Detection of mutations in JAK2 exons 12–15 by Sanger sequencing. (11th September 2015)

• Record Type: Journal Article
• Authors: Alghasham, N.; Alnouri, Y.; Abalkhail, H.; Khalil, S.
• Is Part Of: International journal of laboratory hematology. Volume 38:Number 1(2016:Feb.)
• Page Start: 34
• Page End: 41
• Publication Date: 2015-09-11
• Subjects: JAK2 mutation -- MPNs -- essential thrombocythemia -- polycythemia vera -- primary myelofibrosis; Hematology -- Periodicals; Blood -- Diseases -- Periodicals; Hematology -- Periodicals; 616.15005
• DOI: 10.1111/ijlh.12425
• Languages: English
• ISSNs: 1751-5521

Abstract

Summary: Introduction: The Janus kinase ( JAK ) 2 p.V617F gain‐of‐function mutation is a hallmark of BCR ‐ABL1 ‐negative myeloproliferative neoplasms (MPNs). This study analyzed JAK2 mutations in 1811 patients tested between 2010 and 2013. Methods: Exons 12–15 of JAK2 were sequenced in 1706 samples, and patients harboring mutations were clinically evaluated. Results: Of 271 patients (16%) with JAK2 mutations, 148 (54.6%) were female and 123 (45.4%) were male; 103 (38%) were local and 168 (62%) were referred; and 13 (5%) had additional genetic abnormalities. The median patient age was 54 years, and there was only one pediatric patient. In agreement with previous reports, 262 patients (96.7%) were positive for the JAK2 p.V617F mutation. Non‐p.V617F JAK2 mutations were detected in the remaining nine (3.3%) patients: five (1.8%) had a p.G571S mutation, and one (0.3%) each had p.E543_D544del, p.Y570Y silent, p.R541_E543delinsK, and p.I540_N542delinsM mutations. Diagnosis of 103 (38%) in‐house cases revealed a predominance of MPN patients (87 cases, or 84.4%). Conclusion: JAK2 p.V617F was the most prevalent mutation detected among patients in this study. Non‐p.V617F JAK2 mutations were identified in exons 12 and 13 corresponding to recently reported mutations, except for the novel p.I540_N542delinsM.