nucleophosmin (NPM1) mutationacute myeloid leukemia (AML)menin inhibitorsexportin 1XPO1 inhibitorsminimal residual disease (MRD)CAR-T cellsarsenic trioxideThe nucleophosmin 1 (NPM1) gene is mutated in approximately one-third of newly diagnosed acute myeloid leukemia (AML) cases. NPM1mutated AML (...
The emergence of a smallFLT3-ITD subclone (0.5%) at relapse suggests clonal evolution towards a more aggressive AML.FLT3-ITD is an unstable mutation that may be lost (if present at diagnosis) or acquired at relapse. Interestingly, 4/6NPM1-mutated AML patients withFLT3wild-type at diagnosis ...
有研究报道,按先前标准可分类为MDS或MDS/MPN的病例,如果伴有NPM1突变,大多在短时间内进展为AML[2],图11中列出了文献报道的一例原始细胞<20%的伴NPM1突变的髓系肿瘤在初诊及治疗后两个多月时间内的外周血原始细胞比例的变化。同本病例类似,文献病...
Of note, at first remission, the role of allogeneic stem cell transplant (ASCT) in NPM1-mutated AML remains controversial as there is significant variation in practice. Historically, the benefit of ASCT was observed in patients with NPM1-mutated AML in the presence of FLT3 ITD; however, with...
FLT3 and NPM1 mutations in a cohort of AML patients and detection of a novel mutation in tyrosine kinase domain of FLT3 gene from Western India and have been shown to have a prognostic impact in AML, particularly in those having normal karyotype. Though there is substantial amount of data on...
Mutations of the nucleophosmin (NPM1) gene have recently been described in patients with acute myeloid leukemia (AML). To clarify the prevalence as well as the clinical impact of this mutation, we investigated 1485 patients with AML for NPM1 exon 12 mutations using fragment analysis. A 4 bp ...
急性髓系白血病伴NPM1突变常累及NPM1基因的外显子12。胞质异常表达NPM是这一基因突变的替代标志。这类AML常呈粒-单核细胞或单核细胞特征,典型情况下原发存在于正常核型的成人AML。 NPM1 mutation is one of the most common recurrent genetic lesions in A...
Genetic mutation on MHC gene locus [25], transcriptional or epigenetic downregulation of MHC expression [26, 27] and post-translational degradation of MHC molecules [28, 29] have been broadly implicated in tumor immune evasion and resistance to ICB therapy. Meanwhile, the reprogrammed, ...
The multivariate analysis revealed that no recurrence after treatment and transplantation were independent prognostic factors in NPM1mut AML patients. On the other hand, FLT3-ITD mutation and hemoglobin concentration were associated with RFS and complete remission after treatment was associated with OS in...
. The finding that NPM1 mutant in AML is unable to bind the rDNA gene locus [37] suggests that ribosomal synthesis may be regulated by mechanisms other than theNPM1mutation. The ribosomal protein S2 (RPS2), which positively stimulates rRNA transcription, was found to be upregulated inNPM1-...