PCR-based detection of Aspergillus fumigatus Cyp51A mutations on bronchoalveolar lavage: a multicentre validation of the AsperGenius assay® in 201 patients with haematological disease suspected for invasive aspergillosis

J Antimicrob Chemother. 2016 Dec;71(12):3528-3535. doi: 10.1093/jac/dkw323. Epub 2016 Aug 15.

Abstract

Objectives: In patients with invasive aspergillosis (IA), fungal cultures are mostly negative. Consequently, azole resistance often remains undetected. The AsperGenius® multiplex real-time PCR assay identifies clinically relevant Aspergillus species and four resistance-associated mutations (RAMs; TR34/L98H/T289A/Y121F) in the Cyp51A gene. This multicentre study evaluated the diagnostic performance of this assay on bronchoalveolar lavage (BAL) fluid and correlated the presence of RAMs with azole treatment failure and mortality.

Methods: Stored BAL samples from patients with haematological diseases with suspected IA were used. BAL samples that were galactomannan/culture positive were considered positive controls for the presence of Aspergillus. Azole treatment failure and 6 week mortality were compared in patients with and without RAMs that had received ≥5 days of voriconazole monotherapy.

Results: Two hundred and one patients each contributed one BAL sample, of which 88 were positive controls and 113 were negative controls. The optimal cycle threshold cut-off value for the Aspergillus species PCR was <38. With this cut-off, the PCR was positive in 74/88 positive controls. The sensitivity, specificity, positive predictive value and negative predictive value were 84%, 80%, 76% and 87%, respectively. 32/74 BAL samples were culture negative. Azole treatment failure was observed in 6/8 patients with a RAM compared with 12/45 patients without RAMs (P = 0.01). Six week mortality was 2.7 times higher in patients with RAMs (50.0% versus 18.6%; P = 0.07).

Conclusions: The AsperGenius® assay had a good diagnostic performance on BAL and differentiated WT from Aspergillus fumigatus with RAMs, including in culture-negative BAL samples. Most importantly, detection of RAMs was associated with azole treatment failure.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Antifungal Agents / pharmacology
  • Antifungal Agents / therapeutic use
  • Aspergillus fumigatus / drug effects
  • Aspergillus fumigatus / genetics*
  • Aspergillus fumigatus / isolation & purification
  • Azoles / pharmacology
  • Azoles / therapeutic use
  • Bronchoalveolar Lavage Fluid / microbiology*
  • Cytochrome P-450 Enzyme System / genetics*
  • Drug Resistance, Fungal*
  • Female
  • Fungal Proteins / genetics*
  • Genotyping Techniques / methods
  • Hematologic Diseases / complications
  • Humans
  • Invasive Pulmonary Aspergillosis / diagnosis*
  • Invasive Pulmonary Aspergillosis / microbiology
  • Male
  • Middle Aged
  • Mutation
  • Polymerase Chain Reaction / methods*
  • Retrospective Studies
  • Survival Analysis
  • Treatment Failure
  • Young Adult

Substances

  • Antifungal Agents
  • Azoles
  • Fungal Proteins
  • Cytochrome P-450 Enzyme System
  • cytochrome P-450 CYP51A, Aspergillus