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Acquisition of additional mutations drives accelerated progression of NPM1 positive CMML to AML

This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ We performed exome sequencing on serial samples from a patient with CMML who progressed to AML. The exome sequencing suggests that NPM1, TET2 and DNMT3a mutations were present in the dominant clone in the CMML sample and that NRAS is a new subclonal mutation in the AML sample. Diagnostic data shows the presence of a FLT3-ITD mutation in the AML sample, which is likely to have driven progression. Here we are performing re-sequencing of the putative driver and some passenger mutations which appear to be in the same clone to validate these mutations and to verify the relative quantification of these abnormalities .

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Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS00001000619 Resequencing

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Located in
EGAF00000485383 cram 261.6 MB
EGAF00000485384 cram 268.8 MB
EGAF00000485385 cram 210.5 MB
EGAF00000485386 cram 232.5 MB
EGAF00000485387 cram 216.9 MB
EGAF00000485388 cram 236.5 MB
EGAF00000485389 cram 205.6 MB
EGAF00000485390 cram 234.2 MB
EGAF00000485391 cram 248.8 MB
EGAF00000485392 cram 154.3 MB
10 Files (2.3 GB)