Intestinal mucormycosis initially identified by next-generation sequencing of cell-free DNA

Rachel Martin-Blais; Saumya Pathak; Sean Fitzwater; David W Dawson; Anthony E Sisk; Douglas G Farmer; Robert Venick; Nava Yeganeh

doi:10.1111/tid.13656

Intestinal mucormycosis initially identified by next-generation sequencing of cell-free DNA

Transpl Infect Dis. 2021 Aug;23(4):e13656. doi: 10.1111/tid.13656. Epub 2021 Jun 27.

Authors

Rachel Martin-Blais¹, Saumya Pathak², Sean Fitzwater¹, David W Dawson³, Anthony E Sisk³, Douglas G Farmer⁴, Robert Venick², Nava Yeganeh¹

Affiliations

¹ Department of Pediatrics, Division of Pediatric Infectious Diseases, Mattel Children's Hospital at the University of California, Los Angeles, CA, USA.
² Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology, & Nutrition, Mattel Children's Hospital at the University of California, Los Angeles, CA, USA.
³ Department of Pathology, University of California, Los Angeles, CA, USA.
⁴ Department of Surgery, Division of Liver and Pancreas Transplantation, David Geffen School of Medicine at University of California, Los Angeles, CA, USA.

PMID: 34176206
DOI: 10.1111/tid.13656

Abstract

Mucormycosis is a rare fungal infection that typically affects severely immunocompromised individuals, often resulting in significant morbidity and mortality. Although early and aggressive intervention is necessary to prevent poor outcomes, diagnosis of this infection remains difficult. We report the first case, to our knowledge, of invasive gastrointestinal mucormycosis initially identified by next-generation sequencing of cfDNA from the blood, and discuss the various benefits and challenges which come with new molecular diagnostic techniques.

Keywords: cell-free DNA; invasive fungal infection; mucormycosis; next-generation sequencing; transplant.

Publication types

Case Reports

MeSH terms

Cell-Free Nucleic Acids*
High-Throughput Nucleotide Sequencing
Humans
Immunocompromised Host
Mucormycosis* / diagnosis
Mucormycosis* / drug therapy

Substances

Cell-Free Nucleic Acids