De Novo AML with BCR-ABL Mutation vs CML in Blast Crisis: A Case Report and Literature Review

Abstract

Background. Acute myeloid leukemia (AML) with the Philadelphia chromosome (Ph+ AML) is a rare and aggressive hematologic malignancy, occurring in approximately 1-2% of all AML cases. This subtype is characterized by the presence of the BCR-ABL1 fusion gene, which significantly impacts prognosis and treatment strategies. Differentiating Ph+ AML from chronic myeloid leukemia (CML) in blast crisis is critical due to distinct therapeutic requirements. Case Summary. A 26-year-old Filipino male presented with a 9-day history of fever, headache, and sore throat. Initial examination revealed anemia, marked leukocytosis, and a peripheral blood smear showing predominantly blasts. Bone marrow biopsy confirmed AML with 62.1% blasts. Cytogenetic analysis identified the Philadelphia chromosome, and molecular testing revealed the BCR-ABL fusion gene. The patient received induction chemotherapy with hydroxyurea and cytarabine, followed by doxorubicin and cytarabine. Despite complications such as neutropenic enterocolitis, the patient achieved remission with a positive response to treatment. Conclusion. Ph+ AML poses significant diagnostic and therapeutic challenges due to its aggressive nature and poor prognosis. Effective management requires accurate diagnosis, integration of tyrosine kinase inhibitors, and potential hematopoietic stem cell transplantation. Further research is needed to optimize treatment strategies and improve outcomes for this rare AML subtype. Personalized treatment and vigilant monitoring for relapse will enhance patient survival and quality of life.