{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T07:52:49Z","timestamp":1740124369010,"version":"3.37.3"},"reference-count":6,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,6,12]],"date-time":"2018-06-12T00:00:00Z","timestamp":1528761600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["European J of Haematology"],"published-print":{"date-parts":[[2018,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Somatic <jats:italic><jats:styled-content style=\"fixed-case\">CALR<\/jats:styled-content><\/jats:italic> mutations have been identified in the majority of <jats:italic><jats:styled-content style=\"fixed-case\">JAK<\/jats:styled-content>2<\/jats:italic> mutation\u2010negative essential thrombocythaemia (<jats:styled-content style=\"fixed-case\">ET<\/jats:styled-content>) and primary myelofibrosis. Almost all <jats:italic><jats:styled-content style=\"fixed-case\">CALR<\/jats:styled-content><\/jats:italic> mutations have been reported to typically generate a +1\u2010base pair (bp) frameshift in the open reading frame. Here, we describe an <jats:styled-content style=\"fixed-case\">ET<\/jats:styled-content> patient with a +2\u2010bp frameshift <jats:italic><jats:styled-content style=\"fixed-case\">CALR<\/jats:styled-content><\/jats:italic> mutation. A 41\u2010year\u2010old man was admitted because of headache, and diagnosed as <jats:styled-content style=\"fixed-case\">JAK<\/jats:styled-content>2\u2010negative <jats:styled-content style=\"fixed-case\">ET<\/jats:styled-content>. After 4\u00a0years, his disease progressed to post\u2010<jats:styled-content style=\"fixed-case\">ET<\/jats:styled-content> myelofibrosis, and <jats:italic><jats:styled-content style=\"fixed-case\">CALR<\/jats:styled-content><\/jats:italic> mutation analysis demonstrated a +2\u2010bp frameshift <jats:italic><jats:styled-content style=\"fixed-case\">CALR<\/jats:styled-content><\/jats:italic> mutation caused by two different <jats:italic><jats:styled-content style=\"fixed-case\">CALR<\/jats:styled-content><\/jats:italic> mutations, c.1139_1151del and c.1211_1215delins<jats:styled-content style=\"fixed-case\">TTGA<\/jats:styled-content>, on the same allele. The resultant mutant protein sequence shared 19 amino acids with those from type 1 and type 2 <jats:italic><jats:styled-content style=\"fixed-case\">CALR<\/jats:styled-content><\/jats:italic> mutations, but the downstream C\u2010terminal sequences were different. To our knowledge, <jats:italic><jats:styled-content style=\"fixed-case\">CALR<\/jats:styled-content><\/jats:italic> double mutations causing +2\u2010bp frameshift are extremely rare. Identification of this novel type of <jats:italic><jats:styled-content style=\"fixed-case\">CALR<\/jats:styled-content><\/jats:italic> mutation has potential implications for better understanding of <jats:italic><jats:styled-content style=\"fixed-case\">CALR<\/jats:styled-content><\/jats:italic> oncogenesis.<\/jats:p>","DOI":"10.1111\/ejh.13076","type":"journal-article","created":{"date-parts":[[2018,4,4]],"date-time":"2018-04-04T14:45:16Z","timestamp":1522853116000},"page":"216-219","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A novel type of +2\u2010base pair frameshift <i><scp>CALR<\/scp><\/i> mutation in a patient with myeloproliferative neoplasm"],"prefix":"10.1111","volume":"101","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0553-7096","authenticated-orcid":false,"given":"Hyun\u2010Young","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine and Genetics Samsung Medical Center Sungkyunkwan University School of Medicine  Seoul Korea"},{"name":"Department of Laboratory Medicine Gyeongsang National University Hospital  Gyeongsang National University School of Medicine  Jinju Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jong\u2010Won","family":"Kim","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":"Sun\u2010Hee","family":"Kim","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":"Myung Hee","family":"Chang","sequence":"additional","affiliation":[{"name":"Division of Hematology\u2010Oncology Department of Internal Medicine National Health Insurance Service Ilsan Hospital  Goyang Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hee\u2010Jin","family":"Kim","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"}]}],"member":"311","published-online":{"date-parts":[[2018,6,12]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20081847"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1311347"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1312542"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2015.277"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2015-11-679571"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-016-2786-8"}],"container-title":["European Journal of Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fejh.13076","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ejh.13076","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T22:58:05Z","timestamp":1694905085000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ejh.13076"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6,12]]},"references-count":6,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,8]]}},"alternative-id":["10.1111\/ejh.13076"],"URL":"https:\/\/doi.org\/10.1111\/ejh.13076","archive":["Portico"],"relation":{},"ISSN":["0902-4441","1600-0609"],"issn-type":[{"type":"print","value":"0902-4441"},{"type":"electronic","value":"1600-0609"}],"subject":[],"published":{"date-parts":[[2018,6,12]]},"assertion":[{"value":"2018-03-26","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-06-12","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}