Abstract
BackgroundThe occurrence of acute leukemia in patients with sickle cell anemia is uncommon. The Philadelphia chromosome is the hallmark of chronic myeloid leukemia. However, it may also be associated with acute lymphoblastic leukemia and acute myeloblastic leukemia. The common BCR-ABL1 transcripts seen in acute lymphoblastic leukemia are e1a2, e13a2, and e14a2, while other transcripts such as e1a3, e13a3, and e6a2 occur rarely. This report describes the presentation, management, and outcome of the occurrence of B-cell acute lymphoblastic leukemia with the rare e1a3 BCR-ABL1 transcript in a patient with sickle cell anemia.Case presentationA 19-year-old male Nigerian, a known sickle cell anemia patient was admitted on account of severe vaso-occlusive crisis. Examination revealed fever, palor, and jaundice. Full blood count showed anemia and leukocytosis. Peripheral blood and bone marrow smears revealed numerous large and small lymphoblasts in keeping with the L2 subtype of acute lymphoblastic leukemia based on the French–American–British classification. Further evaluation was in keeping with a diagnosis of BCR-ABL1-positive mature B-cell acute lymphoblastic leukemia associated with the rare e1a3 transcript. He was commenced simultaneously on induction chemotherapy and Imatinib while being prepared for allogeneic stem cell transplantation. However, he died six months after diagnosis from meningoencephalitis.ConclusionThe occurrence of acute lymphoblastic leukemia with a rare BCR-ABL1 e1a3 transcript in association with sickle cell anemia is uncommon and associated with poor prognosis.
Highlights
Sickle cell anemia (SCA) is the most prevalent hemoglobinopathy worldwide and occurs due to the homozygous inheritance of hemoglobin S (HbS) [1]
We report a rare case of Philadelphia chromosome (Ph)-positive B-cell Acute lymphoblastic leukemia (ALL) with e1a3 BCR-ABL1 transcript in a 19-year-old Nigerian with SCA
The factors associated with this increased risk include chronic inflammation, increased iron levels from frequent transfusions, increased risk of infections, increased erythroid proliferation, and increased bone marrow turnover, which form the pathophysiologic mechanisms of the clinical manifestations of Sickle cell disease (SCD) [12]
Summary
The occurrence of ALL with the rare e1a3 BCR-ABL1 transcript in SCA is associated with poor prognosis. There is need to develop standardized treatment protocols to improve survival. Stem cell transplantation should be made available to patients as early as possible to improve survival. Routine examination of the peripheral blood film of patients with SCA presenting with features of crises is recommended. Molecular techniques should be included in the diagnostic workup of patients with acute leukemia
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