Disseminated
Rhizomucor pusillus infection is a very rare but fatal complication in immunocompromised patients, because of aggressive clinical process with delayed diagnosis by routine laboratory tests. Recently,
cell-free DNA next-generation sequencing (
cfDNA NGS) has been used for the timely detection of infectious pathogens including
mucormycosis. Herein, we described an 18-year-old male with Philadelphia-like
acute lymphoblastic leukemia who received a timely diagnosis of R. pusillus
infection by
cell-free DNA next-generation sequencing, and confirmed by
silver staining and qPCR on biopsy tissue. To the best of our knowledge, this was the first case of disseminated R. pusillus
infection detected by
cfDNA NGS and confirmed by histology in an adult
leukemia patient. In addition, this case was supposed to be the most extensive R. pusillus
infection diagnosed, involving the lung, skin, liver, kidney, spleen and brain, and the only one case who survived the
infection had a favorable outcome through treatment with
liposome amphotericin B sequential
posaconazole. This case suggested that
cfDNA NGS could be used to successfully detect rare pathogen
infections, and this was especially important for R. pusillus because timely diagnosis and effective treatment could improve the prognosis of this kind of patient.