Extramedullary chronic myeloid leukemia – A rare cause of ascites

Abstract

Chronic myeloid leukemia (CML) is a hematopoietic stem cell disease characterized by anemia, extreme blood granulocytosis and granulocytic immaturity, basophilia, often thrombocytosis, and splenomegaly. Extramedullary disease (EMD) occurs in CML blast crisis. In literature, peritoneal involvement in CML chronic phase is reported very rarely to the best of our knowledge. A 60-year-old male patient presented with complaints of significant weight loss over 1-month duration and abdomen distension for 7 days. The patient was pale and had massive ascites on presentation. Blood investigations showed a total count of 61.9 × 109 L, and liver disease was ruled out on imaging. Ascitic fluid analysis showed high protein, elevated adenosine deaminase, ascitic fluid acid-fast bacillus staining was negative, and GeneXpert negative for tuberculosis. Upper gastrointestinal endoscopy and colonoscopy were normal. Ascitic fluid cytology, though negative for malignant cells, showed myeloid precursor cells. Peripheral smear showed a leukemoid reaction. Bone marrow aspiration showed blast <3%. BCR/ABL1 was detected in leukocytes of peripheral blood. The patient was diagnosed with CML – chronic phase with peritoneal involvement as massive ascites – and was started tablet imatinib 400 mg OD and had favorable response to treatment after 3 months with the resolution of ascites and on follow-up. Extramedullary CML such as peritoneal disease serves as a predictor of future blast crisis, and close monitoring is needed for patients with EMD at initial presentation.