tailieunhanh - Báo cáo y học: "Current findings for recurring mutations in acute myeloid leukemia"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Current findings for recurring mutations in acute myeloid leukemia. | Takahashi Journal of Hematology Oncology 2011 4 36 http content 4 1 36 JOURNAL OF HEMATOLOGY ONCOLOGY REVIEW Open Access Current findings for recurring mutations in acute myeloid leukemia Shinichiro Takahashi Abstract The development of acute myeloid leukemia AML is a multistep process that requires at least two genetic abnormalities for the development of the disease. The identification of genetic mutations in AML has greatly advanced our understanding of leukemogenesis. Recently the use of novel technologies such as massively parallel DNA sequencing or high-resolution single-nucleotide polymorphism arrays has allowed the identification of several novel recurrent gene mutations in AML. The aim of this review is to summarize the current findings for the identification of these gene mutations Dnmt TET2 IDH1 2 NPM1 ASXL1 etc. most of which are frequently found in cytogenetically normal AML. The cooperative interactions of these molecular aberrations and their interactions with class I II mutations are presented. The prognostic and predictive significances of these aberrations are also reviewed. Keywords gene mutations acute myeloid leukemia cooperative interactions Introduction The identification of mutations in certain genes such as the fms-related tyrosine kinase 3 FLT3 CCAAT enhancer binding protein alfa C EBPa runt-related transcription factor 1 RUNX1 myeloid-lymphoid or mixed lineage leukemia MLL Wilms tumor WT1 and nucleophosmin NPM 1 genes in acute myeloid leukemia AML has significantly improved our understanding of leukemogenesis 1-4 . This is particularly the case for patients with normal cytogenetics who comprise the largest subgroup approximately 45 of AML patients 5-7 . In fact assessments of the presence of internal tandem duplications in the FLT3 receptor gene FLT3-ITD 8 and mutations in the NPM1 gene 4 are currently routine practices in guiding therapeutic decisions in AML patients with a normal karyotype 9 . Recent studies have .