{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T13:25:42Z","timestamp":1767705942081,"version":"3.37.3"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2017,12,20]],"date-time":"2017-12-20T00:00:00Z","timestamp":1513728000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Int J Hematol"],"published-print":{"date-parts":[[2018,8]]},"DOI":"10.1007\/s12185-017-2387-x","type":"journal-article","created":{"date-parts":[[2017,12,20]],"date-time":"2017-12-20T11:10:47Z","timestamp":1513768247000},"page":"208-212","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Rearrangement of VPS13B, a causative gene of Cohen syndrome, in a case of RUNX1\u2013RUNX1T1 leukemia with t(8;12;21)"],"prefix":"10.1007","volume":"108","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1773-5698","authenticated-orcid":false,"given":"Akihiro","family":"Abe","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yukiya","family":"Yamamoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akira","family":"Katsumi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akinao","family":"Okamoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masutaka","family":"Tokuda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoko","family":"Inaguma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiyoko","family":"Yamamoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masamitsu","family":"Yanada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tadaharu","family":"Kanie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akihiro","family":"Tomita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshiki","family":"Akatsuka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masataka","family":"Okamoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiki","family":"Kameyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akila","family":"Mayeda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nobuhiko","family":"Emi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2017,12,20]]},"reference":[{"key":"2387_CR1","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/0165-4608(90)90043-A","volume":"44","author":"GF de Cytogenetique Hematologique","year":"1990","unstructured":"de Cytogenetique Hematologique GF. Acute myelogenous leukemia with an 8;21 translocation. A report on 148 cases from the Groupe Francais de Cytogenetique Hematologique. Cancer Genet Cytogenet. 1990;44:169\u201379.","journal-title":"Cancer Genet Cytogenet"},{"key":"2387_CR2","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1182\/blood-2009-11-254441","volume":"116","author":"D Grimwade","year":"2010","unstructured":"Grimwade D, Hills RK, Moorman AV, Walker H, Chatters S, Goldstone AH, et al. Refinement of cytogenetic classification in acute myeloid leukemia: determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in the United Kingdom Medical Research Council trials. Blood. 2010;116:354\u201365.","journal-title":"Blood"},{"key":"2387_CR3","doi-asserted-by":"crossref","first-page":"2322","DOI":"10.1182\/blood.V92.7.2322","volume":"92","author":"D Grimwade","year":"1998","unstructured":"Grimwade D, Walker H, Oliver F, Wheatley K, Harrison C, Harrison G, et al. The importance of diagnostic cytogenetics on outcome in AML: analysis of 1,612 patients entered into the MRC AML 10 trial. The Medical Research Council Adult and Children\u2019s Leukaemia Working Parties. Blood. 1998;92:2322\u201333.","journal-title":"Blood"},{"key":"2387_CR4","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1182\/blood.V53.4.695.695","volume":"53","author":"JM Trujillo","year":"1979","unstructured":"Trujillo JM, Cork A, Ahearn MJ, Youness EL, McCredie KB. Hematologic and cytologic characterization of 8\/21 translocation acute granulocytic leukemia. Blood. 1979;53:695\u2013706.","journal-title":"Blood"},{"key":"2387_CR5","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1309\/8VJ4V9PG3TRJTLVH","volume":"125","author":"L Huang","year":"2006","unstructured":"Huang L, Abruzzo LV, Valbuena JR, Medeiros LJ, Lin P. Acute myeloid leukemia associated with variant t(8;21) detected by conventional cytogenetic and molecular studies: a report of four cases and review of the literature. Am J Clin Pathol. 2006;125:267\u201372.","journal-title":"Am J Clin Pathol"},{"key":"2387_CR6","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/nature07638","volume":"458","author":"CA Maher","year":"2009","unstructured":"Maher CA, Kumar-Sinha C, Cao X, Kalyana-Sundaram S, Han B, Jing X, et al. Transcriptome sequencing to detect gene fusions in cancer. Nature. 2009;458:97\u2013101.","journal-title":"Nature"},{"key":"2387_CR7","doi-asserted-by":"crossref","first-page":"1906","DOI":"10.1182\/blood-2008-10-182782","volume":"113","author":"OK Weinberg","year":"2009","unstructured":"Weinberg OK, Seetharam M, Ren L, Seo K, Ma L, Merker JD, et al. Clinical characterization of acute myeloid leukemia with myelodysplasia-related changes as defined by the 2008 WHO classification system. Blood. 2009;113:1906\u20138.","journal-title":"Blood"},{"key":"2387_CR8","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1007\/s12185-017-2303-4","volume":"106","author":"S Miyawaki","year":"2017","unstructured":"Miyawaki S. JSH guideline for tumors of hematopoietic and lymphoid tissues: leukemia 1. Acute myeloid leukemia (AML). Int J Hematol. 2017;106:310\u201325.","journal-title":"Int J Hematol"},{"key":"2387_CR9","doi-asserted-by":"crossref","first-page":"R72","DOI":"10.1186\/gb-2011-12-8-r72","volume":"12","author":"D Kim","year":"2011","unstructured":"Kim D, Salzberg SL. TopHat-Fusion: an algorithm for discovery of novel fusion transcripts. Genome Biol. 2011;12:R72.","journal-title":"Genome Biol"},{"key":"2387_CR10","doi-asserted-by":"crossref","first-page":"e1001138","DOI":"10.1371\/journal.pcbi.1001138","volume":"7","author":"A McPherson","year":"2011","unstructured":"McPherson A, Hormozdiari F, Zayed A, Giuliany R, Ha G, Sun MG, et al. deFuse: an algorithm for gene fusion discovery in tumor RNA-Seq data. PLoS Comput Biol. 2011;7:e1001138.","journal-title":"PLoS Comput Biol"},{"key":"2387_CR11","doi-asserted-by":"crossref","first-page":"1270","DOI":"10.1182\/blood.V82.4.1270.1270","volume":"82","author":"T Kozu","year":"1993","unstructured":"Kozu T, Miyoshi H, Shimizu K, Maseki N, Kaneko Y, Asou H, et al. Junctions of the AML1\/MTG8(ETO) fusion are constant in t(8;21) acute myeloid leukemia detected by reverse transcription polymerase chain reaction. Blood. 1993;82:1270\u20136.","journal-title":"Blood"},{"key":"2387_CR12","unstructured":"Mitelman F, Johansson B, Mertens F. Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer. http:\/\/cgap.nci.nih.gov\/Chromosomes\/Mitelman . Accessed 16 June 2017."},{"key":"2387_CR13","doi-asserted-by":"crossref","first-page":"67","DOI":"10.3109\/10428190009054882","volume":"40","author":"K Rege","year":"2000","unstructured":"Rege K, Swansbury GJ, Atra AA, Horton C, Min T, Dainton MG, et al. Disease features in acute myeloid leukemia with t(8;21)(q22;q22). Influence of age, secondary karyotype abnormalities, CD19 status, and extramedullary leukemia on survival. Leuk Lymphoma. 2000;40:67\u201377.","journal-title":"Leuk Lymphoma"},{"key":"2387_CR14","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1038\/cdd.2016.108","volume":"24","author":"R Isaac","year":"2017","unstructured":"Isaac R, Goldstein I, Furth N, Zilber N, Streim S, Boura-Halfon S, et al. TM7SF3, a novel p53-regulated homeostatic factor, attenuates cellular stress and the subsequent induction of the unfolded protein response. Cell Death Differ. 2017;24:132\u201343.","journal-title":"Cell Death Differ"},{"key":"2387_CR15","doi-asserted-by":"crossref","first-page":"E845","DOI":"10.1002\/humu.21065","volume":"30","author":"I Balikova","year":"2009","unstructured":"Balikova I, Lehesjoki AE, de Ravel TJ, Thienpont B, Chandler KE, Clayton-Smith J, et al. Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome. Hum Mutat. 2009;30:E845\u201354.","journal-title":"Hum Mutat"},{"key":"2387_CR16","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1046\/j.1365-2141.1997.2323049.x","volume":"98","author":"S Kivitie-Kallio","year":"1997","unstructured":"Kivitie-Kallio S, Rajantie J, Juvonen E, Norio R. Granulocytopenia in Cohen syndrome. Br J Haematol. 1997;98:308\u201311.","journal-title":"Br J Haematol"},{"key":"2387_CR17","doi-asserted-by":"crossref","first-page":"e22","DOI":"10.1136\/jmg.2005.039867","volume":"43","author":"W Seifert","year":"2006","unstructured":"Seifert W, Holder-Espinasse M, Spranger S, Hoeltzenbein M, Rossier E, Dollfus H, et al. Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. J Med Genet. 2006;43:e22.","journal-title":"J Med Genet"},{"key":"2387_CR18","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1002\/ajmg.a.36300","volume":"164A","author":"L Gueneau","year":"2014","unstructured":"Gueneau L, Duplomb L, Sarda P, Hamel C, Aral B, Chehadeh SE, et al. Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations. Am J Med Genet A. 2014;164A:522\u20137.","journal-title":"Am J Med Genet A"},{"key":"2387_CR19","doi-asserted-by":"crossref","first-page":"5705","DOI":"10.1200\/JCO.2005.15.610","volume":"23","author":"G Marcucci","year":"2005","unstructured":"Marcucci G, Mrozek K, Ruppert AS, Maharry K, Kolitz JE, Moore JO, et al. Prognostic factors and outcome of core binding factor acute myeloid leukemia patients with t(8;21) differ from those of patients with inv(16): a Cancer and Leukemia Group B study. J Clin Oncol. 2005;23:5705\u201317.","journal-title":"J Clin Oncol"},{"key":"2387_CR20","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1111\/j.1365-2141.2005.05445.x","volume":"129","author":"A Peniket","year":"2005","unstructured":"Peniket A, Wainscoat J, Side L, Daly S, Kusec R, Buck G, et al. Del (9q) AML: clinical and cytological characteristics and prognostic implications. Br J Haematol. 2005;129:210\u201320.","journal-title":"Br J Haematol"},{"key":"2387_CR21","first-page":"1288","volume":"10","author":"C Schoch","year":"1996","unstructured":"Schoch C, Haase D, Haferlach T, Gudat H, Buchner T, Freund M, et al. Fifty-one patients with acute myeloid leukemia and translocation t(8;21)(q22;q22): an additional deletion in 9q is an adverse prognostic factor. Leukemia. 1996;10:1288\u201395.","journal-title":"Leukemia"}],"container-title":["International Journal of Hematology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12185-017-2387-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12185-017-2387-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12185-017-2387-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,10,24]],"date-time":"2020-10-24T15:38:55Z","timestamp":1603553935000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12185-017-2387-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,12,20]]},"references-count":21,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,8]]}},"alternative-id":["2387"],"URL":"https:\/\/doi.org\/10.1007\/s12185-017-2387-x","relation":{},"ISSN":["0925-5710","1865-3774"],"issn-type":[{"type":"print","value":"0925-5710"},{"type":"electronic","value":"1865-3774"}],"subject":[],"published":{"date-parts":[[2017,12,20]]}}}