Publikationsdatum:
2007-11-16
Beschreibung:
The genetic events responsible for the initiation and progression of AML are unknown for most patients. Although many important mutations for pathogenesis have been discovered, unbiased genomic approaches will be required to discover all relevant mutations. The development of “Next Generation” massively parallel sequencing approaches (454 and Solexa) have substantially reduced the cost of whole genome sequencing, and have allowed us to initiate a study designed to identify all potentially relevant mutations in a case of M1 AML. The first patient selected for study was a previously healthy 57-year-old Caucasian female who presented with a white blood count of 102,500 (91% blasts); the bone marrow biopsy revealed 100% blasts. Cytogenetics were normal. Tumor and skin (normal) samples were banked with informed consent, using our Washington University IRB-approved protocol that specifically permits whole genome sequencing. Resequencing of 14 genes frequently mutated in AML revealed somatic mutations in FLT3 (ITD) and NPM. Oligomer array-based comparative genomic hybridization using the 2.1 million-oligomer NimbleGen array revealed only one small (
Print ISSN:
0006-4971
Digitale ISSN:
1528-0020
Thema:
Biologie
,
Medizin
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