Liquid Biopsy-Based RET Mutation Profiling to Guide RET Inhibitor Treatment in Sporadic Medullary Thyroid Carcinoma May Be Useful in Cases with High Tumor Burden and Progressive Disease
Authors' conclusion
Our study demonstrates that ctDNA analysis may be a valid approach to genotype sMTC patients. Thus, liquid biopsy-based RET mutation profiling may be beneficial in advanced and progressive sMTC cases when primary tumor tissue is unavailable or inadequate for high-quality nucleic acid extraction, enabling RET-inhibitor therapy, if needed, according to specific indications. However, to obtain reliable results, ctDNA molecular profiling should be performed when tumor burden is high and the disease is progressing.
Study context
- Population
- Patients with RET-mutated sporadic medullary thyroid carcinoma (sMTC)
- Participants
- 36 patients
- Exposure
- RET driver mutation detection in plasma circulating tumor DNA (ctDNA) across progressive, treated stable and untreated stable metastatic sMTC
- Outcome
- Detection of RET driver mutation in ctDNA by digital droplet PCR
Main finding
As reported in the abstract
P < 0.001
- Overall detection
- 16/36 (44.4%, CI 27.9-61.9)
- Mean variant allele frequency
- 5.4%
Observational data: associations, not effects.
Further findings
Factors associated with detectable RET-mutated ctDNA
- Disease progression
- P < 0.001
- Higher % of metastatic sites with > five lesions (tumor burden)
- P = 0.001
- Higher serum calcitonin
- P = 0.009
- Higher carcinoembryonic antigen
- P = 0.038
Parts of this Brief are withheld: the automatic checks could not confirm them against the abstract.
Original publication
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