Homo sapiens
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ABSTRACT:
PROVIDER: PRJNA311980 | ENA |
REPOSITORIES: ENA
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Project description:Comprehensive mutational analysis of primary and relapse acute promyelocytic leukemia
| PRJNA312173 | ENA
Project description:Acute promyelocytic leukemia (APL) is a subtype of myeloid leukemia characterized by differentiation block at the promyelocyte stage. Besides the presence of chromosomal rearrangement t(15;17) leading to formation of PML-RARA fusion, other genetic alterations have also been implicated in APL. Here, we performed comprehensive mutational analysis of primary and relapse APL to identify somatic alterations which cooperate with PML-RARA in the pathogenesis of APL. We explored the mutational landscape using whole-exome (n=12) and subsequent targeted sequencing of 398 genes in 153 primary and 69 relapse APL. Both primary and relapse APL harbored an average of eight non-silent somatic mutations per exome. We observed recurrent alterations of FLT3, WT1, NRAS and KRAS in the newly diagnosed APL, while mutations in other genes commonly mutated in myeloid leukemia were rarely detected. The molecular signature of APL relapse was characterized by emergence of frequent mutations in PML and RARA genes. Our sequencing data also demonstrates incidence of loss-of-function mutations in previously unidentified genes, ARID1B and ARID1A, both of which encode for key components of the SWI/SNF complex. We show that knockdown of ARID1B in APL cell line, NB4, results in large scale activation of gene expression and reduced in vitro differentiation potential. Studying the effects of silensing ARID1B gene in NB4 cell lines
2016-02-17 | E-GEOD-77946 | biostudies-arrayexpress
Project description:Acute promyelocytic leukemia (APL) is a subtype of myeloid leukemia characterized by differentiation block at the promyelocyte stage. Besides the presence of chromosomal rearrangement t(15;17) leading to formation of PML-RARA fusion, other genetic alterations have also been implicated in APL. Here, we performed comprehensive mutational analysis of primary and relapse APL to identify somatic alterations which cooperate with PML-RARA in the pathogenesis of APL. We explored the mutational landscape using whole-exome (n=12) and subsequent targeted sequencing of 398 genes in 153 primary and 69 relapse APL. Both primary and relapse APL harbored an average of eight non-silent somatic mutations per exome. We observed recurrent alterations of FLT3, WT1, NRAS and KRAS in the newly diagnosed APL, while mutations in other genes commonly mutated in myeloid leukemia were rarely detected. The molecular signature of APL relapse was characterized by emergence of frequent mutations in PML and RARA genes. Our sequencing data also demonstrates incidence of loss-of-function mutations in previously unidentified genes, ARID1B and ARID1A, both of which encode for key components of the SWI/SNF complex. We show that knockdown of ARID1B in APL cell line, NB4, results in large scale activation of gene expression and reduced in vitro differentiation potential.
2016-02-17 | GSE77946 | GEO
Project description:Differential gene expression profile of newly diagnosed versus relapse acute promyelocytic leukemia
| PRJNA178949 | ENA
Project description:The aim of this study was to gain insight into the potential mechanism of resistance to arsenic trioxide and to identify genes that are modulated in the malignant promyelocytes at the time of relapse in APL patients. We analyzed the gene expression profile by the whole genome microarray of primary promyelocytes obtained from 8 newly diagnosed and 8 at relapse patients. Agilent one-color experiment,Organism: Human ,Agilent Whole Genome Human 4x44k (AMADID: 014850) , Labeling kit: Agilent Quick-Amp labeling Kit (p/n5190-0442) newly diagnosed versus relapse acute promyelocytic leukemia
2013-08-02 | E-GEOD-42030 | biostudies-arrayexpress
Project description:SNP data of acute promyelocytic leukemia samples
| PRJNA112439 | ENA
Project description:Variant acute promyelocytic leukemia (APL) bone marrow aCGH
| PRJNA184017 | ENA
Project description:ATRA is an active metabolite of vitamin A that is frequently used for the treatment of acute promyelocytic leukemia (APL) patients. Despite the success of this treatment, some APL patients are refractory or relapse. This emphasis the need for new therapeutic strategies aiming to improve the anti-cancer effect of ATRA. We and other have previously shown that autophagy is activated during ATRA-induced granulocytic differentiation of acute promyelocytic leukemia cells. Although the transcription effect of ATRA on autophagy has been well-documented, little is known on the post-transcription/ post-translational regulation autophagy in response to ATRA. Given the importance of calcium ions in the control of autophagy, we hypothesized that calcium ions are involved in the initiation of autophagy by ATRA in APL cells. We thus examined how ATRA regulate intracellular calcium and sense perturbation of Ca2+ responses to autophagy, differentiation and cell death in APL cells.
2021-11-24 | PXD026904 | Pride
Project description:Comprehensive genomic analysis of relapse neuroblastoma [methylation]
| PRJNA273717 | ENA
Project description:Comprehensive genomic analysis of relapse neuroblastoma [arrayCGH]
| PRJNA273713 | ENA