PMC9218804_01
Schematic diagram of Onco-mNGS and a clinical case in which Onco-mNGS was applied and cancer was diagnosed. (A) Timeline beginning with the patient's initial complaint and ending with a final diagnosis. Major events during the course of the patient's illness are indicated by arrows. (B) CT and MRI scans obtained during the patient's first hospitalization revealed bone destruction of the 9th thoracic vertebrae and right appendix with a paravertebral soft tissue shadow. The lesion is indicated by the white arrow. (C) Three CNV results generated at different sampling times. The first and second NGS tests were performed before chemotherapy, and the third one was performed after chemotherapy. (D) Results of the repeated bone biopsy showing infiltrating, actively proliferating B lymphocytes evidenced by 60% CD20 and Ki67 positive, consistent with manifestation of diffuse large B cell lymphoma.
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A 58-year-old female presented after 2 months with right chest and back pain with no fever ( Figure 4A ). A CT scan revealed destruction of the 9th thoracic vertebra and the right appendix with paravertebral soft tissue shadow ( Figure 4B ). Onco-mNGS analysis failed to detect microorganisms in her peripheral blood, but revealed deletions and duplications of large segments in several chromosomes that generated a strong abnormal CNV-based tumor signal ( Figure 4C ). This finding encouraged treating physicians to obtain a second bone biopsy; the result revealed diffuse large B cell lymphoma of the non-germinal center B cell type ( Figure 4D ).