PMP
PM originating from appendiceal tumors (PMP) has a better prognosis compared to PM-CRC, where current treatment (CRS-HIPEC) may cure up to 50% of the patients. PMP is a rare disease characterized by abundant mucinous tumor tissue in the peritoneal cavity that eventually, if untreated, will compress and destroy the inner organs.
Mutational profiling
Mutational profiling of PMP is hampered as the tumor samples often contains few tumor cells surrounded by an ocean of mucin. This study aims to find the true mutational frequency of the commonly mutated oncogenes, KRAS and GNAS, by using targeted DNA sequencing and more sensitive methods such as ddPCR.
Gene expression profiling
Functional genomics studies in PMP are scarce, and little is known about the downstream effects of the co-occurring KRAS and GNAS mutations. In this study, we perform mRNA sequencing of PMP tumor tissue with and without detectable mutations in the above-mentioned genes, and explore differences in gene expression between the two groups. Genes that are highly expressed will be validated on the protein level with Hyperion imaging, an analysis which also will let us explore the PMP tumor microenvironment.