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Completeness of RET testing in patients with medullary thyroid carcinoma in Denmark 1997-2013: a nationwide study
Jes Sloth Mathiesen1,2, Jens Peter Kroustrup3, Peter Vestergaard3,4
1Department of ORL Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark, jes_mathiesen@yahoo.dk.
Insights
Completeness of rearranged during transfection (RET) testing in Danish medullary thyroid carcinoma (MTC) patients was 87%. Guidelines did not improve RET testing rates, but older patients with lower life expectancy were less likely to be tested.
Area of Science:
- Oncology
- Genetics
- Public Health
Background:
- Medullary thyroid carcinoma (MTC) management relies on rearranged during transfection (RET) proto-oncogene testing.
- Previous studies reported 60% RET testing completeness, leaving population-level data unknown.
- The impact of Danish guidelines (2002) on RET testing rates in MTC patients was unassessed.
Purpose of the Study:
- To evaluate the completeness of RET testing in the Danish MTC cohort.
- To assess changes in RET testing completeness before and after 2002 Danish guidelines.
- To characterize MTC patients who did not undergo RET testing.
Main Methods:
- Nationwide retrospective cohort study of 200 MTC patients (1997-2013).
- Cross-referencing MTC cohort with Danish RET cohort (1994-2014) to identify tested patients.
- Medical record review for untested MTC patients to identify demographic and clinical characteristics.
Main Results:
- Overall RET testing completeness in the Danish MTC cohort was 87% (173/200).
- Adjusted completeness, excluding hereditary MTC screening cases, was 83% (131/158).
- Testing completeness was 88% before and 81% after 2002 guidelines; no significant improvement observed.
- Patients not tested were older at diagnosis and had shorter median time to death.
Conclusions:
- Danish MTC patients exhibit higher RET testing completeness compared to other cohorts.
- The 2002 Danish guidelines did not demonstrably improve RET testing rates.
- Advanced age and reduced life expectancy at diagnosis are indicators for identifying MTC patients potentially missing RET testing.
Background:
The completeness of REarranged during Transfection (RET) testing in patients with medullary thyroid carcinoma (MTC) was recently reported as 60%. However, the completeness on a population level is unknown. Similarly, it is unknown if the first Danish guidelines from 2002, recommending RET testing in all MTC patients, improved completeness in Denmark. We conducted a nationwide retrospective cohort study aiming to evaluate the completeness of RET testing in the Danish MTC cohort. Additionally, we aimed to assess the completeness before and after publication of the first Danish guidelines and characterize MTC patients who had not been tested.
Methods:
The study included 200 patients identified from the nationwide Danish MTC cohort 1997-2013. To identify RET tested MTC patients before December 31, 2014, the MTC cohort was cross-checked with the nationwide Danish RET cohort 1994-2014. To characterize MTC patients who had not been RET tested, we reviewed their medical records and compared them with MTC patients who had been tested.
Results:
Completeness of RET testing in the overall MTC cohort was 87% (95% CI: 0.81-0.91; 173/200). In the adjusted MTC cohort, after excluding patients diagnosed with hereditary MTC by screening, completeness was 83% (95% CI: 0.76-0.88; 131/158). Completeness was 88% (95% CI: 0.75-0.95; 42/48) and 81% (95% CI: 0.72-0.88) (89/110) before and after publication of the first Danish guidelines, respectively. Patients not RET tested had a higher median age at diagnosis compared to those RET tested. Median time to death was shorter in those not tested relative to those tested.
Conclusion:
The completeness of RET testing in MTC patients in Denmark seems to be higher than reported in other cohorts. No improvement in completeness was detected after publication of the first Danish guidelines. In addition, data indicate that advanced age and low life expectancy at MTC diagnosis may serve as prognostic indicators to identify patients having a higher likelihood of missing the compulsory RET test.
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