Fig 1.
Workflow used for exome sequencing of nine pseudomyxoma peritonei specimens and their matching control samples.
Table 1.
Tumor cell content of pseudomyxoma peritonei FFPE samples estimated from HE stainings, and variant allele frequencies (VAF) of KRAS and GNAS from targeted sequencing.
Table 2.
Comparison of KRAS and GNAS mutations detected with targeted sequencing, exome sequencing and validation sequencing.
Fig 2.
Exome-wide statistics of filtered somatic SNV and indel calls.
(A) Number of SNVs and indels. (B) Total number of somatic nucleotide base changes. (C) Ts to Tv ratio of each tumor. SNV: single nucleotide variation; indel: insertion/deletion; Ts: transition; Tv: transversion.
Table 3.
Variants detected on pseudomyxoma peritonei by exome sequencing and validated by ultra-deep amplicon sequencing.
Fig 3.
Gene mutations identified in pseudomyxoma peritonei (PMP).
Nine appendix-derived PMP samples were analyzed for grade and cellularity, using HE slides and NGS, respectively. Somatic mutations were identified using exome sequencing and validated by ultra-deep amplicon sequencing. HG: high-grade; LG: low-grade. * [9].
Fig 4.
Gene mutations related to PKA and TGF-β pathways in pseudomyxoma peritonei.
(A) Variants of PKA pathway. (B) Variants of TGF-β pathway. Pathways have been modified from KEGG [40]. PKA: protein kinase A; TGF-β: transforming growth factor beta.