85%), DNMT3A (15.27%), TP53 (14.50%) and TET2 (11.45%). The most common co-mutation gene of PTPN11 mutations was RUNX1 (50%, 6/12). There was no significant difference between the PTPN11 mutation and the wild-type groups in sex, peripheral leukocytes, hemoglobin, platelet levels, MDS subtype, karyotype, and bone marrow blast counts (P >0.05). The transformation rate in PTPN11 mutation group was higher than that in wild-type group ［54.55%(6/11) vs . 25.29%(22/87), P < 0.05］. The median OS of patients with PTPN11 mutation was significantly low than that in the wide-type group.

PTPN11 mutation had a modest incidence in MDS patients, which was often coexists with RUNX1 mutation. Patients with PTPN11 mutations were more likely to progress to AML than the wild-type group.