BACKGROUND: The recurrent somatic mutations in genes such as Janus kinase 2 (JAK2) lead to cytokine-independent activation of the JAK-signal transducer and activator of transcription (STAT) pathway, a crucial factor in the development of classic myeloproliferative neoplasms (cMPNs). Protein tyrosine phosphatase 1B (PTP1B) is a significant regulator in this pathway, while the single nucleotide polymorphism (SNP) and promoter methylation profiles of the METHODS: Bone marrow (BM) biopsies were collected from a cohort comprising 96 cMPN patients and 50 healthy controls. SNP-specific extension primers were utilized to facilitate single base extension at the SNP site. A MALDI-TOF mass spectrometer and MassARRAY Typer software were used to detected the SNP. The incidence of SNPs within RESULTS: Our findings revealed seven coding-region SNPs, including a novel variant (g.50579818T>
A). Additionally, we identified aberrant hypermethylation and hypomethylation of several CpG islands within the CONCLUSIONS: In this study, we identified a novel SNP and observed differences in the frequency of seven SNPs and hypermethylation of