IF 12.9)发表了题为“Co-mutation landscape and its prognostic impact on newly diagnosed adult patients with NPM1-mutated de novo acute myeloid leukemia”的研究论文,首次全面地揭示了NPM1突变的共突变特征谱(尤其是多种共突变组...
In this issue, Pasqualucci and colleagues show that the nucleophosmin (NPM1) mutation can be found in multiple myeloid lineages in AML, carrying implications for its cellular origins. They also suggest the recognition of this subset of AML in the World Health Organization (WHO) classification of...
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...
结论NPM1基因突变与CN-AML高肿瘤负荷以及高诱导化疗缓解率具有相关性。 关键词: 白血病,髓样,急性;基因,NPM1;突变 ABSTRACT ObjectiveTo investigate the frequency of NPM1 mutation and its clinical significance in patients with cytogenetically normal acute myeloid leukemia(CN-AML). MethodsThe data of 190 ...
Case 5: AML withNPM1exon 11 mutation A 64-year-old woman presented with fatigue, diarrhea, nausea, dyspnea and fever. CBC showed WBC 43.3 × 109/L, Hb 3.5 g/dL and platelets 67 × 109/L. The BM was diffusely infiltrated by leukaemic cells with myelomonocytic (FAB-M4) ...
The impact of mutation of myelodysplasia-related genes in de novo acute myeloid leukemia carrying NPM1 mutation. Cancers. 2022;15:198. Zhao D, Zarif M, Eladl E, Capo-Chichi JM, Smith AC, Atenafu EG, et al. NPM1-mutated AML-MRC diagnosed on the basis of history of MDS or MDS/MPN...
[157]. The NPM1 mutant was sufficient to induce a myeloproliferative disorder, but was unable to generate AML recapitulating the phenotypic features observed in humans. Activation of a humanizedNPM1mutation in mouse HSCs was obtained using different conditional knock-in models, that allowed the ...
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 ...
Acute myeloid leukemia (AML) with mutated NPM1 (Nucleophosmin 1) is a distinct entity in the 5th edition of the World Health Organization (WHO) Classificat
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...