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Blood, Vol. 111, Issue 3, 1686-1689, February 1, 2008
Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders
Blood Pietra et al.
111: 1686
Supplemental materials for: Pietra et al
Files in this Data Supplement:
- Document 1. Supplemental materials and methods (PDF, 833 KB)
- Table S1. Comparison of demographic and hematologic characteristics (PDF, 442 KB) -
These characteristics were in patients with sporadic JAK2 (V617F)-negative polycythemia vera that were found to carry a JAK2 exon 12 mutation and in those that were found to have only wild-type JAK2 exon 12 alleles by direct sequencing of PCR products amplified from circulating granulocytes. In the screening study for JAK2 exon 12 mutations, we initially analyzed granulocyte DNA from 47 JAK2 (V617F)-negative patients who had been previously diagnosed with sporadic PV at 3 different institutions (Pavia, Basel, Vienna) using either the Polycythemia Vera Study Group (PVSG) or the 2001 WHO criteria. In order to study a homogenous patient population, we included in this report only 26 patients that were diagnosed with sporadic PV using the 2001 WHO diagnostic criteria.
- Figure S1. Representative somatic mutations of JAK2 exon 12 (JPG, 221 KB)
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Direct sequencing chromatograms of DNA amplified from peripheral blood granulocytes and T lymphocytes are shown (reverse sequences). Traces reveal five acquired mutations in JAK2 exon 12 (indicated by arrowheads): three of them are 6-bp deletions and two are 33-bp duplications. In the two patients carrying JAK2 exon 12 duplications, two distinct bands were obtained on agarose gel electrophoresis following PCR amplification. The higher molecular weight band was extracted and sequenced, and the mutated duplicated sequence was obtained in both instances.
- Figure S2. Wild type sequence of JAK2 exon 12 (base 1603 to 1641) and mutations (in red) detected so far in patients with polycythemia vera or idiopathic erythrocytosis (JPG, 111 KB)
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In 4 cases, two or more mutant sequences can result in the same amino acid change.
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