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TranscriptomicsMultilineage dysplasia does not influence prognosis in patients with CEBPA mutated AML supporting the WHO proposal to classify these patients as a unique entity
By WHO 2008, CEBPA-mutated AML became a provisional subentity, but it remains to be clarified how CEBPAmut AML with multilineage dysplasia (MLD; ?50% dysplastic cells in 2-3 lineages) but no other MDS-related feature should be classified. We investigated 108 CEBPAmut AML (15.7-87.6 years) for the im...
ORGANISM(S): Homo sapiens 
2012-06-14 | E-GEOD-33223 | biostudies-arrayexpress
TranscriptomicsAcute myeloid leukemia with CEBPA double-mutations harbors in 76.8% of cases concomitant molecular mutations with TET2 and GATA2 alterations demonstrating strong prognostic impact
Acute myeloid leukemia (AML) with CEBPA mutations is determined as provisional entity in the current WHO. A difference in clinical outcome between single- (sm) and double-mutated (dm) cases has been reported, whereupon dm cases were shown to be associated with longer overall survival (OS). The occur...
ORGANISM(S): Homo sapiens 
2013-04-20 | E-GEOD-42064 | biostudies-arrayexpress
TranscriptomicsCDKN1B encoding the cyclin-dependent kinase inhibitor 1B (p27) is located in the minimally deleted region of 12p abnormalities in myeloid malignancies and its low expression is a favorable prognostic marker in acute myeloid leukemia
Alterations of the short arm of chromosome 12 (12p) occur in various hematological malignancies and ETV6 and CDKN1B, which are located on 12p, have been implicated as leukemogenic genes of interest. Design and Methods: We selected 7 patients with myeloid malignancies and small 12p deletions by FISH ...
ORGANISM(S): Homo sapiens 
2011-12-16 | E-GEOD-27832 | biostudies-arrayexpress
TranscriptomicsTranscription profiling of Multilineage Dysplasia (MLD) in AML correlates with MDS-related cytogenetic abnormalities and a prior history of MDS or MDS/MPN but has no independent prognostic relevance
Full Title: Multilineage Dysplasia (MLD) in AML correlates with MDS-related cytogenetic abnormalities and a prior history of MDS or MDS/MPN but has no independent prognostic relevance: A comparison of 408 cases classified as “AML not otherwise specified” or “AML with myelodysplasia-related changes” ...
ORGANISM(S): Homo sapiens 
2011-01-01 | E-GEOD-21261 | biostudies-arrayexpress
TranscriptomicsAML with mutated NPM1 carrying a normal or aberrant karyotype show overlapping features
AML with mutated NPM1 usually carries normal karyotype (NK) but it may harbor chromosomal aberrations whose significance remains unclear. We addressed this question in 631 AML patients with mutated/cytoplasmic NPM1. An abnormal karyotype (AK) was present in 93/631 cases (14.7%), the most frequent ab...
ORGANISM(S): Homo sapiens 
2009-06-01 | E-GEOD-16015 | biostudies-arrayexpress
TranscriptomicsMultilineage dysplasia and AML with mutated nucleophosmin
Multilineage dysplasia (MLD) has no impact on biological, clinico-pathological and prognostic features of AML with mutated nucleophosmin (NPM1) NPM1-mutated AML is a provisional entity in the WHO-2008 classification of myeloid neoplasms. The significance of concomitant multilineage dysplasia (MLD) i...
ORGANISM(S): Homo sapiens 
2010-07-30 | E-GEOD-18018 | biostudies-arrayexpress
TranscriptomicsRNA sequencing comparing different stages of leukemic progression in a mouse model of severe congenital neutropenia (SCN)
To address how Csf3r and RUNX1 mutations in combination with CSF3 administration affect hematopoiesis in vivo, we performed serial transplantation experiments. Lineage-negative Csfr-d715 BM cell cells were lentivirally transduced with the patient specific RUNX1-D171N (RHD) mutant or an empty vector ...
ORGANISM(S): Mus musculus 
2020-08-24 | E-MTAB-9377 | biostudies-arrayexpress
TranscriptomicsMethylation of the Proximal, Distal and Core Promoter of CEBPA in 572 Cases with Normal Karyotpye AML and 44 with t(8;21) Disclosed Different Frequencies but no Impact on Prognosis
The clinical impact of aberrant CEBPA promoter methylation (PM) in AML is controversial discussed. The aim of this study was to clarify the significance of aberrant CEBPA PM with regard to clinical features in a cohort of 572 de novo AML with wildtype CEBPA and normal karyotype. The distal promoter ...
ORGANISM(S): Homo sapiens 
2012-12-01 | E-GEOD-34733 | biostudies-arrayexpress
TranscriptomicsRNA sequencing comparing the transcriptome of a severe congenital neutropenia (SCN) patient who progressed to AML (SCN-AML) with the SCN phase and healthy controls
CD34+ hematopoietic stem progenitor cells (HSPCs) from cryo-preserved blood or bone marrow were FACS sorted in TriZol and RNA was isolated according to the manufacturer’s protocol. SMARTer Ultra Low Input RNA kit for sequencing (Clontech, v4 Cat# 634891) was used to generate cDNA. Sequencing librari...
ORGANISM(S): Homo sapiens 
2020-08-24 | E-MTAB-9381 | biostudies-arrayexpress
TranscriptomicsRNA sequencing comparing the effect of the introduction of RUNX1-D171N (RHD) in control- or SCN -CSF3R-d715 hematopoietic progenitor cells (HPCs)
To address how CSF3R and RUNX1 mutations affect hematopoiesis in a severe congenital neutropenia (SCN) background we used SCN patient, or control, derived induced pluripotent stem cells (iPSC). HPCs were generated from CRISPR-Cas9 genome edited CSF3R-d715 SCN or control-derived iPSCs with the STEMdi...
ORGANISM(S): Homo sapiens 
2020-08-24 | E-MTAB-9375 | biostudies-arrayexpress
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