Table 2.
Characteristics of the eight proprietary sporadic MTC patients.
| Patient ID |
Sex | Age (at dx) | TNM | Stage | ETE | Array ID (Primary Tumor) | Array ID (LNM) | RET/RAS Mutation | RET Polymorphisms |
|---|---|---|---|---|---|---|---|---|---|
| 1 | M | 61 | pT1aN1a | III | no | P 1 | M 1 | RET C630R | rs1799939; rs1800863 ** |
| 2 | M | 60 | pT3N1b | IVa | yes | P 2 | M 2 | RET D898_E901del a | wt |
| 3 | M | 56 | pT2mN1b | IVa | no | P 3 | M 3.1; M 3.2 * | RET M918T b | rs1800861 |
| 4 | F | 52 | pT4N1b | IVa | yes | P 4 | M 4 | HRAS Q61K | rs1800861 |
| 5 | M | 50 | pT3mN1b | IVa | yes | P 5 | M 5 * | RET D898_E901del c | rs1799939; rs1800863 |
| 6 | M | 28 | pT3mN1b | IVa | yes | P 6 | M 6 | RET M918T | wt |
| 7 | F | 49 | pT3NX | III | yes | P 7 | M 7 * | RET M918T | rs1799939; rs1800863 ** |
| 8 | M | 41 | pT3N1b | IVa | no | P 8 | M 8 | RET E632_L633del | wt |
Abbreviations: dx, diagnosis; ETE, extra thyroid extension; LNM, lymph node metastasis. * Three metachronous LNMs derived from subsequent lymph node dissection. Mean interval from initial surgery: 20.3 months (patient 3: 24 months, patient 5: 14 months, and patient 7: 23 months); in this interval, patients did not receive any systemic treatment and/or radiotherapy. ** Homozygosis for both polymorphisms. a RET del identified in subsequent testing following its original reporting [15]. b RET M918T mutation detected at low frequency in all the specimens tested for this patient. c RET del data available only for LNM; primary tumor data not evaluable (low-quality DNA).