{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T13:46:05Z","timestamp":1776087965040,"version":"3.50.1"},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,11,6]],"date-time":"2019-11-06T00:00:00Z","timestamp":1572998400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,11,6]],"date-time":"2019-11-06T00:00:00Z","timestamp":1572998400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Atypical chronic myeloid leukemia (aCML) is a hematologic disorder characterized by leukocytosis with increased dysplastic neutrophils and their precursors. In CSF3R gene, the activation mutation including T618I is frequently reported in aCML but is rarely accompanied by truncation mutations. Herein, we report a unique aCML patient with two CSF3R mutations (T618I and Y779*) in the same DNA strand.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>High\u2010coverage next\u2010generation sequencing for 40 genes related with myeloid leukemia was performed. Sanger sequencing was performed to confirm CSF3R mutations. To confirm whether two CSF3R mutations are in cis or not, TA cloning was used. Clinical information and bone marrow pathology were reviewed by two hematopathologists.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      In the patient diagnosed with aCML in bone marrow study, two\n                      <jats:italic>CSF3R<\/jats:italic>\n                      mutations, (T618I and Y779*) a\n                      <jats:italic>SETBP1<\/jats:italic>\n                      mutation (G870S) and an\n                      <jats:italic>U2AF1<\/jats:italic>\n                      mutation (Q157P), were identified by high\u2010coverage next\u2010generation sequencing. The two CSF3R mutations were confirmed to be located in the same DNA strand by TA cloning, indicating that the two mutations are harbored in one malignant clone. The\n                      <jats:italic>SETBP1<\/jats:italic>\n                      mutation is known to be related with poor prognosis in aCML. Likewise, the patient was refractory to hydroxyurea and showed disease progression. Additionally, we discussed the potential therapeutic targets by reviewing the molecular profile of the patient.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>We believe that the accurate diagnosis and maximum therapeutic chance could be achieved by profiling the mutations and their characteristics.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/jcla.23064","type":"journal-article","created":{"date-parts":[[2019,11,6]],"date-time":"2019-11-06T06:47:09Z","timestamp":1573022829000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Next\u2010generation sequencing reveals unique combination of mutations in cis of\n                    <i>CSF3R<\/i>\n                    in atypical chronic myeloid leukemia"],"prefix":"10.1002","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9029-8036","authenticated-orcid":false,"given":"Jae Won","family":"Yun","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine and Genetics Samsung Medical Center Sungkyunkwan University School of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9296-5085","authenticated-orcid":false,"given":"Jung","family":"Yoon","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Genetics Samsung Medical Center Sungkyunkwan University School of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chul Won","family":"Jung","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Samsung Medical Center Sungkyunkwan University School of Medicine Seoul 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