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. 2021 Aug 31;18(8):e1003734. doi: 10.1371/journal.pmed.1003734

Fig 1. Study schema.

Fig 1

Patients with imaging- and biopsy-proven MPNST and established PN along with healthy donors were enrolled onto this multi-institutional prospective cohort, with plasma collected for tumor fraction analysis at the time of study enrollment. Tumor fraction was assessed in all collected plasma samples by ULP-WGS followed by in silico size selection for short cfDNA fragments, which was used to train a noninvasive MPNST vs. PN classifier. During subsequent treatment and follow-up, MPNST patients underwent further serial imaging (analyzed by RECIST) and plasma sample collection (analyzed by ULP-WGS and in silico fragment size selection), with results correlated with each other and with clinical outcomes. cfDNA, cell-free DNA; MPNST, malignant peripheral nerve sheath tumor; PN, plexiform neurofibroma; RECIST, response evaluation criteria in solid tumors, version 1.1; SLD, sum of longest tumor diameters; ULP-WGS, ultra-low-pass whole genome sequencing.