{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,7]],"date-time":"2026-03-07T11:10:00Z","timestamp":1772881800846,"version":"3.50.1"},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,5,21]],"date-time":"2014-05-21T00:00:00Z","timestamp":1400630400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":468,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"name":"Basic Science Research Program through the National Research Foundation of Korea funded by the Ministry of Education, Science and Technology","award":["NRF-2012R1A1A2044138"],"award-info":[{"award-number":["NRF-2012R1A1A2044138"]}]}],"content-domain":{"domain":["wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Lab Hematology"],"published-print":{"date-parts":[[2015,4]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Myeloproliferative neoplasms (<jats:styled-content style=\"fixed-case\">MPN<\/jats:styled-content>) and myelodysplastic\/myeloproliferative neoplasms (<jats:styled-content style=\"fixed-case\">MDS<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">MPN<\/jats:styled-content>) may transform into secondary myelofibrosis (<jats:styled-content style=\"fixed-case\">MF<\/jats:styled-content>) or evolve into acute myeloid leukemia (<jats:styled-content style=\"fixed-case\">AML<\/jats:styled-content>). The genetic mechanisms underlying disease progression in <jats:styled-content style=\"fixed-case\">MPN<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">MDS<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">MPN<\/jats:styled-content> patients remain unclear. The purpose of this study was to investigate sequential genomic aberrations identified by single nucleotide polymorphism array (<jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>\u2010A)\u2010based karyotyping that can detect cryptic aberrations or copy neutral loss of heterozygosity (<jats:styled-content style=\"fixed-case\">CN<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">LOH<\/jats:styled-content>) in the chronic phase and during disease progression of <jats:styled-content style=\"fixed-case\">MPN<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">MDS<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">MPN<\/jats:styled-content> patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The study group included 13 MPN and four MDS\/MPN patients (seven polycythemia vera (PV); four essential thrombocythemia (ET); two MPN\u2010unclassifiable (MPN\u2010U); one chronic myelomonocytic leukemia (CMML); one atypical chronic myeloid leukemia, BCR\u2010ABL1 negative (<jats:styled-content style=\"fixed-case\">aCML<\/jats:styled-content>); and two MDS\/MPN\u2010unclassifiable (MDS\/MPN\u2010U)). Among them, five patients (two PV, two MPN\u2010U, and one MDS\/MPN\u2010U) progressed to MF and three patients (one CMML, one <jats:styled-content style=\"fixed-case\">aCML<\/jats:styled-content>, and one MDS\/MPN\u2010U) transformed to AML. The median follow\u2010up period was 70\u00a0months (range, 7\u2013152). Whole\u2010genome SNP\u2010A (SNP 6.0; Affymetrix, Santa Clara, CA, USA)\u2010based karyotyping and <jats:italic>JAK2<\/jats:italic> mutation analysis were performed according to the manufacturer's instructions.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p><jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>\u2010A showed 19 kinds of genomic aberrations, including seven gains, eight deletions, and four <jats:styled-content style=\"fixed-case\">CN<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">LOH<\/jats:styled-content>. <jats:styled-content style=\"fixed-case\">CN<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">LOH<\/jats:styled-content> of 9p involving <jats:italic><jats:styled-content style=\"fixed-case\">JAK<\/jats:styled-content>2<\/jats:italic> was the most common aberration, followed by 5q deletion and 9p gain. The incidence of genomic changes identified by <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content> was not different in patients with disease progression (75%), compared with those without disease progression (56%) (<jats:italic>P<\/jats:italic>\u00a0=\u00a00.4). However, when excluding 9p <jats:styled-content style=\"fixed-case\">CN<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">LOH<\/jats:styled-content>, the incidence of genomic changes was significantly higher in patients with disease progression than in patients without disease progression (63% and 0%, respectively, <jats:italic>P<\/jats:italic>\u00a0=\u00a00.01). Among eight patients with disease progression, two patients (two MPN\u2010U) showed abnormal SNP\u2010A results, whereas metaphase cytogenetics (MC) analysis showed normal results at diagnosis and during follow\u2010up. In nine patients without disease progression, SNP\u2010A did not show any genomic aberrations except for 9p CN\u2010LOH. In three patients (one PV, one <jats:styled-content style=\"fixed-case\">aCML<\/jats:styled-content>, and one MDS\/MPN\u2010U), clonal evolutions were identified by both MC and SNP\u2010A according to disease progression. One PV patient who progressed to MF at 45\u00a0months after diagnosis showed sequential genomic changes from 9p CN\u2010LOH to 9p gain by SNP\u2010A. Results of <jats:italic>JAK2<\/jats:italic> mutation analysis were variable depending on the patient. Most of the patients with 9p CN\u2010LOH or 9p gain showed more than 50% of the <jats:italic>JAK2<\/jats:italic> mutant alleles. In one patient (MDS\/MPN\u2010U) evolving to AML, the number of <jats:italic>JAK2<\/jats:italic> mutant alleles decreased according to disease progression.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study suggests sequential genomic changes identified by <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>\u2010A may be associated with disease progression.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ijlh.12257","type":"journal-article","created":{"date-parts":[[2014,5,21]],"date-time":"2014-05-21T09:44:25Z","timestamp":1400665465000},"page":"181-189","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Genomic aberrations of myeloproliferative and myelodysplastic\/myeloproliferative neoplasms in chronic phase and during disease progression"],"prefix":"10.1111","volume":"37","author":[{"given":"C.","family":"Hahm","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine Ewha Womans University School of Medicine Seoul South Korea"},{"name":"Department of Laboratory Medicine Eone Laboratories Incheon South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. J.","family":"Huh","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Dongguk University Ilsan Hospital Goyang South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y. C.","family":"Mun","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Ewha Womans University School of Medicine Seoul South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. M.","family":"Seong","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Ewha Womans University School of Medicine Seoul South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. S.","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Ewha Womans University School of Medicine Seoul South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Huh","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Ewha Womans University School of Medicine Seoul South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,5,21]]},"reference":[{"key":"e_1_2_6_2_1","volume-title":"WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues","author":"Swerdlow SH","year":"2008"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2013.163"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-004-0977-1"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1309\/AJCPS6C8EVYCQNRM"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0609.2009.01224.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0609.2009.01246.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.canlet.2007.02.009"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0609.2007.01003.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-01-331678"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2009.07757.x"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-05-2017"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-10-2900"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2009.013623"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.22166"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-07-235119"},{"key":"e_1_2_6_17_1","volume-title":"An international System for Human Cytogenetic Nomenclature","author":"Shaffer LG","year":"2013"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1309\/AJCP74TSVUHHAJFX"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-07-099184"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2010.148"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.leu.2405097"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-12-013748"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-12-062125"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-08-236596"}],"container-title":["International Journal of Laboratory Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fijlh.12257","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ijlh.12257","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T20:04:55Z","timestamp":1695499495000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ijlh.12257"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,5,21]]},"references-count":23,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2015,4]]}},"alternative-id":["10.1111\/ijlh.12257"],"URL":"https:\/\/doi.org\/10.1111\/ijlh.12257","archive":["Portico"],"relation":{},"ISSN":["1751-5521","1751-553X"],"issn-type":[{"value":"1751-5521","type":"print"},{"value":"1751-553X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,5,21]]},"assertion":[{"value":"2014-06-25","name":"published_online","label":"Published Online","group":{"name":"publication_history","label":"Publication History"}}]}}