Genetic profiling of myeloproliferative disorders by single-nucleotide polymorphism oligonucleotide microarray.

ABSTRACT:

Objective

Myeloproliferative disorders (MPD) are clonal hematopoietic diseases that include polycythemia vera (PV), essential thrombocytosis (ET), and primary myelofibrosis (PMF). Mutations in JAK2 are present in many MPD patients. Additional genomic abnormalities are not fully examined in MPD.

Materials and methods

We used single-nucleotide polymorphism DNA microarray (SNP-chip) to analyze 43 patients with MPD (10 PV, 17 ET, and 16 PMF) for genomic aberrations.

Results

Genomic abnormalities were rare in ET. The region containing either RB (13q14) or NF1 (17q11) was deleted in 4 of the 16 PMF, especially PMF with no JAK2 mutations. All five cases of PV having homozygous JAK2V617F had loss of heterozygosity with normal copy number [uniparental disomy] involving the gen

SUBMITTER: Kawamata N 

PROVIDER: S-EPMC5519083 | biostudies-literature | 2008 Nov

REPOSITORIES: biostudies-literature