{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T06:45:39Z","timestamp":1774680339387,"version":"3.50.1"},"reference-count":35,"publisher":"FapUNIFESP (SciELO)","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"am","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Braz. J. Biol."],"abstract":"<jats:p>Abstract Hematological and hematopoietic cells malignancies of the genes and hematopoietic cells are associated with the genetic mutation, often at the chromosomal level. The standard cytogenetic study is widely accepted as one of the main diagnostics and prognostic determinants in patients. Therefore, the current descriptive and cross-sectional study sought to determine the cytogenetic analysis of frequent hematological malignancies in Pakistan. A total of 202 peripheral bone marrow or blood samples from patients with benign and malignant hematological malignancy were taken using a conventional G-banding technique. Among enrolled patients, the mean age was 21.5 years \u00b1 23.4, and gender-wise distribution showed a marked predominance of the male 147 (73%) population compared to the female 55 (27%). Patients in the age group (2-10 years) had the highest frequency, 48 (24%), of hematological neoplasms, followed by age (11-20 years) with 40 (20%). Normal karyotypes (46, XX\/46, XY) was found in 51% (n=103) patients. Furthermore, the frequency of complex karyotype was 30 (15%), while normal was seen in 171 (85%) patients. Pre-B Acute Lymphoblastic Leukemia (Pre-B ALL) was the most prevalent malignancy of 66 (33%), followed by Chronic Myelogenous Leukemia (CML) of 41 (20%) and Acute Lymphocytic Leukemia of 29 (14%). Translocation was the most prevalent 50 (25%), followed by hypotriploidy 14 (7%) and monosomy 8 (4%) on chromosome aberration analysis. In addition, t(9:22) translocation was found to be 20 (10%) in CML, with the majority in the age group (31-40 years). This study recommends that karyotyping should be tested frequently in hematological conditions because it may provide insight into the relative chromosomal changes associated with particular malignancies.<\/jats:p>","DOI":"10.1590\/1519-6984.249911","type":"journal-article","created":{"date-parts":[[2021,10,11]],"date-time":"2021-10-11T19:57:33Z","timestamp":1633982253000},"source":"Crossref","is-referenced-by-count":3,"title":["Cytogenetic abnormalities in patients with hematological malignancies in Lahore city, Pakistan"],"prefix":"10.1590","volume":"83","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1183-2788","authenticated-orcid":false,"given":"U. A.","family":"Awan","sequence":"first","affiliation":[{"name":"University of Management and Technology,  Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Farooq","sequence":"additional","affiliation":[{"name":"Lahore Medical and Dental College,  Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Sarwar","sequence":"additional","affiliation":[{"name":"Gujranwala Medical College,  Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. M. S.","family":"Jehangir","sequence":"additional","affiliation":[{"name":"Mayo Hospital Lahore,  Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. S.","family":"Hashmi","sequence":"additional","affiliation":[{"name":"Bahria International Hospital,  Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Alamgir","sequence":"additional","affiliation":[{"name":"Punjab Institute of Cardiology,  Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Waheed","sequence":"additional","affiliation":[{"name":"Punjab University,  Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5804-5613","authenticated-orcid":false,"given":"M.","family":"Khurram","sequence":"additional","affiliation":[{"name":"University of Management and Technology,  Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0382-3569","authenticated-orcid":false,"given":"H.","family":"Ahmed","sequence":"additional","affiliation":[{"name":"COMSATS University,  Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9400-2984","authenticated-orcid":false,"given":"A. A.","family":"Khattak","sequence":"additional","affiliation":[{"name":"The University of Haripur,  Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9807-5710","authenticated-orcid":false,"given":"M. S.","family":"Afzal","sequence":"additional","affiliation":[{"name":"University of Management and Technology,  Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","published-online":{"date-parts":[[2023]]},"reference":[{"key":"ref1","first-page":"161","article-title":"A chronic myeloid leukemia case with a variant translocation t (11; 22)(q23; q11. 2): masked Philadelphia or simple variant translocation?","volume":"30","author":"ACAR K.","year":"2018","journal-title":"The Pan African Medical Journal"},{"issue":"6","key":"ref2","doi-asserted-by":"crossref","DOI":"10.1136\/bmjopen-2016-011828","article-title":"Epidemiology of cancers in Lahore, Pakistan, 2010\u20132012: a cross-sectional study","volume":"6","author":"BADAR F.","year":"2016","journal-title":"BMJ Open"},{"issue":"4","key":"ref3","doi-asserted-by":"crossref","first-page":"313","DOI":"10.2174\/1389202023350363","article-title":"Chromosomal translocations in hematologic malignancies","volume":"3","author":"BRUNSTEIN C.G.","year":"2002","journal-title":"Current Genomics"},{"issue":"1","key":"ref4","first-page":"115","article-title":"Clinical and prognostic significance of trisomy 21 in adult patients with acute myelogenous leukemia and myelodysplastic syndromes","volume":"9","author":"CORTES J.E.","year":"1995","journal-title":"Leukemia"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"432","DOI":"10.3389\/fonc.2019.00432","article-title":"Intersection of epigenetic and metabolic regulation of histone modifications in acute myeloid leukemia","volume":"9","author":"DHALL A.","year":"2019","journal-title":"Frontiers in Oncology"},{"issue":"3","key":"ref6","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1182\/blood-2009-07-235358","article-title":"Diagnosis and management of acute myeloid leukemia in adults: recommendations from an international expert panel, on behalf of the European LeukemiaNet","volume":"115","author":"D\u00d6HNER H.","year":"2010","journal-title":"Blood"},{"issue":"5","key":"ref7","doi-asserted-by":"crossref","first-page":"1312","DOI":"10.1182\/blood.V98.5.1312","article-title":"The predictive value of hierarchical cytogenetic classification in older adults with acute myeloid leukemia (AML): analysis of 1065 patients entered into the United Kingdom Medical Research Council AML11 trial","volume":"98","author":"GRIMWADE D.","year":"2001","journal-title":"Blood"},{"issue":"1","key":"ref8","first-page":"9","article-title":"Significance of cytogenetic abnormalities in acute myeloid leukaemia","volume":"56","author":"HARANI M.S.","year":"2006","journal-title":"The Journal of the Pakistan Medical Association"},{"key":"ref9","series-title":"Cytogenetics in hematology. Molecular Aspects of Hematologic Malignancies.","author":"HAUS O.","year":"2012"},{"issue":"2","key":"ref10","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1159\/000046636","article-title":"Cytogenetic and molecular genetic evolution of chronic myeloid leukemia","volume":"107","author":"JOHANSSON B.","year":"2002","journal-title":"Acta Haematologica"},{"issue":"2","key":"ref11","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1177\/1947601911408076","article-title":"Genetic abnormalities and challenges in the treatment of acute myeloid leukemia","volume":"2","author":"KUMAR C.C.","year":"2011","journal-title":"Genes & Cancer"},{"issue":"1","key":"ref12","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1038\/sj.leu.2404974","article-title":"Hyperdiploid karyotypes in acute myeloid leukemia define a novel entity: a study of 38 patients from the Groupe Francophone de Cytogenetique Hematologique (GFCH)","volume":"22","author":"LUQUET I.","year":"2008","journal-title":"Leukemia"},{"issue":"1","key":"ref13","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1186\/s13256-020-02539-x","article-title":"Complex cytogenetic abnormalities in chronic myeloid leukemia resulting in early progression to blast crisis: a case report","volume":"14","author":"MALAKZAI H.A.","year":"2020","journal-title":"Journal of Medical Case Reports"},{"key":"ref14","series-title":"Mitelman database of chromosome aberrations and gene fusions in cancer","author":"MITELMAN F.","year":"2018"},{"issue":"24","key":"ref15","doi-asserted-by":"crossref","first-page":"3958","DOI":"10.1002\/cncr.28950","article-title":"Prognostic significance of complex karyotype and monosomal karyotype in adult patients with acute lymphoblastic leukemia treated with risk\u2010adapted protocols","volume":"120","author":"MOTLL\u00d3 C.","year":"2014","journal-title":"Cancer"},{"issue":"4","key":"ref16","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1053\/j.seminoncol.2008.04.007","article-title":"Cytogenetic, molecular genetic, and clinical characteristics of acute myeloid leukemia with a complex karyotype","volume":"35","author":"MR\u00d3ZEK K.","year":"2008","journal-title":"Seminars in Oncology"},{"issue":"36","key":"ref17","doi-asserted-by":"crossref","first-page":"4515","DOI":"10.1200\/JCO.2012.43.4738","article-title":"Prognostic significance of the European LeukemiaNet standardized system for reporting cytogenetic and molecular alterations in adults with acute myeloid leukemia","volume":"30","author":"MR\u00d3ZEK K.","year":"2012","journal-title":"Journal of Clinical Oncology"},{"issue":"1","key":"ref18","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1007\/s12288-015-0584-4","article-title":"Current role of genetics in hematologic malignancies","volume":"32","author":"PRAKASH G.","year":"2016","journal-title":"Indian Journal of Hematology & Blood Transfusion: an Official Journal of Indian Society of Hematology and Blood Transfusion"},{"issue":"8","key":"ref19","doi-asserted-by":"crossref","first-page":"1851","DOI":"10.1038\/s41375-019-0378-z","article-title":"European recommendations and quality assurance for cytogenomic analysis of haematological neoplasms","volume":"33","author":"RACK K.","year":"2019","journal-title":"Leukemia"},{"key":"ref20","series-title":"Laboratory hematology practice.","volume-title":"The role of classical cytogenetics in hematologic diagnosis.","author":"RICHKIND K.","year":"2012"},{"issue":"20","key":"ref21","doi-asserted-by":"crossref","first-page":"2758","DOI":"10.1200\/JCO.2010.32.8500","article-title":"Long-term prognosis of acute myeloid leukemia according to the new genetic risk classification of the European LeukemiaNet recommendations: evaluation of the proposed reporting system","volume":"29","author":"R\u00d6LLIG C.","year":"2011","journal-title":"Journal of clinical oncology"},{"issue":"1","key":"ref22","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1590\/1519-6984.13212","article-title":"Cytogenetics analyses among populations of the fish Iheringichtys labrosus (Kr\u00f6yer, 1874. (Siluriformes, Pimelodidae). Karyotype analysis, C-banding and AgRONs distribution","volume":"74","author":"S\u00c1NCHEZ S.","year":"2014","journal-title":"Brazilian Journal of Biology = Revista Brasileira de Biologia"},{"issue":"7731","key":"ref23","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/S0140-6736(71)90287-X","article-title":"A rapid banding technique for human chromosomes","volume":"298","author":"SEABRIGHT M.","year":"1971","journal-title":"Lancet"},{"key":"ref24","series-title":"ISCN 2013: an international system for human cytogenetic nomenclature.","author":"SHAFFER L.G.","year":"2013"},{"issue":"7","key":"ref25","first-page":"1903","article-title":"Distribution of chromosomal abnormalities commonly observed in adult acute myeloid leukemia in Pakistan as predictors of prognosis","volume":"19","author":"SHAIKH M.S.","year":"2018","journal-title":"Asian Pacific Journal of Cancer Prevention"},{"issue":"4","key":"ref26","first-page":"212","article-title":"Cancer statistics, 2011: the impact of eliminating socioeconomic and racial disparities on premature cancer deaths","volume":"61","author":"SIEGEL R.","year":"2011","journal-title":"CA: a cancer journal for clinicians"},{"issue":"1","key":"ref27","doi-asserted-by":"crossref","first-page":"e386","DOI":"10.1038\/bcj.2015.114","article-title":"Karyotype complexity and prognosis in acute myeloid leukemia","volume":"6","author":"ST\u00d6LZEL F.","year":"2016","journal-title":"Blood Cancer Journal"},{"issue":"2","key":"ref28","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/j.hgmx.2016.11.006","article-title":"Chromosomal abnormalities in patients with haematologic malignancies in the General Hospital of Mexico","volume":"80","author":"TREJO R.A.","year":"2017","journal-title":"Revista Medica del Hospital General"},{"key":"ref29","doi-asserted-by":"crossref","DOI":"10.1155\/2018\/2019239","article-title":"Complex karyotype in hematological diseases: a 6-year single centre study from Pakistan","volume":"2018","author":"WAHEED S.","year":"2018","journal-title":"Journal of Oncology"},{"issue":"3","key":"ref30","first-page":"28","article-title":"Some specific chromosomal aberrations of hematologic malignancies in 80 iranian population","volume":"3","author":"YAGHMAEI M.","year":"2009","journal-title":"International Journal of Hematology-Oncology and Stem Cell Research"},{"issue":"11","key":"ref31","doi-asserted-by":"crossref","first-page":"5421","DOI":"10.7314\/APJCP.2012.13.11.5421","article-title":"Monosomal karyotypes among 1147 Chinese patients with acute myeloid leukemia: prevalence, features and prognostic impact","volume":"13","author":"YANG X.-F.","year":"2012","journal-title":"Asian Pacific Journal of Cancer Prevention"},{"issue":"1A","key":"ref32","first-page":"A1","article-title":"Cancer stem cells in haematological malignancies","volume":"19","author":"ZAGOZDZON R.","year":"2015","journal-title":"Contemporary Oncology"},{"issue":"1","key":"ref33","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1590\/1519-6984.23512","article-title":"Description of karyotype of Kerodon acrobata, an endemic rodent in Brazilian Cerrado","volume":"74","author":"ZAPPES I.A.","year":"2014","journal-title":"Brazilian Journal of Biology = Revista Brasileira de Biologia"},{"issue":"12","key":"ref34","first-page":"5251","article-title":"Outcomes of 1st remission induction chemotherapy in acute myeloid leukemia cytogenetic risk groups","volume":"17","author":"ZEHRA S.","year":"2016","journal-title":"Asian Pacific Journal of Cancer Prevention"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/j.anndiagpath.2016.02.002","article-title":"Advances in B-lymphoblastic leukemia: cytogenetic and genomic lesions","volume":"23","author":"ZHOU Y.","year":"2016","journal-title":"Annals of Diagnostic Pathology"}],"container-title":["Brazilian Journal of Biology"],"original-title":[],"link":[{"URL":"http:\/\/www.scielo.br\/pdf\/bjb\/v83\/1519-6984-bjb-83-e249911.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,10,11]],"date-time":"2021-10-11T19:58:12Z","timestamp":1633982292000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S1519-69842023000100271&tlng=en"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023]]},"references-count":35,"alternative-id":["S1519-69842023000100271"],"URL":"https:\/\/doi.org\/10.1590\/1519-6984.249911","relation":{},"ISSN":["1678-4375","1519-6984"],"issn-type":[{"value":"1678-4375","type":"electronic"},{"value":"1519-6984","type":"print"}],"subject":[],"published":{"date-parts":[[2023]]},"article-number":"e249911"}}