[Genetic Variation of in Patients with Myeloid Neoplasms].

OBJECTIVE

To observe the genetic variation of in patients with myeloid neoplasms.

METHODS

The results of targeted DNA sequencing associated with myeloid neoplasms in the Department of Hematology, Xuanwu Hospital, Capital Medical University from November 2017 to November 2022 were retrospectively analyzed, and the patients with gene mutations were identified. The demographic and clinical data of these patients were collected, and characteristics of gene mutation, co-mutated genes and their correlations with diseases were analyzed.

RESULTS

The sequencing results were obtained from 1 005 patients, in which 19 patients were detected with gene mutation, including 18 missense mutations (94.74%), 1 nonsense mutation (5.26%), and 10 patients with co-mutated genes (52.63%). Variant allele frequency (VAF) ranged from 0.03 to 0.66. The highest frequency mutation was p.Ile568Thr (5/19, 26.32%), with an average VAF of 0.49, involving 1 case of MDS/MPN-RS (with mutation), 1 case of MDS-U (with mutation), 1 case of aplastic anemia with PNH clone (with and mutations), 2 cases of MDS-MLD (1 case with mutation). The other mutations included p.Ala567Thr in 2 cases (10.53%), p.Arg566Trp, p.Glu533Lys, p.Met437Arg, p.Arg425Cys, p.Glu314Lys, p.Arg308*, p.Gln294Glu, p.Arg282Gln, p.Arg175Gln, p.Gly86Cys, p.His55Asn and p.Gln54Pro in 1 case each.

CONCLUSION

A wide distribution of genetic mutation sites and low recurrence of is observed in myeloid neoplasms, among of them, p.Ile568Thr mutation is detected with a higher incidence and often coexists with characteristic mutations of other diseases.