
NPM1 -mutated acute myeloid leukemia: from bench to bedside
2020年10月8日 · NPM1 mutations represent the most common genetic lesion in adult acute myeloid leukemia (AML; about one third of cases), and they act deterministically to cause the aberrant cytoplasmic delocalization of NPM1 mutants.
How I diagnose and treat NPM1 -mutated AML - American …
2021年2月4日 · Acute myeloid leukemia (AML) carrying mutations of nucleophosmin (NPM1), a gene encoding for a multifunctional nucleolar protein with chaperone and shuttling features, 1 accounts for ∼30% of adult AML and exhibits distinctive molecular and clinicopathological features. 2,3 The aberrant cytoplasmic dislocation of mutant NPM1 is thought to play ...
Blood Cancer Discov:NPM1突变AML的诊断、风险分层和分子监 …
2023年11月11日 · NPM1突变AML是成人 AML 中最大的分子学亚组(30-35%),可通过分子技术和免疫组化进行识别,两者联合使用时可解决困难的诊断问题(包括识别髓系肉瘤和外显子12以外的 NPM1 突变)。 根据2022年欧洲白血病网 (ELN),确定NPM1(和FLT3)的突变状态是基于基因的 AML 风险分层的必须步骤,通过 RT-qPCR 监测MRD,结合 ELN 风险分层,可指导缓解后阶段的治疗决策。 Blood Cancer Discovery近日发表一篇文章,对 NPM1 突变 AML 的诊断、风 …
Significance of NPM1 Gene Mutations in AML - PMC - PubMed …
The aim of this literature review is to examine the significance of the nucleophosmin 1 (NPM1) gene in acute myeloid leukaemia (AML). This will include analysis of the structure and normal cellular function of NPM1, the type of mutations commonly witnessed in NPM1, and the mechanism by which this influences the development and progression of AML.
NPM 1 Mutations in AML—The Landscape in 2023 - PMC
The nucleophosmin 1 (NPM1) gene is mutated in approximately one-third of newly diagnosed acute myeloid leukemia (AML) cases. NPM1mutated AML (NPM1mut-AML) has been reclassified as a distinct entity in the 2022 World Health Organization (WHO 2022) ...
Nucleophosmin (NPM1) Mutations in Adult and Childhood Acute …
Somatic mutations in exon 12 of the NPM gene (NPM1) are the most frequent genetic abnormality in adult AML, found in approximately 35% of all cases and up to 60% of patients with normal karyotype AML. In children, NPM1 mutations are far less frequent, occurring in 8–10% of all AML cases, and in approximately 25% of those with a normal karyotype.
Criteria for Diagnosis and Molecular Monitoring of NPM1-Mutated AML
2024年1月8日 · NPM1-mutated acute myeloid leukemia (AML) represents the largest molecular subgroup of adult AML. NPM1-mutated AML is recognizable by molecular techniques and immunohistochemistry, which, when combined, can solve difficult diagnostic problems (including identification of myeloid sarcoma and NPM1 mutations outside exon 12).
How I diagnose and treat NPM1-mutated AML - PubMed
2021年2月4日 · Mutations of the nucleophosmin (NPM1) gene, encoding for a nucleolar multifunctional protein, occur in approximately one-third of adult acute myeloid leukemia (AML). NPM1-mutated AML exhibits unique molecular, pathological, and clinical features, which led to its recognition as distinct entity in th …
发现 NPM1 突变蛋白诱导急性髓系白血病新机制,计划开发小分子 …
急性髓系白血病(aml),是成人中较为常见的一种急性白血病,也是最具侵袭性和最难治疗的血液癌症之一。 该病多发于中老年群体,男性发病率高于女性,患者五年生存率约为 28%。
NPM 1 Mutations in AML—The Landscape in 2023 - MDPI
2023年1月16日 · NPM1mutated AML (NPM1 mut-AML) has been reclassified as a distinct entity in the 2022 World Health Organization (WHO 2022) and European Leukemia Network (ELN 2022) classification on myeloid neoplasm requiring >10% of leukemic blasts for diagnosis. Clinically, it presents with high white cell counts, blast percentage and frequent extramedullary ...
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