CD123, and CD110 expression are common. HLA―DR is often negative. Two major subgroups of AML with mutated NPM1 have been described: one with an immature myeloid immunophenotypic profile and one with a monocytic (CD36+, CD64+, CD14+) ...
2024年7月22日,浙大一院血液科金洁/王华锋教授白血病团队在《Blood Cancer Journal》期刊(中科院一区,IF 12.9)发表了题为“Co-mutation landscape and its prognostic impact on newly diagnosed adult patients with NPM1-mutated de n...
Wild-type NPM1 is normally localized to the nucleus, whereas mutant NPM1 proteins exhibit altered cytoplasmic localization. Clinically, AML with mutated NPM1 without FLT3 -ITD is associated with a higher complete remission rate and improved overall survival. AML with mutated NPM1 is categorized as...
郑素洁 :根据WHO2016版(修订版)急性髓系白血病分型,这个患者诊断AML with mutated NPM1 茹进伟:请教一下NPM1突变的AML形态和流式有什么特点? 郑素洁 :之前看过一些文献,NPM1基因突变多见于正常核型的AML患者,M1和M5多见,患者高龄、高白,CD34和CD117低表达。 王哲:AML伴NPM1突变是2016版AML与相关肿瘤类型中的...
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, ...
Oñate G, Bataller A, Garrido A, et al. Prognostic impact of DNMT3A mutation in acute myeloid leukemia with mutated NPM1.Blood Adv. 2022;6(3):882–890. PubMedWeb of Science ®Google Scholar Nibourel O, Kosmider O, Cheok M, et al. Incidence and prognostic value of TET2 alterations...
郑素洁 :根据WHO2016版(修订版)急性髓系白血病分型,这个患者诊断AML with mutated NPM1 茹进伟:请教一下NPM1突变的AML形态和流式有什么特点? 郑素洁 :之前看过一些文献,NPM1基因突变多见于正常核型的AML患者,M1和M5多见,患者高龄、高白,CD34和CD117低表达。 王哲:AML伴NPM1突变是2016版AML与相关肿瘤类型中的...
Acute myeloid leukemia (AML) is a heterogeneous malignancy with outcomes largely predicted by genetic abnormalities. Mutations of NPM1 are common in AML , occurring in 30% of cases, and generally considered a favorable risk factor. Mutations highly specific for secondary AML (sMut) have been shown...
Two new provisional entities, AML with mutated RUNX1 and AML with BCR-ABL1, have been included in the current update of the WHO classification of myeloid neoplasms and AML, and mutations in three genes—RUNX1, ASXL1, and TP53—have been added in the risk stratification of the 2017 European...
Case 1: adult young patient withNPM1-mutated AML, multilineage dysplasia and clonal evolution ofFLT3-ITD A 58-year-old woman presented with urinary tract infection. The complete blood count (CBC) showed: white blood cells (WBC) 12.8 × 109/L, haemoglobin (Hb) 9.5 g/dL and plate...