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Fig. 4. | Genome Medicine

Fig. 4.

From: Tumor fraction-guided cell-free DNA profiling in metastatic solid tumor patients

Fig. 4.

cf-IMPACT revealed actionable alterations in plasma without prior knowledge from tumor. a Treatment timeline of a metastatic prostate cancer patient whose initial prostate needle biopsy and bone biopsy showed negative results on tumor MSK-IMPACT testing. cf-IMPACT revealed MSI-High status and a high tumor mutational burden. A later tumor biopsy confirmed these results and the patient was then treated with pembrolizumab resulting in a significant clinical response, as reflected by a sharp drop in serum PSA from 118 to 6 within a month and later to undetectable levels. b Summary of the number of patients analyzed by cf-IMPACT and the proportion with somatic variants of potential clinical actionability according to the OncoKB knowledgebase. De novo analysis refers to the identification of mutations without prior knowledge of the tumor mutational profile. Mutations detected refers to the genotyping of mutations in cfDNA based on prior knowledge of the matching tumor. c Summary of mutations in patients with OncoKB level 1–4 variants (gene name shown) identified in plasma cfDNA. Mutations that were detected in both tumor and plasma are indicated with a dot and a filled square. Mutations detected only in plasma but not in the matched tumor are indicated with a filled square. Mutations detected in plasma in patients for whom tumor analysis was not available are indicated with a filled square with a line. The colors of the boxes represent the corresponding OncoKB annotations (green=level 1, dark purple=level 3A, light purple=level 3B, gray=level 4)

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