Intestine and Lower Gastrointestinal Tract · 24 March 2026

High Concordance of cfDNA and Tumor Profiling in Appendiceal Cancer

This study shows that circulating tumor DNA (ctDNA) can accurately reflect the genetic profile of appendiceal cancer, which is crucial for surgical decision-making.

ctDNA from plasma matched tumor genomic profiling with 98.4% concordance overall and 85.7% for actionable mutations.
Key mutations found: KRAS (41%), GNAS (30%), TP53 (30%), and SMAD4 (29%).
High-grade tumors are linked to TP53, SMAD4, and other mutations; GNAS is prevalent in low-grade tumors.

Integrating ctDNA analysis into clinical pathways can enhance patient selection and outcome predictions.

cfDNA concentration can serve as a prognostic biomarker for disease-specific survival and progression.

Journal Article by Patel S, Petrosko P (…) LaFramboise WA et 16 al. in Ann Surg Oncol

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