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Research and Reviews: Journal of Oncology and Hematology Case Report

Extra Philadelphia in CML Due to Isodicentric 22: A Case Report

  1. Amudha S. Department of Molecular Biology and Genetics, St. Johns Medical College and Hospital, Bangalore
  2. Sanjukta S. Rao Department of Medicine, St. Johns Medical College and Hospital, Bangalore
  3. Sweta Srivastava Department of Transfusion Medicine & Immuno-Hematology, St. Johns Medical College and Hospital, Bangalore
  4. Raina M. P. Department of Molecular Biology and Genetics, St. Johns Medical College and Hospital, Bangalore
  5. Mary Margaret A. Department of Molecular Biology and Genetics, St John’s Hospital, Bangalore

Abstract

Introduction: Chronic Myelogenous Leukemia is a malignancy that affects the hematopoietic stems cells (HSC) of the bone marrow, leading to the rapid and continual proliferation of granulocytes and precursor blast cells. This is caused due to a reciprocal translocation that occurs between chromosomes 9 and 22, leading to the formation of derivative 22 also called as Philadelphia (Ph) chromosome. The Ph chromosome then encodes a fusion oncoprotein that functions as a tyrosine kinase activator encouraging cellular functions such as cell proliferation and rapid division and providing resistance to apoptosis. CML has been classified into different phases, based on the blast percentage, with symptoms becoming severe as the condition progresses to advanced phases. While the primary marker for this condition tends to be the Philadelphia chromosome, it has been observed that additional Ph observed in accelerated phase is a very important prognostic marker and we present a single case report with isodicentric Ph chromosome. Additional Ph presented as isodicentric is a rare cytogenetic phenomenon associated with CML and the clinical outcome is discussed.

Keywords

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