Among nearly 10,000 patients investigated so far, molecular analyses documented NPM1 mutations in around 2% of myelodysplastic syndrome (MDS) cases, mainly belonging to MDS with excess of blasts, and 3% of myelodysplastic/myeloproliferative neoplasm (MDS/MPN) cases, prevalently classified as chronic myelomonocytic leukemia.

2023年4月29日 · NPM1 -mutated acute myeloid leukemia (AML) accounts for about 30%–35% of newly diagnosed cases in adults (50%–60% of all AML with normal karyotype 1) and it is characterized by distinctive clinico-pathological and molecular features. 2 For this reason, NPM1 -mutated AML is now recognized as a distinct entity in both the International Consensus C...

2023年11月2日 · Both World Health Organization (WHO 5th) and International Consensus Classification (ICC) guidelines recognize mutations in nucleophosmin 1 ( NPM1 mut) as a class defining molecular event in acute myeloid leukemia (AML). WHO 5th omitted the blast percentage requirement and ICC lowered the blast threshold to 10%.

2015年1月29日 · Bone marrow aspiration and biopsy revealed 90% blasts (panel A) with a peculiar “cup-shaped” nuclear morphology (panel B). Molecular diagnostics revealed the presence of cooccurring mutations of the nucleophosmin (NPM1) and Fms-like tyrosine kinase (FLT3) genes. Cytogenetic studies did not show any abnormalities.

2020年11月26日 · Nucleophosmin ( NPM1 ) gene mutations rarely occur in non-acute myeloid neoplasms (MNs) with <20% blasts. Among nearly 10,000 patients investigated so far, molecular analyses documented NPM1 mutations in around 2% of myelodysplastic syndrome (MDS) cases, mainly belonging to MDS with e …

2024年11月13日 · NPM1 (Nucleophosphomin 1) mutated AML (Acute myeloid leukemia) accounts for 30–35% cases, and is a distinct entity in the WHO (World Health organization) Haem 5 classification . Unlike other recurrent cytogenetic abnormalities, a blast count of ≥ 20% was a necessity to categorize it as AML which has now been abolished, although ...

Bone marrow studies revealed a blast count of 2percent, with cellular particles and erythroid predomi-nance. Trephine biopsy showed a dyspoietic marrow with hypercellular marrow spaces and megakaryocyte dysplasia in the form of loose and tight clustering, and variations in nuclear size and lobation.

2022年5月6日 · Analysis of an independent cohort confirmed decreased levels of HLA transcripts in patients with NPM1 mutation. Samples with combined NPM1 and DNMT3A mutations had high CLIP surface amount suggesting reduced antigen presentation.

2009年5月7日 · Acute myeloid leukaemia (AML) carrying mutations of the nucleophosmin ( NPM1) gene, which lead to aberrant cytoplasmic dislocation of the mutated protein (NPMc+ AML), 1 accounts for...

2024年6月19日 · NPM1 -mutated (NPM1mut) myeloid neoplasms (MNs) with <20% bone marrow (BM) blasts (NPM1mut MNs<20) are uncommon, and their classification remains inconsistent. The clinicopathologic features of 54 patients with NPM1mut MNs <20 were evaluated and compared with wild-type NPM1 MNs <20 and NPM1mut MNs≥20, respectively.