2203 Rare Presentation of a Mast Cell Neoplasm as Liver Fibrosis

Abstract

INTRODUCTION: Primary myelofibrosis (PMF) is a chronic myeloproliferative disorder characterized by bone marrow fibrosis and extramedullary hematopoiesis mainly involving the liver and spleen. Clinical manifestations of the disease include severe anemia, marked hepatosplenomegaly, constitutional symptoms, cachexia, bone pain, pruritus, thrombosis, and bleeding. Super imposed mast cell neoplasm, in a patient with myelofibrosis is rare. Ascites and liver enzyme derangement as the only presenting symptom of these hematological malignancies, is seldom seen. CASE DESCRIPTION/METHODS: 54-year-old female, with what was originally thought to be newly diagnosed, decompensated cirrhosis, who was admitted to the hospital with worsening dyspnea and abdominal pain. The patient was suspected to be septic, and admitted to the MICU. Biochemical work up revealed a total bilirubin of 6.5, AST 65, ALT 32, INR 1.3, WBC 28k and platelet count of 12,000. However, during her hospital stay she continued to have worsening of jaundice and liver enzyme derangement, thus the hepatology service was consulted. The patient’s labs were consistent with alcoholic liver disease, but the patient vehemently denied heavy alcohol use. Given the severe thrombocytopenia, out of proportion to usual levels seen in cirrhosis, the hematology/oncology service was consulted. Trans-jugular liver biopsy showed extramedullary hematopoiesis and myelofibrotic changes with superimposed mast cell neoplasm. Subsequently, bone marrow biopsy also revealed erythroid hyperplasia with marked dyserythropoiesis, consistent with myelodysplastic syndrome, in addition to extensive bone marrow involvement by malignant mast cell neoplasm. DISCUSSION: Resultant hepatosplenomegaly from PMF in patients may lead to non-cirrhotic portal hypertension, which can lead to variceal bleeding or ascites. These symptoms prior to systemic manifestations of a myeloproliferative neoplasm, are rare. Acute liver failure, as the initial presentation of PMF and mast cell neoplasm is not commonly reported in medical literature. The overall prognosis is generally poor with liver involvement an indicator of an advanced stage of the disease.