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Series GSE30599 Query DataSets for GSE30599
Status Public on Nov 25, 2011
Title EZH2 mutations can be detected in 23% of PICALM-MLLT10 (CALM-AF10) positive acute leukemias
Organism Homo sapiens
Experiment type Expression profiling by array
Summary Interest focuses on genes encoding histone demethylases in hematologic malignancies, such as EZH2 (enhancer of zeste homolog 2). EZH2 mutations were recurrently observed in lymphomas and chronic myeloid malignancies, but data in acute leukemias are limited. We investigated 13 PICALM-MLLT10 (=CALM-AF10) rearranged acute leukemia predominantly of T-lineage (7 m/6 f; 6–53 years) by deep-sequencing for EZH2mut and identified 3 (23%) EZH2mut carriers: one splice site mutation in exon 14, while two patients had missense mutations in the D1 region of exon 5 which interacts with different DNA methyltransferase genes (but no DNMT3Amut was detected in the 13 PICALM-MLLT10-positive patients).
In contrast, no EZH2mut was found in an independent cohort of 12 PICALM-MLLT10-negative T-ALL. Gene expression profiling revealed increased expression of genes with a role for transcription or intracellular transport processes in the PICALM-MLLT10-positive cases. The frequent occurrence of EZH2mut in PICALM-MLLT10-positive malignancies emphasizes a cooperative effect in acute leukemias.
Overall design 29 patients analyzed with gene expression microarrays.
Contributor(s) Grossmann V, Bacher U, Kohlmann A, Artusi V, Klein H, Dugas M, Schnittger S, Alpermann T, Kern W, Haferlach T, Haferlach C
Citation(s) 22235851
Submission date Jul 12, 2011
Last update date Mar 25, 2019
Contact name Hans-Ulrich Klein
Organization name Columbia University Medical Center
Department Neurology
Lab Center for Translational and Computational Neuroimmunology
Street address 622 W 168th St
City New York
State/province NY
ZIP/Postal code 10032
Country USA
Platforms (1)
GPL570 [HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array
Samples (29)
GSM759014 T-cell ALL PICALM-MLLT10 fusion MLL_00201
GSM759015 T-cell ALL PICALM-MLLT10 fusion MLL_00202
GSM759016 T-cell ALL PICALM-MLLT10 fusion MLL_00203
BioProject PRJNA144567

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Supplementary file Size Download File type/resource
GSE30599_RAW.tar 133.2 Mb (http)(custom) TAR (of CEL)
Raw data provided as supplementary file
Processed data included within Sample table

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