AML-214: Case Report: A Rare Case Presentation and Detection of Acute Promyelocytic Leukemia

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Acute promyelocytic leukemia (APL) is an uncommon subtype of acute myeloid leukemia (AML) characterized by the translocation t (15;17) (q22; q21) with a favorable prognosis upon immediate recognition and treatment. It is very rare when the insertion into PML could not be demonstrated by initial FISH and demonstrated by molecular analysis. We present a case of a 44-year-old female who presented in October 2020 to the Emergency Room with severe fatigue and blood tests showing Hb=6 g/dL, thrombocytopenia, and leukopenia (WBC 2.5 x10⁹/L). The patient was admitted to the hospital, where bone marrow biopsy and flow cytometry showed a negative result. Initial diagnosis was mainly related to a viral infection, when the patient had blood transfusion. On December 15, 2020, the patient presented with leukocytosis (55.31 x10⁹/L), anemia (Hb 7.6 g/dL), thrombocytopenia PLT (67 x10⁹/L), and swelling in her right knee. Repeated flow cytometry showed signs of dysplasia with abnormal myeloid lineage. Total body scans showed findings mostly related to underlying myeloproliferative or lymphoproliferative disease with hepatosplenomegaly, as well as retroperitoneal soft tissue thickening encasing the abdominal aorta, with aortic wall mostly related to associated para-neuroplastic aortitis. Stills disease was diagnosed. Initiation of steroids 1 mg/kg was given, leading to amelioration of the patient and less of blood transfusion. After 1 week, a repeated cytogenetics and molecular analysis showed PML-RARA transcripts and t (15;17), negative for acute leukemia, hypercellular aspirate showing left-shifted myeloid hyperplasia, and <1% blasts. She was diagnosed with promyelocytic leukemia and was started on treatment with ATRA + arsenic per guidelines and is now in complete remission.