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| 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.
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| Overall design |
29 patients analyzed with gene expression microarrays.
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| 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 |
| E-mail(s) |
h.klein@uni-muenster.de
|
| 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 |
| |
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| Platforms (1) |
| GPL570 |
[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array |
|
| Samples (29)
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| 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 |
|
| Relations |
| BioProject |
PRJNA144567 |
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