Diagnostics
Multispecimen Genomic Profiling Reveals Inter-Specimen Heterogeneity and Supports Ascites as a Complementary Biospecimen in Pseudomyxoma Peritonei
By Shi Yan, Huanhuan Liu, Yiming Kang and 10 others.
Abstract
Background
Pseudomyxoma peritonei (PMP) is a rare peritoneal malignancy with limited genomic data across different biospecimen types. The extent to which ascites and plasma reflect tissue-detected genomic alterations remains incompletely characterized. This study compared genomic profiles across tumor tissue, ascites, and plasma and explored KRAS-defined molecular features in PMP.
Methods
Sixty patients with pathologically confirmed PMP were retrospectively included. Next-generation sequencing (NGS) data were available from tumor tissue in 57 patients, ascites in 40, and plasma in 28, with overlapping specimen availability. Cross-specimen genomic concordance was evaluated in 37 patients with matched tissue–ascites samples, including 28 patients with matched tissue, ascites, and plasma. Exploratory analyses were performed to characterize genomic and pathway-level features across KRAS-defined subgroups.