A misleading false-negative result of Pneumocystis real-time PCR assay due to a rare punctual mutation: A French multicenter study

作者：Le Gal Solene^*; Robert Gangneux Florence; Pepino Yann; Belaz Sorya; Damiani Celine; Gueguen Paul; Pitous Melanie; Virmaux Michele; Lissillour Eloise; Pougnet Laurence; Guillaud Saumur Thibaud; Toubas Dominique; Valot Stephane; Hennequin Christophe; Morio Florent; Hasseine Lilia; Bouchara Jean Philippe; Totet Anne; Nevez Gilles^*

来源：Medical Mycology, 2017, 55(2): 180-184.

DOI：10.1093/mmy/myw051

• Real time-PCR
• Pneumocystis jirovecii
• PCP
• mutation
• TaqMan (R) MGB probe

This article describes a previously unreported mutation at position 210 (C210T) of the mitochondrial large subunit ribosomal RNA (mtLSUrRNA) gene of Pneumocystis jirovecii, which led to a false-negative result of a real-time polymerase chain reaction (PCR) assay. Since the aforementioned real-time PCR assay is widely used in France, a French multicenter study was conducted to estimate the mutation frequency and its potential impact on the routine diagnosis of Pneumocystis pneumonia (PCP). Through analysis of data obtained from eight centers, the mutation frequency was estimated at 0.28%. This low frequency should not call into question the routine use of this PCR assay.Nonetheless, the occurrence of the false-negative PCR result provides arguments for maintaining microscopic techniques combined to PCR assays to achieve PCP diagnosis.

• 出版日期2017-2