Abstract for presentation at 11th International Congress of Human Genetics

Cytogenetic Profile of Childhood Acute Lymphoblastic Leukemia in Oman

  • Udaykumar Achandira, Department of Genetics, College Of Medicine & Health Sciences, Sultan Qaboos University, Oman
  • Wafa Bashir, Department Of Child Health, Sultan Qaboos University, Oman
  • Zakia AlLamki, Department Of Child Health, Sultan Qaboos University, Oman
  • Anil Pathare, Department Of Haematology, Sultan Qaboos University, Oman
  • John Raeburn, Department of Genetics, College Of Medicine & Health Sciences, Sultan Qaboos University, Oman
  • Objective: To characterize chromosomal aberrations in Omani children with Acute Lymphoblastic Leukemia (ALL) & compare with reports from other populations.
    Background: ALL is a disease characterized by the abnormal proliferation of immature lymphoid cells and is associated with nonrandom chromosomal abnormalities useful in cytogenetic sub-classification & have important diagnostic and prognostic significance.
    Material and Methods: Successful cytogenetic results were obtained from 47 children, 30 boys & 17 girls (age range from 7 days to 14 years). Chromosomes were obtained by short-term cultures and interpreted after G-banding. The diagnosis of ALL was based on French-American-British (FAB) cytomorphology criteria & the immunophenotyping of bone marrow.
    Results: Among the 47 patients 26(55.3%) showed an abnormal karyotype [10(21.3%) pseudodiploid, 2(4.3%) hypodiploid and 14(29.7%) hyperdiploidy] & 21(44.6%) showed normal diploidy. Structural abnormalities were observed in 16(34%) of which 11(23.4%) were translocations, the most frequent being t(9;22) observed in 3(6.4%) of our patients. Uncommon translocations like t(9;15)(p11;q10), t(3;6)(p12;q11), t(1;6)(?31;?q23), t(1;19)(q12;q12), der(18)t(12;18)(q11;p11) & other structural aberrations like add(2)(q22), add(6)(q16), add(18)(q22), add(14)(q32) along with deletions like del(10)(q22), del(12)(p11), del(12)(p12), del(18)(q11) were also observed. The study showed good correlation & concordance between ploidy & flowcytometry.
    Discussion: This is the first report to our knowledge of a cytogenetic study on childhood ALL from Middle East and is of significant importance to stratify risk groups offer appropriate treatment & predict prognosis. Additional techniques like FISH, RT-PCR & spectral karyotyping as complementary tests in routine service will help identify chromosomal aberrations that are not detected by conventional cytogenetic method alone.

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