Table 7.
Observed Pathogenic Molecular Alterations and Their Concurrent Diagnosis
| ROM | Molecular alteration |
Malignant, n | Borderline, n | Benign, n | Unchanged on f/u, n | ||
|---|---|---|---|---|---|---|---|
| Alteration | n | ||||||
| MD positive | High ROM, ∼95% to 100% | BRAFV600E | 2 | 2 | 0 | 0 | 0 |
| NTRK3 fusion | 1 | 1 | 0 | 0 | 0 | ||
| RAS + TERT | 2 | 1 | 0 | 0 | 1c | ||
| RAS + TERT + GH type CNAa | 1 | 1 | 0 | 0 | 0 | ||
| RAS + TP53 + EIF1AX | 1 | 1 | 0 | 0 | 0 | ||
| RET | 1 | 1 | 0 | 0 | 0 | ||
| TERT + GH type CNAa | 1 | 0 | 0 | 1 | 0 | ||
| TNIK-TERT fusion + GH type CNAa | 1 | 1 | 0 | 0 | 0 | ||
| TP53 + GH type CNAa | 5 | 3 | 0 | 2 | 0 | ||
| Intermediate ROM, ∼30% to 80% | BRAFK601E | 1 | 0 | 0 | 1 | 0 | |
| CDKN2A | 1 | 0 | 0 | 0 | 1 | ||
| DICER1 | 2 | 0 | 0 | 1 | 1 | ||
| EGFR | 1 | 0 | 0 | 1 | 0 | ||
| EIF1AX | 3 | 1 | 1 | 1 | 0 | ||
| GH type CNAa | 4 | 0 | 1 | 2 | 1c | ||
| HRAS | 5 | 1 | 2 | 2 | 0 | ||
| KRAS | 6 | 2 | 0 | 4 | 0 | ||
| MAP2K1 | 1 | 0 | 0 | 1 | 0 | ||
| NRAS | 11 | 5 | 1 | 5 | 0 | ||
| PAX8/PPARγ | 3 | 1 | 0 | 2 | 0 | ||
| PPARγ/PPARγ | 1 | 0 | 1 | 0 | 0 | ||
| PTEN | 3 | 0 | 0 | 2 | 1 | ||
| RAS + EIF1AX | 2 | 1 | 0 | 1 | 0 | ||
| TERT | 2 | 1 | 0 | 1 | 0 | ||
| MD negative | Low ROM, ∼<30% | GH type CNAb | 3 | 0 | 0 | 3 | 0 |
| RCI type CNA | 7 | 0 | 1 | 5 | 1 | ||
| No class 4/5 alteration28 or CNA | 59 | 2 | 2 | 38 | 17 | ||
a
GH type CNA in high- and intermediate-risk groups are defined as suspicious GH type CNA with 6–23 of 23 affected chromosomes, possible but often no heterogenicity, or GH type CNA with any number of chromosomes affected with (possible) endoreduplication.9
b
Low-risk GH type CNA concern limited, unsuspicious GH type CNA with 1–5 of 23 affected chromosomes, possible heterogenicity, and no signs of endoreduplication.9
c
Patient declined the advised diagnostic surgery.
CNA, copy number alterations; GH type, genome haploidization type; RCI type, reciprocal chromosomal imbalance type.