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  • Title: Aggressive systemic mastocytosis presenting as rapidly progressive ascites, generalised lymphadenopathy and osteosclerosis.
    Author: Arun VA, Soni D, Bal A, Jain A.
    Journal: BMJ Case Rep; 2021 Feb 08; 14(2):. PubMed ID: 33558379.
    Abstract:
    Rapidly progressive ascites is a frequent clinical manifestation of advanced abdominal malignancies or portal hypertension due to liver diseases. We report a case of 61-year-old man who presented with rapidly progressive ascites. The presence of ascites, generalised lymphadenopathy, osteosclerosis on imaging and hepatosplenomegaly initially pointed towards the diagnosis of advanced high-grade lymphoma or accelerated myeloid neoplasm. Lymph node biopsy revealed infiltration by CD45, cKIT and CD30; tryptase and toluidine blue-positive mast cells (MCs). Bone marrow examination revealed infiltration by MCs and next generation sequencing revealed the pathognomic exon 17 D 816V KIT mutation. The patient was started on weekly pegylated interferon with significant symptom relief. Systemic mastocytosis should be considered as a differential diagnosis in a clinical case of ascites of unknown aetiology even in the absence of typical skin manifestations.
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