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Case Report
A rare case of malignancy-associated ascites with no identifiable cause in a 29-year-old female with BRCA1 mutation
1 Medical student, University of Florida College of Medicine, Gainesville, Florida, United States
2 Clinical Assistant Professor, Hospital Medicine, University of Florida College of Medicine, Gainesville, Florida, United States
3 Observer, Hospital Medicine, University of Florida College of Medicine, Gainesville, Florida, United States
Address correspondence to:
Naveen Baskaran
MD, MSHI, Assistant Professor of Medicine, Division of Hospital Medicine, Department of Medicine, University of Florida, P.O. Box 100238, Gainesville, Florida 32610,
United States
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Article ID: 100122Z10AM2023
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Markal AC, Dideban B, Memdani A, Rathi K, Baskaran N. A rare case of malignancy-associated ascites with no identifiable cause in a 29-year-old female with BRCA1 mutation. J Case Rep Images Oncology 2023;9(1):27–31.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.
Keywords: Ascites, Ascitic fluid analysis, BRCA-1 gene mutation, Diagnostic challenges, Diagnostic laparoscopy, Cytology of ascitic fluid, Fresh ovarian biopsy, Frozen section biopsy, Hemorrhagic cyst of the ovary, Malignancy of unknown origin, Malignancy-associated ascites, Paracentesis, Peritoneal biopsy
SUPPORTING INFORMATION
Author Contributions
Asena C Markal - Acquisition of data, Analysis of data, Drafting the article, Final approval of the version to be published
Bahram Dideban - Substantial contributions to conception and design, Revising it critically for important intellectual content, Final approval of the version to be published
Anisha Memdani - Acquisition of data, Interpretation of data, Drafting the article, Final approval of the version to be published
Kanika Rathi - Substantial contributions to conception and design, Revising it critically for important intellectual content, Final approval of the version to be published
Naveen Baskaran - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Guaranter of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementUnfortunately, we were unable to obtain consent in this case. The diagnosis proved to be more challenging than anticipated, leading us to decide on publishing the case. Regrettably, the patient was discharged before we could secure written consent. All necessary measures have been taken to protect the patient’s identity and maintain confidentiality.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest.
Copyright© 2023 Asena C Markal et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
