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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
TranscriptomicsAberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome
Somatic mutations in the spliceosome gene ZRSR2 (located on the X chromosome) are associated with myelodysplastic syndrome (MDS). ZRSR2 is involved in the recognition of 3' splice site during the early stages of spliceosome assembly; however, its precise role in RNA splicing has remained unclear. He...
ORGANISM(S): Homo sapiens 
2015-01-15 | E-GEOD-63816 | biostudies-arrayexpress
TranscriptomicsWhole-exome sequencing identifies mutations of BCOR in acute myeloid leukemia with normal karyotype
Among acute myeloid leukemias (AML) with normal karyotype (CN-AML), NPM1 and CEBPA mutations define WHO provisional entities accounting for ~60% of cases, but the remaining ~40% remains poorly characterized. By whole exome-sequencing (WES) of one CN-AML patient lacking mutations in NPM1, CEBPA, FLT3...
ORGANISM(S): Homo sapiens 
2011-12-16 | E-GEOD-30442 | biostudies-arrayexpress
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