February 2024, Volume 2, Issue 2

Author

Anjali Shastry

Abstract

Introduction: Hyperdiploidy (more than 50 chromosomes) is an important cytogenetic abnormality found in B cell acute lymphoblastic leukemia (B cell ALL). The presence of hyperdiploidy > 50 is considered to be a good prognostic marker since it has increased sensitivity to standard chemotherapy. Patients with hyperdiploidy have the longest disease-free survival compared with any other cytogenetic group. Aim of study: To estimate prevalence of hyperdiploid chromosomes in patients with B cell ALL through conventional karyotyping and Fluorescent in situ hybridization (FISH). Materials and methods: Retrospective study was done on 200 bone marrow samples diagnosed with B cell Acute lymphoblastic leukemia referred to Division of Human Genetics, Department of Anatomy, St. John's Medical college, Bangalore. Samples were subjected to standard protocol for karyotyping and FISH. Percentage of patients who had hyperdiploidy was calculated. Results: Out of 200 samples, 30 samples had hyperdiploidy accounting to 15% of total patients diagnosed with B cell ALL. Conclusion: Conventional cytogenetics and FISH play a very important role in detecting hyperdiploidy since it is vital in risk stratification and treatment in patients with B cell ALL.