{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T23:23:12Z","timestamp":1772148192144,"version":"3.50.1"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T00:00:00Z","timestamp":1756252800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T00:00:00Z","timestamp":1756252800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Ann Hematol"],"published-print":{"date-parts":[[2025,9]]},"DOI":"10.1007\/s00277-025-06536-2","type":"journal-article","created":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T00:42:55Z","timestamp":1756255375000},"page":"4843-4848","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Rare germline ETV6 variant associated with thrombocytopenia and acute leukemia"],"prefix":"10.1007","volume":"104","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7167-4710","authenticated-orcid":false,"given":"Akhil","family":"Rajendra Kurup","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janet","family":"Malcolmson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3283-2197","authenticated-orcid":false,"given":"Anita","family":"Villani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2147-8674","authenticated-orcid":false,"given":"Raymond H.","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2572-9952","authenticated-orcid":false,"given":"Karen WL","family":"Yee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,8,27]]},"reference":[{"key":"6536_CR1","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 et al (2015) Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. Nat Genet 47:535\u2013538","journal-title":"Nat Genet"},{"key":"6536_CR2","doi-asserted-by":"publisher","first-page":"e1005262","DOI":"10.1371\/journal.pgen.1005262","volume":"11","author":"S Topka","year":"2015","unstructured":"Topka S, Vijai J, Walsh MF et al (2015) Germline ETV6 mutations confer susceptibility to acute lymphoblastic leukemia and thrombocytopenia. PLoS Genet 11:e1005262","journal-title":"PLoS Genet"},{"key":"6536_CR3","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1182\/blood.2020006164","volume":"137","author":"R Nishii","year":"2021","unstructured":"Nishii R, Baskin-Doerfler R, Yang W et al (2021) Molecular basis of ETV6-mediated predisposition to childhood acute lymphoblastic leukemia. Blood 137:364\u2013373","journal-title":"Blood"},{"key":"6536_CR4","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 et al (2015) Germline ETV6 mutations in Familial thrombocytopenia and hematologic malignancy. Nat Genet 47:180\u2013185","journal-title":"Nat Genet"},{"key":"6536_CR5","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 et al (2016) Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia. Haematologica 101:1333\u20131342","journal-title":"Haematologica"},{"key":"6536_CR6","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 (2019) ETV6-related thrombocytopenia and leukemia predisposition. Blood 134:663\u2013667","journal-title":"Blood"},{"key":"6536_CR7","doi-asserted-by":"publisher","first-page":"945","DOI":"10.1016\/j.leukres.2012.04.010","volume":"36","author":"E De Braekeleer","year":"2012","unstructured":"De Braekeleer E, Douet-Guilbert N, Morel F et al (2012) ETV6 fusion genes in hematological malignancies: a review. Leuk Res 36:945\u2013961","journal-title":"Leuk Res"},{"key":"6536_CR8","doi-asserted-by":"publisher","first-page":"e176","DOI":"10.3324\/haematol.2014.104406","volume":"99","author":"Q Wang","year":"2014","unstructured":"Wang Q, Dong S, Yao H et al (2014) ETV6 mutation in a cohort of 970 patients with hematologic malignancies. Haematologica 99:e176\u2013178","journal-title":"Haematologica"},{"issue":"16","key":"6536_CR9","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 et al (2015) Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study. Lancet Oncol 16(16):1659\u20131666","journal-title":"Lancet Oncol"},{"key":"6536_CR10","unstructured":"Genome Aggregation Database (gnomAD) was accessed on March 27 (2025) from https:\/\/registry.opendata.aws\/broad-gnomad"},{"key":"6536_CR11","doi-asserted-by":"publisher","first-page":"908","DOI":"10.3324\/haematol.2020.248872","volume":"106","author":"L Fenwarth","year":"2021","unstructured":"Fenwarth L, Duployez N, Marceau-Renaut A et al (2021) Germline pathogenic variants in transcription factors predisposing to pediatric acute myeloid leukemia: results from the French ELAM02 trial. Haematologica 106:908\u2013912","journal-title":"Haematologica"},{"key":"6536_CR12","unstructured":"PolyPhen-2 prediction of functional effects of human nsSNPs was accessed on June 29 (2025) from http:\/\/genetics.bwh.harvard.edu\/pph2\/"},{"key":"6536_CR13","unstructured":"Sorting Intolerant from Tolerant was accessed on June 29 (2025) from https:\/\/sift.bii.a-star.edu.sg\/www\/SIFT_related_seqs_submit.html"},{"key":"6536_CR14","unstructured":"Ensembl was accessed on June 29 (2025) from https:\/\/useast.ensembl.org\/Homo_sapiens\/Tools\/VEP\/Results?tl=VYmM2Pb8zuqXptNj-11129533"},{"key":"6536_CR15","unstructured":"Mutation Taster was accessed on June 29 (2025) from https:\/\/www.mutationtaster.org\/"},{"key":"6536_CR16","doi-asserted-by":"publisher","first-page":"D980","DOI":"10.1093\/nar\/gkt1113","volume":"42","author":"MJ Landrum","year":"2014","unstructured":"Landrum MJ, Lee JM, Riley GR et al (2014) ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res 42:D980\u2013985","journal-title":"Nucleic Acids Res"},{"key":"6536_CR17","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med 17:405\u2013424","journal-title":"Genet Med"},{"key":"6536_CR18","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 et al (2017) Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34\u2009+\u2009progenitors. Haematologica 102:282\u2013294","journal-title":"Haematologica"},{"key":"6536_CR19","doi-asserted-by":"publisher","first-page":"2249","DOI":"10.3324\/haematol.2022.280729","volume":"107","author":"M Faleschini","year":"2022","unstructured":"Faleschini M, Ammeti D, Papa N et al (2022) ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism. Haematologica 107:2249\u20132254","journal-title":"Haematologica"},{"key":"6536_CR20","doi-asserted-by":"crossref","unstructured":"Ammeti D, De Simone T, Zampieri S et al (2025) Functional testing of ETV6 variants: is the evaluation of their intracellular localization sufficient in assessing pathogenicity? Genes (Basel) 16(2):112","DOI":"10.3390\/genes16020112"},{"key":"6536_CR21","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1080\/09537104.2020.1760229","volume":"32","author":"J Di Paola","year":"2021","unstructured":"Di Paola J, Fisher MH (2021) ETV6-related thrombocytopenia and platelet dysfunction. Platelets 32:141\u2013143","journal-title":"Platelets"},{"key":"6536_CR22","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 (2017) Germline ETV6 mutations and predisposition to hematological malignancies. Int J Hematol 106:189\u2013195","journal-title":"Int J Hematol"},{"key":"6536_CR23","doi-asserted-by":"publisher","DOI":"10.1097\/HS9.0000000000000539","volume":"5","author":"E Galvez","year":"2021","unstructured":"Galvez E, Vallespin E, Arias-Salgado EG et al (2021) Next-generation sequencing in bone marrow failure syndromes and isolated cytopenias: experience of the Spanish network on bone marrow failure syndromes. Hemasphere 5:e539","journal-title":"Hemasphere"},{"key":"6536_CR24","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/s41375-023-02101-w","volume":"38","author":"Y Liu","year":"2024","unstructured":"Liu Y, Karlsson S (2024) Perspectives of current understanding and therapeutics of Diamond-Blackfan anemia. Leukemia 38:1\u20139","journal-title":"Leukemia"},{"key":"6536_CR25","doi-asserted-by":"publisher","first-page":"470","DOI":"10.1186\/s13023-024-03490-6","volume":"19","author":"F Versino","year":"2024","unstructured":"Versino F, Bianchi P, Fermo E et al (2024) Diagnosis of Diamond-Blackfan anemia in adulthood: case series and review of the literature. Orphanet J Rare Dis 19:470","journal-title":"Orphanet J Rare Dis"}],"container-title":["Annals of Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00277-025-06536-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00277-025-06536-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00277-025-06536-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,24]],"date-time":"2025-10-24T05:29:58Z","timestamp":1761283798000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00277-025-06536-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,27]]},"references-count":25,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2025,9]]}},"alternative-id":["6536"],"URL":"https:\/\/doi.org\/10.1007\/s00277-025-06536-2","relation":{},"ISSN":["0939-5555","1432-0584"],"issn-type":[{"value":"0939-5555","type":"print"},{"value":"1432-0584","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8,27]]},"assertion":[{"value":"8 April 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 July 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 August 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Ethical review and approval was not required for this case report in accordance with the University Health Network institutional requirements. Written informed consent to participate in this study was provided by the proband\u2019s siblings.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The proband\u2019s siblings provided consent for publication.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}