Table 3 RET-Mutation Testing and Diagnosis of Hereditary Medullary Thyroid Cancer Syndromes
N | % | |
|---|---|---|
Total patient sample (N) | 203 | 100.0% |
Tested for germline or somatic RET mutation at any timea (n, %) | ||
Yes | 121 | 59.6% |
No/unknown | 82 | 40.4% |
Biomarker testing at or after initial diagnosis of MTC | ||
Patients tested for potential germline and/or somatic mutations at or after initial diagnosis of MTC (n, %) | 95 | 46.8% |
Patients with RET-mutant MTC (n, %) | 45 | 37.2% |
RET mutation identified before initial MTC diagnosis | 25 | 55.6% |
RET mutation identified after initial MTC diagnosis | 20 | 44.4% |
Type of RET mutation among patients with RET-mutant MTC (n, %) | 45 | 37.2% |
M918T | 18 | 40.0% |
C634R | 9 | 20.0% |
C634G | 1 | 2.2% |
Unknown | 17 | 37.8% |
Diagnosis of hereditary MTC syndromes at any time | ||
MEN2A | 8 | 3.9% |
MEN2B | 5 | 2.5% |
Familial MTC | 15 | 7.4% |
No hereditary MTC syndrome diagnosed | 169 | 83.3% |
Unknown/not reported | 6 | 3.0% |