Molecular analysis of the retinoblastoma (RB1) gene in acute myeloid leukemia patients

Patient 1: A 48-year-old man was admitted to Osaka Red Cross Hospital because of fever and dyspnea. Laboratory examination revealed pancytopenia, liver dysfunction and hematostatic abnormality. Chest radiographs obtained on admission revealed ground-glass opacity in both lung fields, and an analysis of arterial blood showed severe hypoxemia (PaO2:46.8 Torr). Pulse therapy with methylprednisolone was started. Although the hypoxemia subsided and radiographic findings rapidly improved, pancytopenia persisted. Examination of bone marrow aspirate revealed mature histiocytes with marked hemophagocytosis. Amplified Mycobacterium tuberculosis direct tests of bronchoalveolar lavage fluid, sputum, urine, and bone marrow were all positive, and Mycobacterium tuberculosis was cultured from sputum and urine. Although the patient was taking antituberculous agents, his pancytopenia persosted. Treatment with etoposide induced remssion. Patient 2: A 19-year-old woman was admitted to Osaka Red Cross Hospital because of prolonged cough and fever. Laboratory examination revealed leukocytosis, liver dysfunction, and hematostatic abnormality. Serologic tests provided conclusive evidence of Mycoplasma infection and a CRP test was strongly positive. Chest radiographs obtained on admission revealed infiltration shadows in the middle and lower lung fields on both sides, with left pleural effusion. An analysis of arterial blood showed hypoxemia (PaO2: 54.2 Torr). Examination of bone marrow and pleural effusion samples revealed mature histiocytes with marked hemophagocytosis. Although treatment with antibiotics and pulse therapy with methylprednisolone was started, the patients respiratory functions deteriorated. Endotracheal intubation was performed. Therapy with etoposide induced remission. Hemophagocytic syndrome associated with Mycoplasma infection and tuberculosis appears to be exceedingly rare. In these 2 cases, it was difficult to achieve remission with therapy for the underlying infections, but etoposide treatment was effective.