نتایج جستجو برای: npm1 mutation

تعداد نتایج: 292091  

Journal: :International journal of clinical and experimental pathology 2011
Faisal M Alseraye Zhuang Zuo Carlos Bueso-Ramos Sa Wang L Jeffrey Medeiros Gary Lu

Trisomy 11 (+11) as an isolated abnormality is a rare event in patients with acute myeloid leukemia (AML) and is associated with poor prognosis. We describe the clinicopathologic features of 18 AML patients with isolated +11 and their mutation status of NPM1, FLT3, NRAS ,KRAS, and KIT. Fourteen patients had de novo AML and 4 patients had a history of myelodysplastic syndrome (MDS). Fifteen pati...

Journal: :Journal of clinical pathology 2011
Ilka Warshawsky Frank Mularo

AIMS Detecting low-level clinically significant cancer-relevant somatic mutations can be difficult. Several technologies exist for detecting minority mutations. One method is locked nucleic acid (LNA) PCR. In this study, LNA probes were used to enhance the sensitivity for detecting FLT3 D835/I836 tyrosine kinase domain (TKD) mutations, the JAK2 V617F mutation and insertion mutations in the nucl...

Journal: :Medical Science and Discovery 2023

Objective: Acute myeloid leukemia (AML) is characterized by leukemic blasts that are not limited to the bone marrow or peripheral blood, may be presented with granulocytic sarcoma, and cells outside of blood called extramedullary involvement (EMI). Skin, bone, lymph nodes most prevalent locations illness. Granulocytic sarcoma (GS) should considered in differential diagnosis nodules, pustules, p...

2016
Sonia Carturan Jessica Petiti Valentina Rosso Chiara Calabrese Elisabetta Signorino Giada Bot-Sartor Paolo Nicoli Daniela Gallo Enrico Bracco Alessandro Morotti Cristina Panuzzo Enrico Gottardi Francesco Frassoni Giuseppe Saglio Daniela Cilloni

Meningioma 1 (MN1) gene overexpression has been reported in acute myeloid leukaemia (AML) patients and identified as a negative prognostic factor. In order to characterize patients presenting gene overexpression and to verify if MN1 transcript could be a useful marker for minimal residual disease detection, MN1 was quantified in 136 AML patients with different cytogenetic risk and in 50 normal ...

2013
Soyoung Park Youngil Koh Sung-Soo Yoon

This study evaluated the effects of somatic mutations and single nucleotide polymorphisms (SNPs) on disease progression and tried to verify the two-hit theory in cancer pathogenesis. To address this issue, SNP analysis was performed using the UCSC hg19 program in 10 acute myeloid leukemia patients (samples, G1 to G10), and somatic mutations were identified in the same tumor sample using Somatic...

Journal: :Medico-Legal Update 2021

Acute myeloid leukemia is a malignant disease results from mutation in multipotent haemopoietic stemcell. The study aimed to investigate NPM1 and FLT3-ITD mutations Iraqi patients with AML correlateresults other clinical laboratory findings. Fifty-eight patients, admitted Baghdad TeachingHospital October 2019 till March 2020 addition 25 normal controls, were included the study.A detailed histor...

2016
Sang-Yong Shin Seung-Tae Lee Hee-Jin Kim Eun Hae Cho Jong-Won Kim Silvia Park Chul Won Jung Sun-Hee Kim

We selected 19 significantly-mutated genes in AMLs, including FLT3, DNMT3A, NPM1, TET2, RUNX1, CEBPA, WT1, IDH1, IDH2, NRAS, ASXL1, SETD2, PTPN11, TP53, KIT, JAK2, KRAS, BRAF and CBL, and performed massively parallel sequencing for 114 patients with acute myeloid leukemias, mainly including those with normal karyotypes (CN-AML). More than 80% of patients had at least one mutation in the genes t...

2017
Olga Blau

Acute myeloid leukemia (AML) is a clonal disorder affecting pluripotent stem cells and is characterized by ineffective hematopoiesis. Most AML patients harbor cytogenetic and molecular defects that identify entities with peculiar biologic and clinical data and distinct therapeutic responses. Approximately 50%–60% of de novo AML and 80%–95% of secondary AML patients display chromosomal aberratio...

2014
Chiara Martinelli Emanuela Colombo Daniele Piccini Cristina Sironi Pier Giuseppe Pelicci Ario de Marco

The cytoplasmic accumulation of NPM1 (NPMc+) is found in acute myeloid leukemia (AML) with NPM1 mutation. NPM1 must shuttle between nucleus and cytoplasm to assure physiological protein synthesis and, therefore, the elimination of NPMc+ is not a suitable therapeutic option. We isolated, characterized, and produced a functional scFv intrabody fused to nuclear localization signal(s) (NLS) that do...

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