Utility of liquid biopsy in diagnosing isolated cerebral phaeohyphomycosis: illustrative case

Annie E Arrighi-Allisan1, Monica M Vidaurrazaga2, Vincent B De Chavez2

  • 1Departments of1Medical Education and.

Abstract

Insights

Next-generation sequencing of cell-free DNA (cfDNA) rapidly identified Cladophialophora bantiana in a liver transplant recipient with brain abscesses. This novel diagnostic approach enabled earlier targeted antifungal therapy, improving patient outcomes.

Area of Science:

  • Mycology
  • Infectious Diseases
  • Transplant Medicine

Background:

  • Cladophialophora bantiana is a rare fungus causing intracranial abscesses, particularly in immunocompromised individuals.
  • While traditionally affecting immunocompetent hosts, it's increasingly recognized as a lethal opportunistic infection in transplant recipients.
  • Effective management hinges on prompt diagnosis and surgical intervention, which can be challenging.

Purpose of the Study:

  • To evaluate the utility of next-generation sequencing of microbial cell-free DNA (cfDNA) for diagnosing invasive fungal infections.
  • To assess the impact of cfDNA sequencing on the management of brain abscesses in transplant recipients.

Main Methods:

  • Case report of a liver transplant recipient presenting with intracranial lesions.
  • Utilized the Karius Test, a commercial next-generation sequencing method for cfDNA analysis.
  • Compared cfDNA sequencing results with conventional microbiological testing.

Main Results:

  • Plasma cfDNA sequencing identified Cladophialophora bantiana six days prior to surgical specimen culture results.
  • This early identification allowed for optimization of antifungal therapy.
  • The optimized regimen led to a reduction in the size of intracranial abscesses.

Conclusions:

  • Microbial cfDNA sequencing offers a rapid and less invasive diagnostic alternative for invasive fungal infections.
  • This technology may significantly improve the management of brain abscesses in immunosuppressed patients with broad differential diagnoses.