[Clinical Value of Genetic Susceptibility Genes for Myeloid Neoplasm in Myeloproliferative Neoplasm]

To investigate the influence of genetic susceptibility genes for myeloid tumors on the clinical characteristics of patients with myeloproliferative neoplasm (MPN).

Two hundred and thirty-two patients with MPN diagnosed at the Second Hospital of Tianjin Medical University from September 2017 to December 2021 were collected, myeloid neoplasm-related genes were detected by targeted next-generation sequencing, and germline mutations were verified. The clinical characteristics and prognosis of MPN patients with germlines mutations in the genetic susceptibility gene for myeloid neoplasm were analyzed.

The germline mutation carrier rate of myeloid neoplasm genetic susceptibility gene in MPN patients was 21.6% (50/232), and the PV, ET and PMF patients carrying germline mutations of genetic susceptibility gene for myeloid neoplasm were 25/114 (21.9%), 8/69 (11.6%) and 17/49 (34.7%), respectively, among which PMF patients had the highest carrier rate (P=0.01) and were older (P=0.02). The incidence of chromosomal abnormalities in MPN patients carrying the genetic susceptibitity genes for myeloid neoplasm was higher than that in the non-carrier group (26.5% vs 11.8%, P=0.05). Germline mutations in the genetic susceptibility gene of myeloid neoplasm in MPN patients were mainly concentrated in the RAS pathway, and patients with germline mutations in the genetic susceptibility gene of myeloid neoplasm associated with the RAS pathway had shorter survival without AML progression (P<0.0001). The overall survival time in MPN patients with CBL and TP53 germline mutations was shorter than that of non-carrier group (P=0.001; P=0.043).

In MPN, PMF patients are more likely to carry germline mutations in the genetic susceptibility gene for myeloid neoplasm. MPN patients with germline mutations carring the genetic susceptibility gene for myeloid neoplasm are prone to chromosomal abnormalities; Patients with MPN who have germline mutations in the genetic susceptibility gene for myeloid neoplasm in the RAS pathway are more likely to develop AML; CBL and TP53 germline mutations affect the overall survival of MPN patients.