Cytogenetics

The most common cytogenetic result in PV at diagnosis is a normal study; less frequently, the following abnormalities may occur: +8, +9 (may occur concurrently); del(20)(q11q13) is also relatively common. A number of other abnormalities occur more rarely— del(1)(p11), del(3)(p11p14), t(1;6)(q11,p21), and t(1;9) (q10p10).13 Recent studies suggest that abnormalities of chromosome 9p may be the most common abnormality in PV.14 This may arise due to uniparental disomy resulting in loss of heterozygosity and occurs in up to 30% of PV.15 This is the location of the JAK2 gene and mitotic recombination is the mechanism for progressing from heterozygous to homozygous V617F JAK2.3'5

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