{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,11]],"date-time":"2026-07-11T14:32:47Z","timestamp":1783780367234,"version":"3.55.0"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2021,3,25]],"date-time":"2021-03-25T00:00:00Z","timestamp":1616630400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,3,25]],"date-time":"2021-03-25T00:00:00Z","timestamp":1616630400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["18ek0109366h0001"],"award-info":[{"award-number":["18ek0109366h0001"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["19ek0109366h0002"],"award-info":[{"award-number":["19ek0109366h0002"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Int J Hematol"],"published-print":{"date-parts":[[2021,8]]},"DOI":"10.1007\/s12185-021-03136-4","type":"journal-article","created":{"date-parts":[[2021,3,25]],"date-time":"2021-03-25T22:40:18Z","timestamp":1616712018000},"page":"297-300","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["ETV6-related thrombocytopenia associated with a transient decrease in von Willebrand factor"],"prefix":"10.1007","volume":"114","author":[{"given":"Yuri","family":"Kanamaru","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toru","family":"Uchiyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadashi","family":"Kaname","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kumiko","family":"Yanagi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osamu","family":"Ohara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinji","family":"Kunishima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3896-5313","authenticated-orcid":false,"given":"Akira","family":"Ishiguro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,3,25]]},"reference":[{"key":"3136_CR1","doi-asserted-by":"publisher","first-page":"282","DOI":"10.3324\/haematol.2016.147694","volume":"102","author":"M Poggi","year":"2017","unstructured":"Poggi M, Canault M, Favier M, Turro E, Saultier P, Ghalloussi D, et al. Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulation CD34+ progenitors. Haematologica. 2017;102:282\u201394.","journal-title":"Haematologica"},{"key":"3136_CR2","doi-asserted-by":"publisher","first-page":"535","DOI":"10.1038\/ng.3253","volume":"47","author":"L Noetzli","year":"2015","unstructured":"Noetzli L, Lo RW, Lee-Sherick AB, Callaghan M, Noris P, Savioa A, et al. Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. Nat Genet. 2015;47:535\u20138.","journal-title":"Nat Genet"},{"key":"3136_CR3","doi-asserted-by":"publisher","first-page":"1659","DOI":"10.1016\/S1470-2045(15)00369-1","volume":"16","author":"T Moriyama","year":"2015","unstructured":"Moriyama T, Metzger ML, Wu G, Nishii R, Qian M, Devidas M, et al. Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukemia: a systematic genetic study. Lancet Oncol. 2015;16:1659\u201366.","journal-title":"Lancet Oncol"},{"key":"3136_CR4","doi-asserted-by":"publisher","first-page":"1333","DOI":"10.3324\/haematol.2016.147496","volume":"101","author":"F Melazzini","year":"2016","unstructured":"Melazzini F, Palombo F, Balduini A, De Rocco D, Marconi C, Noris P, et al. Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia. Haematologica. 2016;101:1333\u201342.","journal-title":"Haematologica"},{"key":"3136_CR5","doi-asserted-by":"publisher","first-page":"663","DOI":"10.1182\/blood.2019852418","volume":"134","author":"J Di Paola","year":"2019","unstructured":"Di Paola J, Porter CC. ETV6-related thrombocytopenia and leukemia predisposition. Blood. 2019;134:663\u20137.","journal-title":"Blood"},{"key":"3136_CR6","doi-asserted-by":"publisher","first-page":"2063","DOI":"10.1111\/j.1538-7836.2010.03975.x","volume":"8","author":"F Rodeghiero","year":"2010","unstructured":"Rodeghiero F, Tosetto A, Abshire T, Arnold DM, Coller B, James P, et al. ISTH\/SCC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders. J Thromb Haemost. 2010;8:2063\u20135.","journal-title":"J Thromb Haemost"},{"key":"3136_CR7","doi-asserted-by":"publisher","first-page":"572","DOI":"10.1016\/j.jmoldx.2018.04.004","volume":"20","author":"R Fujiki","year":"2018","unstructured":"Fujiki R, Ikeda M, Yoshida A, Maeda A, Yao Y, Nishimura A, et al. Assessing the accuracy of variant detection in cost-effective gene panel testing by next-generation sequencing. J Mol Diagn. 2018;20:572\u201382.","journal-title":"J Mol Diagn"},{"key":"3136_CR8","doi-asserted-by":"publisher","first-page":"180","DOI":"10.1038\/ng.3177","volume":"47","author":"MY Zhang","year":"2015","unstructured":"Zhang MY, Churpek JE, Keel SB, Walsh T, Lee MK, Loeb KR, et al. Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Nat Genet. 2015;47:180\u20135.","journal-title":"Nat Genet"},{"key":"3136_CR9","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1007\/s12185-017-2259-4","volume":"106","author":"S Feurstein","year":"2017","unstructured":"Feurstein S, Godley LA. Germline ETV6 mutations and predisposition to hematological malignancies. Int J Hematol. 2017;106:189\u201395.","journal-title":"Int J Hematol"},{"key":"3136_CR10","doi-asserted-by":"publisher","first-page":"795","DOI":"10.1182\/blood-2018-10-844936","volume":"133","author":"M Lavin","year":"2019","unstructured":"Lavin M, O\u2019Donnell JS. How I treat low von Willebrand factor levels. Blood. 2019;133:795\u2013804.","journal-title":"Blood"},{"key":"3136_CR11","doi-asserted-by":"publisher","first-page":"2344","DOI":"10.1182\/blood-2017-05-786699","volume":"130","author":"M Lavin","year":"2017","unstructured":"Lavin M, Aguila S, Schneppenheim S, Dalton N, Jones KL, O\u2019Sullivan JM, et al. Novel insights into the clinical phenotype and pathophysiology underlying low VWF levels. Blood. 2017;130:2344\u201353.","journal-title":"Blood"},{"key":"3136_CR12","doi-asserted-by":"publisher","first-page":"335","DOI":"10.1161\/hq0202.103997","volume":"22","author":"J O\u2019Donnell","year":"2002","unstructured":"O\u2019Donnell J, Boulton FE, Manning RA, Laffan MA. Amount of H antigen expressed on circulation von Willebrand factor is modified by ABO blood group genotype and is a major determinant of plasma von Willebrand factor antigen levels. Arterioscler Thromb Vasc Biol. 2002;22:335\u201341.","journal-title":"Arterioscler Thromb Vasc Biol"}],"container-title":["International Journal of Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12185-021-03136-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12185-021-03136-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12185-021-03136-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,7,22]],"date-time":"2021-07-22T10:15:32Z","timestamp":1626948932000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12185-021-03136-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,25]]},"references-count":12,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,8]]}},"alternative-id":["3136"],"URL":"https:\/\/doi.org\/10.1007\/s12185-021-03136-4","relation":{},"ISSN":["0925-5710","1865-3774"],"issn-type":[{"value":"0925-5710","type":"print"},{"value":"1865-3774","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,3,25]]},"assertion":[{"value":"2 November 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 March 2021","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 March 2021","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 March 2021","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare that they have no conflicts of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"This study was approved by the Ethics Committees of the National Center for Child Health and Development in May, 2018 (#1818). Informed consent for this report was obtained from the patient and her parents.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}]}}