{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T11:47:52Z","timestamp":1782215272320,"version":"3.54.5"},"reference-count":34,"publisher":"Termedia Sp. z.o.o.","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pol J Pathol"],"abstract":"<jats:p>Acute leukaemia (AL) is a\u00a0heterogeneous neoplastic disease that occurs by the\u00a0growth of\u00a0abnormal lymphoid and myeloid cells in the\u00a0bone marrow and blood leading to acute myeloid leukaemia (AML) and acute lymphocytic leukaemia (ALL). Conventional cytogenetics is a\u00a0characteristic technique to hunch chromosomal abnormalities, it helps in the\u00a0diagnosis and therapeutic approach of\u00a0the\u00a0disease by the\u00a0molecular cytogenetics technique of\u00a0fluorescence in situ hybridization (FISH). Chromosomal abnormalities in AL are performed by karyotyping to confirm specific chromosomal abnormalities using FISH. &lt;br \/&gt;\nThe\u00a0descriptive study included 42 clinically diagnosed AL patients. Karyotyping analysis was performed using the\u00a0standard Giemsa banding procedure. To confirm specific chromosomal abnormalities and all culture failure (CF) cases, FISH was done. &lt;br \/&gt;\nAmong 42 cases, 29 (69.4%) males and 13 (30.9%) females, AML comprised  22 (52.38%) cases, ALL 14 (33.33%) cases, and AL 6 (14.2%) cases. Normal karyotype was found in 18 (42.85%), abnormal karyotype in 16 (39.09%), and  8 (19.09%) were CF. Specific abnormalities of\u00a0t(15;17), hyperdiploidy; t(3;3) with monosomy 7 in; del(9q22); del(2p); del(17p); del(Xq); 1~2 dmin; der(3); +11, +13 and composite karyotype. Hypodiploidy was strongly associated with AL, which signifies the\u00a0loss of\u00a0chromosomes causing potential risk. &lt;br \/&gt;\nComposite karyotype, rare t(3;3) double minutes, +11,+13, del(9q), and del(Xq) were the\u00a0novel findings reported in the\u00a0South Canara region of\u00a0Karnataka. Despite other molecular techniques, conventional cytogenetics remains the\u00a0baseline in the\u00a0diagnosis of\u00a0malignancies.<\/jats:p>","DOI":"10.5114\/pjp.2023.129425","type":"journal-article","created":{"date-parts":[[2023,7,17]],"date-time":"2023-07-17T08:20:20Z","timestamp":1689582020000},"page":"89-97","source":"Crossref","is-referenced-by-count":1,"title":["Evaluation of the cytogenetic profile in patients with acute leukaemia"],"prefix":"10.5114","volume":"74","author":[{"given":"Nagaraj V","family":"Kulkarni","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vijith V","family":"Shetty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kishan","family":"Prasad HL","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meenakshi","family":"Arumugam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajesh","family":"Krishna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reshma A","family":"Shetty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akanksha A","family":"Kalal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. Prashanth","family":"Shetty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"3061","published-online":{"date-parts":[[2023,7,14]]},"reference":[{"key":"ref-1692005","doi-asserted-by":"crossref","unstructured":"Gomez-Almaguer D, Marcos Ramirez ER, Montano-Figu- eroa EH, et al. Acute leukemia characteristics are different around the\u00a0world: the\u00a0Mexican perspective. Clin Lymphoma Myeloma Leuk 2017; 17: 46-51.","DOI":"10.1016\/j.clml.2016.09.003"},{"key":"ref-1692006","doi-asserted-by":"crossref","unstructured":"Daver N, Schlenk RF, Russell NH, Levis MJ. Targeting FLT3 mutations in AML: a\u00a0review of\u00a0current knowledge and evidence. Leukemia 2019; 33: 299-312.","DOI":"10.1038\/s41375-018-0357-9"},{"key":"ref-1692007","doi-asserted-by":"crossref","unstructured":"Pui CH, Relling MV, Downing JR. Acute lymphoblastic leukemia. N En J Med 2004; 350: 1535-1548.","DOI":"10.1056\/NEJMra023001"},{"key":"ref-1692008","doi-asserted-by":"crossref","unstructured":"Mrozek K, Heerema NA, Bloomfield CD. Cytogenetics in acute leukemia. Blood Rev 2004; 18: 115-136.","DOI":"10.1016\/S0268-960X(03)00040-7"},{"key":"ref-1692009","doi-asserted-by":"crossref","unstructured":"Nachman JB, Heerema NA, Sather H, et al. Outcome of\u00a0treatment in children with hypodiploid acute lymphoblastic leukemia. Blood 2007; 110: 1112-1115.","DOI":"10.1182\/blood-2006-07-038299"},{"key":"ref-1692010","doi-asserted-by":"crossref","unstructured":"Arumugam M, Shetty DP, Kadandale JS, Kumari SN. Y chromosome microdeletion and cytogenetic findings in male infertility: a\u00a0cross-sectional descriptive study. Int J Rep Bio Med 2021; 19: 147.","DOI":"10.18502\/ijrm.v19i2.8473"},{"key":"ref-1692011","unstructured":"Shaffer LG, McGowan-Jordan J, Schmid M. ISCN 2013: an international system for human cytogenetic nomenclature. Switzerland: Karger Medical and Scientific Publishers, Basel 2013."},{"key":"ref-1692012","doi-asserted-by":"crossref","unstructured":"Ahmad F, Dalvi R, Das BR, Mandava S. Specific chromosomal aberrations in de novo acute myeloid leukemia: a\u00a0comparative analysis of\u00a0results with a\u00a0report of\u00a0three novel chromosomal rearrangements t(7;14)(q35;q13), t(8;18)(p11.2;q12), t(13;15) in Indian population. Cancer Detect Prev 2008; 32: 168-177.","DOI":"10.1016\/j.cdp.2008.05.007"},{"key":"ref-1692013","doi-asserted-by":"crossref","unstructured":"Ahmad F, Dalvi R, Chavan D, Das BR, Mandava S. Cytogenetic profile of\u00a0acute lymphocytic leukemia patients: report of\u00a0a\u00a0novel translocation t(4;13)(q21\u00b73;q35) from an Indian population. Hematology 2008; 13: 28-33.","DOI":"10.1179\/102453308X315799"},{"key":"ref-1692014","doi-asserted-by":"crossref","unstructured":"Gadhia P, Parekh N, Chavda P, Vaniawala SN. Cytogenetics findings of\u00a0patients with acute lymphoblastic leukemia in West Indian Region. Int J Adv Res 2014; 6: 563-570.","DOI":"10.21474\/IJAR01\/6473"},{"key":"ref-1692015","doi-asserted-by":"crossref","unstructured":"Mazloumi SH, Kumari P, Madhumathi DS, Appaji L. Rare and recurrent chromosomal abnormalities and their clinical relevance in pediatric acute leukemia of\u00a0south Indian population. Indian J Med Paed Oncol 2012; 33: 166-169.","DOI":"10.4103\/0971-5851.103144"},{"key":"ref-1692016","doi-asserted-by":"crossref","unstructured":"Heng JL, Chen YC, Quah TC, Liu TC, Yeoh AE. Dedicated cytogenetics factor is critical for improving karyotyping results for childhood leukaemias-experience in the\u00a0National University Hospital, Singapore. Ann Acad Med Singapore. 2010; 39:102-106.","DOI":"10.47102\/annals-acadmedsg.V39N2p102"},{"key":"ref-1692017","doi-asserted-by":"crossref","unstructured":"Ito C, Kumagai MA, Manabe A, et. al. Hyperdiploid acute lymphoblastic leukemia with 51 to 65 chromosomes: a\u00a0distinct biological entity with a\u00a0marked propensity to undergo apoptosis. Blood 1999; 93: 315-320.","DOI":"10.1182\/blood.V93.1.315.401k35_315_320"},{"key":"ref-1692018","unstructured":"Safaei A, Shahryari J, Farzaneh MR, Tabibi N, Hosseini M. Cytogenetic findings of\u00a0patients with acute lymphoblastic leukemia in Fars Province. Iran J Med Sci 2013; 38: 301-307."},{"key":"ref-1692019","doi-asserted-by":"crossref","unstructured":"Siddaiahgari S, Awaghad M, Latha M. Clinical, immunophenotype and cytogenetic profile of\u00a0acute lymphoblastic leukemia in children at tertiary health care centre in India. Muller  J Med Sci Res 2015; 6: 112.","DOI":"10.4103\/0975-9727.160676"},{"key":"ref-1692020","doi-asserted-by":"crossref","unstructured":"Amare PK, Jain H, Kabre S, et. al. Cytogenetic profile in 7209 Indian patients with de novo acute leukemia: a\u00a0single centre study from India. J Cancer Ther 2016; 7: 530-544.","DOI":"10.4236\/jct.2016.77056"},{"key":"ref-1692021","doi-asserted-by":"crossref","unstructured":"Mrozek K, Marcucci G, Nicolet D, et. al. Prognostic significance of\u00a0the\u00a0European LeukemiaNet standardized system for reporting cytogenetic and molecular alterations in adults with acute myeloid leukemia. J Clin Oncol 2012; 30: 4515.","DOI":"10.1200\/JCO.2012.43.4738"},{"key":"ref-1692022","doi-asserted-by":"crossref","unstructured":"Paulsson K, Johansson B. High hyperdiploid childhood acute lymphoblastic leukemia. Genes Chromosomes Cancer 2009; 48: 637-660.","DOI":"10.1002\/gcc.20671"},{"key":"ref-1692023","doi-asserted-by":"crossref","unstructured":"Wan TS, So CC, Hui KC, Yip SF, Ma ES, Chan LC. Diagnostic utility of\u00a0dual fusion PML\/RAR\uf061 translocation DNA probe (D-FISH) in acute promyelocytic leukemia. Oncol Rep 2007; 17: 799-805.","DOI":"10.3892\/or.17.4.799"},{"key":"ref-1692024","doi-asserted-by":"crossref","unstructured":"Wang ZY, Chen Z. Acute promyelocytic leukemia: from highly fatal to highly curable. Blood 2008; 111: 2505-2515.","DOI":"10.1182\/blood-2007-07-102798"},{"key":"ref-1692025","doi-asserted-by":"crossref","unstructured":"Sitges M, Boluda B, Garrido A, et al. Acute myeloid leukemia with inv(3)(q21.3q26.2)\/t(3;3)(q21.3;q26.2): study of\u00a061 patients treated with intensive protocols. Eur J Haematol 2020; 105: 138-147.","DOI":"10.1111\/ejh.13417"},{"key":"ref-1692026","doi-asserted-by":"crossref","unstructured":"Poire X, Labopin M, Polge E, et. al. The\u00a0impact of\u00a0concomitant cytogenetic abnormalities on acute myeloid leukemia with monosomy 7 or deletion 7q after HLA-matched allogeneic stem cell transplantation. Am J Hematol 2020; 95: 282-294.","DOI":"10.1002\/ajh.25714"},{"key":"ref-1692027","doi-asserted-by":"crossref","unstructured":"Bhatnagar B, Eisfeld AK, Kohlschmidt J, et al. Clinical and molecular characterization of\u00a0patients with acute myeloid leukemia and sole trisomies of\u00a0chromosomes 4, 8, 11, 13 or 21. Leukemia 2020; 34: 358-368.","DOI":"10.1038\/s41375-019-0560-3"},{"key":"ref-1692028","doi-asserted-by":"crossref","unstructured":"Dohner H, Estey E, Grimwade D, et al. Diagnosis and management of\u00a0AML in adults: 2017 ELN recommendations from an international expert panel. Blood 2017; 129: 424-447.","DOI":"10.1182\/blood-2016-08-733196"},{"key":"ref-1692029","doi-asserted-by":"crossref","unstructured":"Holmfeldt L, Wei L, Diaz-Flores E, et. al. The\u00a0genomic landscape of\u00a0hypodiploid acute lymphoblastic leukemia. Nat Genet 2013; 45: 242-252.","DOI":"10.1038\/ng.2532"},{"key":"ref-1692030","doi-asserted-by":"crossref","unstructured":"Yang JJ, Park TS, Wan TS. 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Am J Biomed Life Sci 2016; 4: 98-102.","DOI":"10.11648\/j.ajbls.20160406.13"}],"container-title":["Polish Journal of Pathology"],"original-title":[],"link":[{"URL":"https:\/\/www.polishjournalofpathology.com\/pdf-168662-136615","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.polishjournalofpathology.com\/pdf-168662-136615","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T10:55:44Z","timestamp":1782212144000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.polishjournalofpathology.com\/Evaluation-of-the-cytogenetic-profile-in-patients-with-acute-leukaemia,168662,0,2.html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,14]]},"references-count":34,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023]]}},"alternative-id":["168662"],"URL":"https:\/\/doi.org\/10.5114\/pjp.2023.129425","relation":{},"ISSN":["1233-9687","2084-9869"],"issn-type":[{"value":"1233-9687","type":"print"},{"value":"2084-9869","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7,14]]}}}