Diagnostic Usefulness of the Janus Kinase 2 Mutation in non BCR/ABL Myeloproliferative Disorders
This 25 year-old woman visited our hospital in September 2002 with the complaints about a poor oral intake and abdominal discomfort. The abdominal examination revealed hepato-splenomegaly and ascites. Computer tomography of the abdomen showed obstruction of intrahepatic inferior vena cava. Insertion of two stents into hepatic vein was performed. The initial hemoglobin level was 14.2 g/dL, WBC 15,520/µL and PLT 375,000/µL. The BM aspiration and biopsy results showed an increased cellularity (80%) with a decreased M:E ratio (0.7). Iron staining revealed a depleted storage of iron. The initial diagnosis was Budd-Chiari syndrome with secondary polycythemia. During one year of the observation, her hematologic profile was within the normal range, except for leukocytosis (ranges: 12,33 0~28,550). The patient experienced recurrent episodes of spontaneous bacterial peritonitis, hepatic encephalopathy and hepatorenal syndrome. In September 2003 she was admitted to the emergency room and was found dead on arrival. We assume that the cause of the lethal outcome was hepatic failure aggravated by sepsis. After consideration of the JAK2 result, the patient's disease was re diagnosed as PV with a low hemoglobin level resulting from hypersplenism and irondeficiency anemia.