{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,12]],"date-time":"2025-08-12T21:57:25Z","timestamp":1755035845906},"reference-count":40,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,9,19]],"date-time":"2016-09-19T00:00:00Z","timestamp":1474243200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Blood Transfusion Research Center of High Institute for Research and Education in Transfusion Medicine"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Asia-Pac J Clncl Oncology"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aim<\/jats:title><jats:p>In recent years, a few cases of chronic myeloid leukemia (CML) have been reported with both <jats:italic>BCR\u2010ABL<\/jats:italic> and <jats:italic>JAK2V617F<\/jats:italic> mutations. Moreover, mutations in the additional sex comb\u2010like 1 (<jats:italic>ASXL1<\/jats:italic>) gene were recently shown in various myeloid malignancies.There were no previous studies investigating the incidence of the <jats:italic>ASXL1<\/jats:italic> and <jats:italic>JAK2V617F<\/jats:italic> mutations in Iranian patients with CML. Consequently, this study focuses on the analysis of these mutations in patients with CML.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In total, 66 patients with a clinical diagnosis of CML were examined at the time of diagnosis. Thirty healthy subjects were checked as controls. Exon 12 of <jats:italic>ASXL1<\/jats:italic> was amplified from genomic DNA and bidirectionally sequenced. We also performed <jats:italic>JAK2V617F<\/jats:italic> screening by amplification refractory mutation system\u2010polymerase chain reaction and sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Mutations in the <jats:italic>ASXL1<\/jats:italic> gene were found in five out of 66 CML patients (7.6%). We identified a novel variant (c.1968G &gt; A, p.Asp656Asn) in one of the patients that has <jats:italic>not<\/jats:italic> been <jats:italic>reported before<\/jats:italic>. We also identified <jats:italic>BCR\u2010ABL<\/jats:italic> and <jats:italic>JAK2V617F<\/jats:italic> mutations simultaneously in four patients (6%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our demonstration of <jats:italic>ASXL1<\/jats:italic> mutation, a putative tumor suppressor gene, represents an important molecular abnormality in CML. We also showed that concomitant detection of <jats:italic>BCR\u2010ABL<\/jats:italic> and <jats:italic>JAK2V617F<\/jats:italic> mutations has a relatively high incidence in Iranian patients.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ajco.12588","type":"journal-article","created":{"date-parts":[[2016,9,19]],"date-time":"2016-09-19T12:02:44Z","timestamp":1474286564000},"source":"Crossref","is-referenced-by-count":5,"title":["<i>ASXL1<\/i> and <i>JAK2V617F<\/i> gene mutation screening in Iranian patients with chronic myeloid leukemia"],"prefix":"10.1111","volume":"13","author":[{"given":"Amir","family":"Valikhani","sequence":"first","affiliation":[{"name":"Blood Transfusion Research Center High Institute for Research and Education in Transfusion Medicine  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Behzad","family":"Poopak","sequence":"additional","affiliation":[{"name":"Tehran Medical Branch Islamic Azad University  Tehran 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