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- W2546034109 abstract "To characterize the molecular profile in patients with Ph negative myeloproliferative neoplasms (MPN) by exploring 49 gene mutations.Targeted gene sequencing were performed to analyze 49 MPN-associated genes in 51 patients with Ph negative MPN, of which CARL (exon 9), NPM1 (exon 12) and CEBPA (TAD, BZIP domains) were investigated by using Sanger sequencing simultaneously, while FLT3-ITD was assessed by PCR method.Mutations were detected in 73.5% (36/49) of genes, and the mutational rates of JAK2-V617F, CALR (exon 9) and MPL were 60.8%(31/51), 7.8%(4/51) and 7.8%(4/51) respectively, whereas the mutational rates of ASXL1, SETBP1, and SF3B1 were around 10%. In addition, 96.1% (49/51) of patients harbored at least one mutation, and more than half of the patients (52.9%, 27/51) possessed 3 or 4 gene mutations. The amount of gene mutations was significantly higher in patients with JAK2-V617F mutation than those without JAK2-V617F or CALR (exon 9) mutation (P<0.05). The last finding was that there was no statistically significant difference in the amount of mutations among four MPN subtypes (PV, ET, PMF, and MPN-U).Most patients with Ph negative MPN possesses three or more gene mutations, with various mutational profiles." @default.
- W2546034109 created "2016-11-04" @default.
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- W2546034109 date "2016-09-08" @default.
- W2546034109 modified "2023-10-18" @default.
- W2546034109 title "[Characterization of mutational pattern in patients with Ph negative myeloproliferative neoplasms]." @default.
- W2546034109 doi "https://doi.org/10.3760/cma.j.issn.0529-5807.2016.09.008" @default.
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