Abstract:

Objective To investigate the diagnostic roles of metagenomic next-generation sequencing（mNGS） and Mucorales poly merase chain reaction（PCR） detection in pulmonary mucormycosis in patients with blood diseases. Methods From June 2021 to December 2023，66 patients with Mucorales infection and 39 patients with non-Mucorales infection were enrolled from Institute of Hematology and Blood Diseases Hospital of Chinese Academy of Medical Sciences and Peking Union Medical College. The fungal culture，microscopy and nNGS determination data of 196 clinical samples from 105 patients with Mucorales infection were collected. According to the consensus definition of invasive fungal diseases published by European Organization for Research and Treatment of Cancer/Community for Education and Research of Fungal Research Groups，they were classified into mucormycosis group（65 cases，including 3 confirmed cases，8 clinically diagnosed cases and 54 suspected cases） and control group（40 cases，of which 1 case was positive for Mucorales mNGS）. The clinical characteristics and laboratory determination results of the 2 groups were compared. The results of mNGS were verified by PCR. The efficacy of PCR，traditional method single and combined determinations in the diagnosis of mucormycosis was compared. Results Among the 65 patients with mucormycosis，the highest determination rate of mNGS was Rhizobacterium（46.2%），and the PCR results showed 59（90.8%）positive cases. The sensitivities of PCR for determining Mucorales in blood samples and non-blood samples were 89.7% and 76.9%，respectively. The sensitivities of fungal culture and microscopy were 7.1% and 26.2%. The sensitivity of traditional methods combined with PCR for non-blood samples was 84.6%. The median determination time of mNGS for Mucorales was 1 d，and the difference between traditional methods and mNGS for the median determination time was 12 d. Conclusions The determination of Mucorales by mNGS and PCR is shorter and more sensitive than traditional methods，which has advantages in the early diagnosis of pulmonary mucormycosis.

Key words: Mucorales, Mucormycosis, Metagenomic next-generation sequencing, Polymerase chain reaction, Fungal culture, Microscopy, Molecular diagnosis