نتایج جستجو برای: ژن npm1
تعداد نتایج: 16927 فیلتر نتایج به سال:
Based on molecular aberrations, in particular the NPM1 mutation (NPM1(mut)) and the FLT3 internal tandem duplication (Flt3-ITD), prognostic subgroups have been defined among patients with acute myeloid leukemia with normal karyotype. Whereas these subgroups are known to play an important role in outcome in first complete remission, and also in the indication for allogeneic stem cell transplanta...
BACKGROUND The level of minimal residual disease (MRD) in acute myeloid leukemia (AML) at early time points (TPs) may be an important prognostic factor. Although internal tandem duplication of FLT3 (FLT3-ITD) as an MRD marker has been questioned for its instability based on semi-quantitative methods, we hypothesized that FLT3-ITD dynamics measured by sensitive quantitative real-time PCR at earl...
Upon a wide range of cellular stresses, p53 is activated and inhibits malignant transformation through the transcriptional regulation of its target genes related to apoptosis, cell cycle arrest, and DNA repair. However, its involvement in posttranslational modifications of proteins has not yet been well characterized. Here, we report the novel role of p53 in the regulation of protein citrullina...
Molecular diagnostics for the detection and characterization of genetic variants is based in majority cases on PCR technology. Since primers probes are designed according to nucleotide sequence DNA region specific mutation, technology can only be applied if mutation well known. In where mutated a gene may have variable sequences, different between patients, set each variant necessary, which inv...
Among acute myeloid leukemia (AML) patients with a normal karyotype (CN-AML), NPM1 and CEBPA mutations define World Health Organization 2008 provisional entities accounting for approximately 60% of patients, but the remaining 40% are molecularly poorly characterized. Using whole-exome sequencing of one CN-AML patient lacking mutations in NPM1, CEBPA, FLT3-ITD, IDH1, and MLL-PTD, we newly identi...
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...
Acute myeloid leukemia (AML) is a heterogeneous disease. Even within the same NPM1-mutated genetic subgroup, some patients harbor additional mutations in FLT3, IDH1/2, DNMT3A or TET2. Recent studies have shown the prognostic significance of minimal residual disease (MRD) in AML but it remains to be determined which molecular markers are the most suitable for MRD monitoring. Recent advances in n...
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...
بیماری سرطان خون پرومیلوسیتیک حاد (apl) با جابجایی کروموزومی t(15;17) همراه است که منجر به ایجاد پروتئین pml-rara می شود. بررسی مدلهای حیوانی نشان داده اند که اگرچه در این بیماری وجود این پروتئین الحاقی ضروری است ولی به تنهایی برای توسعه بیماری کافی نیست. با مطالعه آرایه های بیماران و مدلهای حیوانی apl نواحی کروموزومی که غالبا" دچار حذف یا تکثیر می شوند انتخاب شدند. 11 ناحیه ژنی شامل tp53، cmyc...
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