查阅文献,NPM1是一种具有调控细胞增殖及生长等多种功能的核蛋白,NPM1基因可通过染色体易位、缺失、突变等参与肿瘤的形成。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...
is observed in almost a quarter of cases of de novo AML with mutated NPM1. These cases usually have a normal karyotype, and the blast cells are CD34―negative. The bone marrow is usually markedly hypercellular. In the setting of NPM1 m...
NPM1mutationPathogenesisPrognosisMolecular targeted therapyNucleophosmin 1 ( NPM1 ) mutation is one of the most prevalent genetic mutations in adult acute myeloid leukemia (AML) and is particularly predominant in AML with a normal karyotype. NPM1 is a chaperone protein that plays various roles in ...
Acute myeloid leukemia (AML) with NPM1 mutation (NPM1 mut) defines a World Health Organization entity. Absence of minimal residual disease (MRD) following induction chemotherapy is associated with an excellent prognosis. Data are conflicting on NPM1 mut AML relapsing with wild-type NPM1 (NPM1 ...
AMLwithNPM1mutation NPM1突变多为位于该基因的12号外显子的插入突变,突变造成所编码的穿梭蛋白核定位信号异常,使该蛋白在胞质中异常聚集,其引起的下游通路改变可能参与白血病形成。 NPM1基因突变是急性髓系白血病(AML)最常见的基因突变,发生率约25%～30%,NK-AML患者中的比例更高。 NK-AML伴单一NPM1基因突变认为...
(nucleophosmin,NPM1)突变是目前AML中最常见的基因突变之一 [ 1 ] ;是导致白血病发生的主要分子事件之一 [ 2 ] ;与原发性AML密切相关,然而在继发AML中却偶有发生 [ 3 ] ;多分布在M3、M4EO、M7以外的其他AML各亚型中,多累及染色体核型正常的患者,且与疾病的发生、发展密切相关 [ 2 , 4 ] ,因此NPMl突变...
GATA2锌指基因1突变也与AML伴双等位CEBPA突变相关，可见于约39%的病例。A subset of cases of AML with biallelic mutation of CEBPA have an abnormal karyotype. Similarly to in AML with mutated NPM1, del(9q) is common among this group and does not appear to influence prognosis. Therefore, ...
Acute myeloid leukemia (AML) with NPM1 mutation (NPM1mut) defines a World Health Organization entity. Absence of minimal residual disease (MRD) following induction chemotherapy is associated with an excellent prognosis. Data are conflicting on NPM1mut AML relapsing with wild-type NPM1 (NPM1wt)....
AML with NPM1 mutation AML with mutation of genes that regulate chromatin (ASXL1, STAG2, BCOR, KMT2A PTD [partial tandem duplication], EZH2, and PHF6), RNA splicing (SRSF2, SF3B1, U2AF1, and ZRSR2), or both, or transcription (RUNX1) ...
AML with CBFB::MYH11 fusion AML with DEK::NUP214 fusion AML with RBM15::MRTFA fusion AML with BCR::ABL1 fusion AML with KMT2A rearrangement AML with MECOM rearrangement AML with NUP98 rearrangement AML with NPM1 mutation AML with CEBPA mutation AML, myelodysplasia-related ...