title: Frequency of chromosomal abnormalities in Pakistani adults with acute lymphoblastic leukemia.
abstract: BACKGROUND
  The difference in prognosis of adult and childhood acute lymphoblastic leukemia (ALL) can be attributed largely to variation in cytogenetic abnormalities with age groups. Cytogenetic analysis in acute leukemia is now routinely used to assist patient management, particularly in terms of diagnosis, disease monitoring, prognosis and risk stratification. Knowing about cytogenetic profile at the time of diagnosis is important in order to take critical decisions in management of the patients.
  
  
  OBJECTIVE
  To determine the frequency of cytogenetic abnormalities in Pakistani adult patients with ALL in order to have insights regarding behavior of the disease.
  
  
  METHODS
  A retrospective analysis of all the cases of ALL (≥15years old) diagnosed at Aga Khan University from January 2006 to June 2014 was performed. Phenotype (B/T lineage) was confirmed in all cases by flow cytometry. Cytogenetic analysis was made for all cases using the trypsin-Giemsa banding technique. Karyotypes were interpreted using the International System for Human Cytogenetic Nomenclature (ISCN) criteria.
  
  
  RESULTS
  A total of 166 patients were diagnosed as ALL during the study period, of which 151 samples successfully yielded metaphase chromosomes. The male to female ratio was 3.4:1. The majority (n=120, 72.3%) had a B-cell phenotype. A normal karyotype was present in 51% (n=77) of the cases whereas 49% (n=74) had an abnormal karyotype. Of the abnormal cases, 10% showed Philadelphia chromosome; t(9;22)(q34;q11.2). Other poor prognostic cytogenetic subgroups were t(4;11)(q21;q23), hypodiploidy (35-45 chromosomes) and complex karyotype. Hyperdiploidy (47-57 chromosomes) occurred in 6.6%; all of whom were younger than 30 years.
  
  
  CONCLUSIONS
  This study showed a relatively low prevalence of Philadelphia chromosome in Pakistani adults with ALL with an increase in frequency with age (p=0.003). The cumulative prevalence of Philadelphia- negative poor cytogenetic aberrations in different age groups was not significant (p=0.6).
authors.affiliation: Department of Pathology and Microbiology, The Aga Khan University Hospital, Pakistan E-mail : muhammad.shariq@aku.edu.
authors.forename: Muhammad Shariq
authors.initials: MS
authors.lastname: Shaikh
authors.forename: Salman Naseem
authors.initials: SN
authors.lastname: Adil
authors.forename: Mohammad Usman
authors.initials: MU
authors.lastname: Shaikh
authors.forename: Mohammad
authors.initials: M
authors.lastname: Khurshid
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001402:B-Lymphocytes / Q000378:metabolism; D002869:Chromosome Aberrations; D002877:Chromosomes, Human; D020732:Cytogenetic Analysis / Q000379:methods; D005260:Female; D006801:Humans; D007621:Karyotyping / Q000379:methods; D008297:Male; D008677:Metaphase / Q000235:genetics; D008875:Middle Aged; D010154:Pakistan; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D011379:Prognosis; D012189:Retrospective Studies; D055815:Young Adult