A rare case of malignancy-associated ascites with no identifiable cause in a 29-year-old female with BRCA1 mutation

Abstract

Introduction: We present a challenging case of a 29-year-old female with a detected Breast Cancer gene 1 (BRCA1) gene mutation who presented to us with an ascites the cause of which remained undiscovered even after appropriate testing. Case Report: A 29-year-old female presented with a five-month history of worsening intermittent abdominal pain which recently became constant and worsened in intensity without any identifiable trigger. She also had complaints of constipation for the past 2–3 days. Her past medical history was positive for (BRCA1) mutation which was tested after her mother’s diagnosis of breast cancer. Further evaluation revealed our patient had ascites, which was drained to collect 12 liters of fluid. The cytology and culture of ascitic fluid were negative, but total protein concentration or Serum to ascites albumin gradient (SAAG) ratio were concerning for a malignant cause of her ascites. She underwent multiple imaging and biopsies and the cause remain unidentified. Conclusion: By this report we want to shed light on the diagnostic challenges of malignancy-associated ascites in patients without peritoneal carcinomatosis. The high false-negative of ascitic fluid cytology in such cases makes it an unreliable test for evaluation. We performed fresh ovarian biopsies which were benign and highlight the need for further research to assess the false negative rates in frozen versus fresh biopsies while evaluating malignancy-associated ascites in patients with an unknown primary cause.