Limited clinical utility of mutation-based circulating tumor DNA detection in pseudomyxoma peritonei
Blood-based tumor DNA testing has limited sensitivity in appendiceal cancer due to its biology, suggesting alternative monitoring strategies may be more useful.
This prospective study of 95 PMP patients found very low ctDNA detectability (8%) using ddPCR for KRAS/GNAS mutations, attributable to PMP's mucinous biology and peritoneal confinement limiting blood-based tumor DNA shedding. While high-grade disease and elevated CA19-9 independently predicted inferior DFS, mutation-based liquid biopsy has limited utility in this rare cancer under current conditions.
What the study was
- Study design
- Prospective cohort study with ctDNA analysis (ddPCR)
- Population
- Pseudomyxoma peritonei patients (n=95) carrying KRAS and/or GNAS tumor mutations
- Sample size
- 95
- Category
- Diagnostics
- Maturity
- Validated
- Journal
- European Journal of Surgical Oncology
Why it surfaced
Negative finding of clinical importance: establishes that mutation-based ctDNA liquid biopsy is not yet ready for PMP surveillance, guiding resource allocation for rare cancer monitoring.
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