{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T15:00:35Z","timestamp":1777561235435,"version":"3.51.4"},"reference-count":22,"publisher":"BMJ","issue":"8","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Clin Pathol"],"accepted":{"date-parts":[[2016,4,22]]},"published-print":{"date-parts":[[2016,8]]},"abstract":"<jats:p>Gain-of-function mutations in <jats:italic>JAK2<\/jats:italic> are the molecular hallmarks of polycythaemia vera (PV), one of the myeloproliferative neoplasms. Most (\u223c95%) patients harbour V617F mutation in exon 15, while the rest have small insertion\/deletion mutations in exon 12. We investigated <jats:italic>JAK2<\/jats:italic> mutations in 42 Korean patients with PV. V617F was detected by sequencing and allele-specific PCR. When V617F was negative, sequencing and fragment length analyses were performed to detect exon 12 mutations. As a result, all patients had <jats:italic>JAK2<\/jats:italic> mutations: 37 (88%) harboured V617F, and 5 (12%) had exon 12 mutations. Two patients had novel exon 12 mutations (H538_R541delinsLII and F537_K539delinsVL). Genotype\u2013phenotype correlations demonstrated lower white blood cell and platelet counts in exon 12 mutations than V617F. The frequency of <jats:italic>JAK2<\/jats:italic> exon 12 mutations was higher than expected in Korean patients with PV. Molecular genetic testing for <jats:italic>JAK2<\/jats:italic> exon 12 mutations is mandatory for diagnosis and genotype\u2013phenotype correlations in patients with erythrocytosis and suspected PV.<\/jats:p>","DOI":"10.1136\/jclinpath-2016-203649","type":"journal-article","created":{"date-parts":[[2016,5,20]],"date-time":"2016-05-20T06:03:28Z","timestamp":1463724208000},"page":"737-741","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":10,"title":["High frequency of <i>JAK2<\/i> exon 12 mutations in Korean patients with polycythaemia vera: novel mutations and clinical significance"],"prefix":"10.1136","volume":"69","author":[{"given":"Chang-Hun","family":"Park","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sunkgyunkwan University School of Medicine, Seoul, 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