{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T00:07:05Z","timestamp":1784592425797,"version":"3.55.0"},"reference-count":60,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2024,8,24]],"date-time":"2024-08-24T00:00:00Z","timestamp":1724457600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2023YFF0614603"],"award-info":[{"award-number":["2023YFF0614603"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cancer Science"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Genomic structural variants (SVs) play a pivotal role in driving the evolution of hematologic malignancies, particularly in leukemia, in which genetic abnormalities are crucial features. Detecting SVs is essential for achieving precise diagnosis and prognosis in these cases. Karyotyping, often complemented by fluorescence in\u00a0situ hybridization and\/or chromosomal microarray analysis, provides standard diagnostic outcomes for various types of SVs in front\u2010line testing for leukemia. Recently, optical genome mapping (OGM) has emerged as a promising technique due to its ability to detect all SVs identified by other cytogenetic methods within one single assay. Furthermore, OGM has revealed additional clinically significant SVs in various clinical laboratories, underscoring its considerable potential for enhancing front\u2010line testing in cases of leukemia. This review aims to elucidate the principles of conventional cytogenetic techniques and OGM, with a focus on the technical performance of OGM and its applications in diagnosing and prognosticating myelodysplastic syndromes, acute myeloid leukemia, acute lymphoblastic leukemia, and chronic lymphocytic leukemia.<\/jats:p>","DOI":"10.1111\/cas.16325","type":"journal-article","created":{"date-parts":[[2024,8,24]],"date-time":"2024-08-24T10:15:25Z","timestamp":1724494525000},"page":"3543-3551","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Genomic structural variants analysis in leukemia by a novel cytogenetic technique: Optical genome mapping"],"prefix":"10.1111","volume":"115","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-9378-5777","authenticated-orcid":false,"given":"Song","family":"Lu","sequence":"first","affiliation":[{"name":"Center for Advanced Measurement Science National Institute of Metrology  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kefu","family":"Liu","sequence":"additional","affiliation":[{"name":"MOE Key Laboratory of Rare Pediatric Diseases &amp; Hunan Key Laboratory of Medical Genetics, School of Life Sciences Central South University  Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Di","family":"Wang","sequence":"additional","affiliation":[{"name":"Center for Advanced Measurement Science National Institute of Metrology  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan","family":"Ye","sequence":"additional","affiliation":[{"name":"College of Life Science and Technology, Huazhong University of Science and Technology  Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiping","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Hematology, Xiangya Hospital Central South University  Changsha Hunan China"},{"name":"National Clinical Research Center for Geriatric Disorders, Xiangya Hospital Central South University  Changsha Hunan China"},{"name":"Hunan Hematology Oncology Clinical Medical Research Center  Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunhua","family":"Gao","sequence":"additional","affiliation":[{"name":"Center for Advanced Measurement Science National Institute of Metrology  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,8,24]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.3343\/alm.2014.34.6.413"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2017-02-734541"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2021014309"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2022015853"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-03-643544"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-01-643569"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2022016867"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature09708"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genom-120121-101149"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41375-019-0378-z"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0914638107"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1214570110"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/243290a0"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2018-10-844621"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.68.9.2073"},{"issue":"1","key":"e_1_2_11_17_1","first-page":"94","article-title":"Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use","volume":"29","author":"Hook EB","year":"1977","journal-title":"Am J Hum Genet"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0037-1963(00)90021-0"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.beha.2020.101196"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg1692"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.83.9.2934"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2237408"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4939-3302-0_7"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1515\/CCLM.2009.324"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.5858\/arpa.2016-0504-CP"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijlh.13135"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1359641"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-2264(199712)20:4<399::AID-GCC12>3.0.CO;2-I"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/2524"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.10.010"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.2012304"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt869"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1186\/2047-217X-3-34"},{"key":"e_1_2_11_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.2303"},{"key":"e_1_2_11_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.3454"},{"key":"e_1_2_11_36_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4939-8666-8_16"},{"key":"e_1_2_11_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.26587"},{"key":"e_1_2_11_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-08148-z"},{"key":"e_1_2_11_39_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V90.4.1395"},{"key":"e_1_2_11_40_1","doi-asserted-by":"publisher","DOI":"10.3390\/diagnostics13111841"},{"key":"e_1_2_11_41_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12864-022-08499-4"},{"key":"e_1_2_11_42_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-03-492884"},{"key":"e_1_2_11_43_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-03-420489"},{"key":"e_1_2_11_44_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.33942"},{"key":"e_1_2_11_45_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41408-022-00718-1"},{"key":"e_1_2_11_46_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41375-022-01652-8"},{"key":"e_1_2_11_47_1","doi-asserted-by":"publisher","DOI":"10.1101\/563270"},{"key":"e_1_2_11_48_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep10576"},{"key":"e_1_2_11_49_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.06.001"},{"key":"e_1_2_11_50_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2022007583"},{"key":"e_1_2_11_51_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.27435"},{"key":"e_1_2_11_52_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22971"},{"key":"e_1_2_11_53_1","doi-asserted-by":"publisher","DOI":"10.3390\/cancers13174388"},{"key":"e_1_2_11_54_1","doi-asserted-by":"publisher","DOI":"10.3390\/cancers15010035"},{"key":"e_1_2_11_55_1","doi-asserted-by":"publisher","DOI":"10.1097\/HS9.0000000000000925"},{"key":"e_1_2_11_56_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.26487"},{"key":"e_1_2_11_57_1","doi-asserted-by":"publisher","DOI":"10.1093\/annonc\/mdh408"},{"key":"e_1_2_11_58_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2017-09-806398"},{"key":"e_1_2_11_59_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200012283432602"},{"key":"e_1_2_11_60_1","doi-asserted-by":"publisher","DOI":"10.3390\/cancers15041294"},{"key":"e_1_2_11_61_1","doi-asserted-by":"publisher","DOI":"10.3390\/cancers14143376"}],"container-title":["Cancer Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cas.16325","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,4]],"date-time":"2024-11-04T03:14:18Z","timestamp":1730690058000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cas.16325"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,24]]},"references-count":60,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2024,11]]}},"alternative-id":["10.1111\/cas.16325"],"URL":"https:\/\/doi.org\/10.1111\/cas.16325","archive":["Portico"],"relation":{},"ISSN":["1347-9032","1349-7006"],"issn-type":[{"value":"1347-9032","type":"print"},{"value":"1349-7006","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,8,24]]},"assertion":[{"value":"2024-07-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-12","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-24","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}