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Risk assessment for distant metastasis in differentiated thyroid cancer using molecular profiling: A matched
Linwah Yip1, William E Gooding2, Alyaksandr Nikitski3
1Division of Endocrine Surgery, Department of Surgery, University of Pittsburgh, Pittsburgh, Pennsylvania.
Cancer
|February 4, 2021
Summary
Genetic profiling accurately predicts distant metastasis (DM) risk in differentiated thyroid cancer (DTC). This molecular risk stratification can inform preoperative treatment decisions for DTC patients, improving patient outcomes.
Area of Science:
- Oncology
- Genetics
- Molecular Diagnostics
Background:
- Differentiated thyroid cancer (DTC) risk stratification traditionally relies on pathological tumor characteristics.
- Accurate preoperative prognostication is crucial for optimizing surgical recommendations, especially for patients at high risk of distant metastasis (DM).
Purpose of the Study:
- To characterize the genetic profile of DTC associated with DM.
- To validate a molecular-based risk stratification tool for predicting DM in DTC patients.
Main Methods:
- A case-control study analyzed 62 DTC patients with DM and a matched cohort without DM.
- ThyroSeq version 3 targeted next-generation sequencing was employed.
- Patients were classified into high-risk, intermediate-risk, and low-risk categories based on molecular profiles.
Main Results:
- 66% of DTC patients with DM exhibited late-hit mutations in TERT, TP53, or PIK3CA.
- A high-risk molecular profile strongly correlated with DM (OR, 25.1-122.5; P < .001).
- Molecular risk categories showed significant association with DM risk (concordance index, 0.836), with predicted DM probabilities ranging from 0.2% (low-risk) to 33.5% (high-risk).
Conclusions:
- Molecular profiling using an available assay offers accurate and robust risk stratification for DM in DTC.
- Preoperative genetic risk assessment can enable personalized treatment strategies for DTC patients.
