Pakistan Journal of Medicine and Dentistry (May 2024)

Chronic Myeloid Leukemia with Rare e1a3 BCR-ABL Transcript

  • Najia Tabassum,
  • Rubina Ghani,
  • Mohammad Saboor,
  • Moinuddin Moinuddin

Journal volume & issue
Vol. 4, no. 1

Abstract

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Chronic myelogenous leukemia (CML) results from neoplastic transformation of a hematopoietic stem cell. It is cytogenetically characterized by the presence of Philadelphia chromosome which results from reciprocal translocation t(9;22) that juxtaposes the ABL gene on chromosome 9 with breakpoint cluster region (BCR) on chromosome 22 generating BCR-ABL oncogene. All BCR-ABL fusion proteins display activated tyrosine kinase activity. Their different types are associated with different clinical course and prognosis. We report a rare case of e1a3 BCR-ABL transcript. So far only 4 cases in patients with CML have been reported. Key Words: BCR-ABL, e1a3, CML.