نتایج جستجو برای: internal tandem duplication

تعداد نتایج: 302669  

Journal: :The Indian journal of medical research 2009
Sudha Sazawal Bijender Kumar Syed Khizer Hasan Pankhi Dutta Rajat Kumar Rekha Chaubey Rashid Mir Renu Saxena

BACKGROUND & OBJECTIVE Recurrent balanced translocations are generally recognized to be a major parameter for prognostication in acute myeloid leukaemia (AML). The chromosomal translocation t(15;17) results in PML/RARalpha fusion gene, t(8;21) results in AML1/ETO fusion gene and Inv 16 generates CBFbeta/MYH11 fusion gene. Patients with these mutations have a good prognosis unlike abnormalities ...

Journal: :Pediatric blood & cancer 2008
Akira Shimada Tomohiko Taki Ken Tabuchi Takeshi Taketani Ryoji Hanada Akio Tawa Masahiro Tsuchida Keizo Horibe Ichiro Tsukimoto Yasuhide Hayashi

BACKGROUND Mixed-lineage leukemia (MLL)-partial tandem duplication (PTD) is associated with poor prognosis in adult acute myeloid leukemia (AML), but its relationship to pediatric AML is unknown. PROCEDURE One hundred fifty-eight newly diagnosed AML patients, including 13 FAB-M3 and 10 Down syndrome (DS) patients, who were treated on the Japanese Childhood AML Cooperative Treatment Protocol A...

Journal: :Blood 2011
Susanne Schnittger Frank Dicker Wolfgang Kern Nicole Wendland Jana Sundermann Tamara Alpermann Claudia Haferlach Torsten Haferlach

Analyses of 164 RUNX1 mutations (RUNX1mut) in 147 of 449 patients (32.7%) with normal karyotype or noncomplex chromosomal imbalances were performed. RUNX1mut were most frequent in acute myeloid leukemia French-American-British classification M0 (65.2%) followed by M2 (32.4%) and M1 (30.2%). Considering cytogenetics, RUNX1mut were most frequent in cases with +13 (27 of 30, 90%), whereas frequenc...

2006
Krzysztof Mrózek Guido Marcucci Peter Paschka Susan P. Whitman Clara D. Bloomfield

Recent molecular analyses of leukemic blasts from pretreatment marrow or blood of patients with acute myeloid leukemia (AML) and a normal karyotype, the largest cytogenetic subset (ie, 40%-49%) of AML, have revealed a striking heterogeneity with regard to the presence of acquired gene mutations and changes in gene expression. Multiple submicroscopic genetic alterations with prognostic significa...

Journal: :Blood 2004
Kazutaka Ozeki Hitoshi Kiyoi Yuka Hirose Masanori Iwai Manabu Ninomiya Yoshihisa Kodera Shuichi Miyawaki Kazutaka Kuriyama Chihiro Shimazaki Hideki Akiyama Miki Nishimura Toshiko Motoji Katsuji Shinagawa Akihiro Takeshita Ryuzo Ueda Ryuzo Ohno Nobuhiko Emi Tomoki Naoe

Although FLT3 mutations are essentially found in myeloid-lineage leukemia cells, a high level of FLT3 expression was recently observed in MLL gene-rearranged acute lymphoblastic leukemia without FLT3 mutations. Here, we analyzed the biologic and clinical significance of the FLT3 transcript level in comparison with several gene alterations in 181 de novo acute myeloid leukemia (AML) cases. The m...

2017
Claudia Paret Alexandra Russo Henrike Otto Arnulf Mayer Sebastian Zahnreich Wolfgang Wagner David Samuel David Scharnhorst David A. Solomon Girish Dhall Kenneth Wong Hannah Bender Francesca Alt Arthur Wingerter Marie A. Neu Olaf Beck Dirk Prawitt Stefan Eder Nicole Henninger Khalifa El Malki Nadine Lehmann Nora Backes Lea Roth Larissa Seidmann Clemens Sommer Marc A. Brockmann Gundula Staatz Heinz Schmidberger Jörg Faber

High-grade neuroepithelial tumor of the central nervous system with BCOR alteration (HGNET-BCOR) is a rare, highly malignant tumor. At the time of this publication, no standard protocol exists to treat this tumor entity. In this work, we tested the responsiveness of the primary culture PhKh1 derived from tumor tissue from a pediatric HGNET-BCOR patient (P1) to inhibitors of the Sonic hedgehog p...

2014
Yin Liu Jingyan Tang Peter Wakamatsu Huiliang Xue Jing Chen Paul S. Gaynon Shuhong Shen Weili Sun

BACKGROUND Molecular genetic alterations with prognostic significance have been described in childhood acute myeloid leukemia (AML). The aim of this study was to establish cost-effective techniques to detect mutations of FMS-like tyrosine kinase 3 (FLT3), nucleophosmin 1 (NPM1), and a partial tandem duplication within the mixed-lineage leukemia (MLL-PTD) genes in childhood AML. PROCEDURE Nine...

Journal: :The New England journal of medicine 2012
Gillian Horne John Brewin Timothy Chevassut

To the Editor: In their article on the prognostic relevance of integrated genetic profiling in patients with acute myeloid leukemia (AML), Patel et al. (March 22 issue)1 propose an elaborate riskstratification system for refining prognosis for patients with intermediate-risk AML. This stratification is based on mutational analysis by DNA sequencing of 10 individual leukemia genes in addition to...

2015
Jingyin Yu Tao Ke Sadia Tehrim Fengming Sun Boshou Liao Wei Hua

Tandem duplication is a wide-spread phenomenon in plant genomes and plays significant roles in evolution and adaptation to changing environments. Tandem duplicated genes related to certain functions will lead to the expansion of gene families and bring increase of gene dosage in the form of gene cluster arrays. Many tandem duplication events have been studied in plant genomes; yet, there is a s...

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