{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:16:41Z","timestamp":1747185401626,"version":"3.40.5"},"reference-count":40,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,5,21]],"date-time":"2019-05-21T00:00:00Z","timestamp":1558396800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"CFO Fund","award":["1191100\/CFO"],"award-info":[{"award-number":["1191100\/CFO"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Lab Hematology"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Conventional cytogenetics (CC) is important in diagnosis, therapy, monitoring of post\u2010transplant bone marrow, and prognosis assessment of acute lymphoblastic leukemia (ALL). However, due to the nature of ALL, CC often encounters difficulties of complex karyotype, poor chromosome morphology, low mitotic index, or normal cells dividing only. In contrast, chromosomal microarray analysis (CMA) showed a specificity &gt;99% and a sensitivity of 100% in chronic lymphocytic leukemia (CLL) patients. Here, we report our experience with CMA on adult ALL patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Thirty\u2010three bone marrow\/blood samples from ALL patients (aged 18\u201079\u00a0years, median 44) at diagnosis\/relapse, analyzed by CC and\/or fluorescence in situ hybridization (FISH), were recruited. Chromosomal microarray analysis results were compared with CC. Fluorescence in situ hybridization analysis, if available, was applied when there was a discrepancy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Copy\u2010neutral loss\u2010of\u2010heterozygosity (CN\u2010LOH) was found in 8 cases (24.2%). Only CN\u2010LOH at 9p was recurrent (3 cases, 9.1%). Copy number alterations (CNAs) were detected in 6 of 9 cases (66.7%) with normal karyotypes, in 3 of 5 cases (60.0%) with sole \u201cbalanced\u201d translocations, and in 18 of 19 cases (94.7%) with complex karyotypes. Common CNAs involved <jats:italic>CDKN2A\/2B<\/jats:italic> (30.3%), <jats:italic>IKZF1<\/jats:italic> (27.3%), <jats:italic>PAX5<\/jats:italic> (9.1%), <jats:italic>RB1<\/jats:italic> (9.1%), <jats:italic>BTG1<\/jats:italic> (6.7%), and <jats:italic>ETV6<\/jats:italic> (6.7%), which regulate cell cycle, B lymphopoiesis, or act as tumor suppressors in ALL. Copy number alteration detection rate by CMA was 81.8% (27 of 33 cases) as compared to 57.6% (19 of 33 cases) by CC.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Incorporation of CMA as a routine clinical test at the time of diagnosis\/relapse, in conjunction with CC and\/or FISH, is highly recommended.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ijlh.13052","type":"journal-article","created":{"date-parts":[[2019,5,21]],"date-time":"2019-05-21T22:18:58Z","timestamp":1558477138000},"page":"561-571","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Chromosomal microarray analysis is superior in identifying cryptic aberrations in patients with acute lymphoblastic leukemia at diagnosis\/relapse as a single assay"],"prefix":"10.1111","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8570-8467","authenticated-orcid":false,"given":"Chuanfei","family":"Chen","sequence":"first","affiliation":[{"name":"Cytogenetics Laboratory, Department of Molecular Pathology, Division of Pathology Singapore General Hospital Singapore Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evelyn Yee Hsieh","family":"Heng","sequence":"additional","affiliation":[{"name":"Cytogenetics Laboratory, Department of Molecular Pathology, Division of Pathology Singapore General Hospital Singapore Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alvin Soon Tiong","family":"Lim","sequence":"additional","affiliation":[{"name":"Cytogenetics Laboratory, Department of Molecular Pathology, Division of Pathology Singapore General Hospital Singapore Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lai Ching","family":"Lau","sequence":"additional","affiliation":[{"name":"Cytogenetics Laboratory, Department of Molecular Pathology, Division of Pathology Singapore General Hospital Singapore Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tse Hui","family":"Lim","sequence":"additional","affiliation":[{"name":"Cytogenetics Laboratory, Department of Molecular Pathology, Division of Pathology Singapore General Hospital Singapore Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gee Chuan","family":"Wong","sequence":"additional","affiliation":[{"name":"Department of Haematology Singapore General Hospital Singapore Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sim Leng","family":"Tien","sequence":"additional","affiliation":[{"name":"Cytogenetics Laboratory, Department of Molecular Pathology, Division of Pathology Singapore General Hospital Singapore Singapore"},{"name":"Department of Haematology Singapore General Hospital Singapore Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,5,21]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0304717101"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.21145"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.2353\/jmoldx.2008.080033"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.leu.2404247"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/9781119061199.ch11"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-006-0251-9"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.leu.2403988"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-05-2017"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-05-092304"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-008-0513-9"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2009.04.003"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-10-201848"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0808253"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2011.056135"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/bmt.2014.281"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-07-166801"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.leukres.2008.01.014"},{"key":"e_1_2_6_19_1","first-page":"881","article-title":"The prognostic significance of CDKN2A, CDKN2B and MTAP inactivation in B\u2010lineage acute lymphoblastic leukemia of childhood. 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