Table 1.
Clinicopathological and molecular features of ACTH-producing neuroendocrine neoplasms (n = 21)
| No | Age/sex | Site | Histology | SSTR2A | BCOR IHC | RNA panel | Other molecular findings (TSO500 DNA panel) |
|---|---|---|---|---|---|---|---|
| 1 | 53/M | Pancreas | NETG3 (Ki67:55%) | + | + (wk.) |
EWSR1::BEND2 t(X;22)(p22;q12): chr22:29,688,158 (Exon 10; 3′-end) chrX:18,234,853 (Exon 2; 5′-end) |
No pathogenic mutations in MEN1, ATRX, DAXX, FUBP1, BCOR, VHL, or other genes |
| 2 | 29/M | Pancreas | NETG3 (Ki67:25%) | + | - |
KMT2A::BCOR t(11;X)(q23;p11): chr11:118,350,953 (Exon 6, 3′-end) chrX:39,923,852 BCOR (Exon 7, 5′-end) |
Likely pathogenic TSC1 mutation (p.S505LfsTer27; VAF: 3%) No pathogenic mutations in MEN1, ATRX, DAXX, FUBP1, BCOR, VHL, or other genes |
| 3 | NA | Pancreas | NETG2 (Ki67: 5%) | NA | - | Failed | No BCOR mutation* |
| 4 | 34/F | Pancreas | NETG2 (Ki67:10%) | + | + (wk.-moderate) | Failed | No BCOR mutation* |
| 5 | 15/M | Pancreas | NETG2 (Ki67:4%) | + | NA | Failed | No BCOR mutation* |
| 6 | 02/M | Pancreas | NETG1 (Ki67: < 2%) | NA | NA | Failed | No BCOR mutation* |
| 7 | 63/F | Pancreas | NETG2 (Ki67:20%) | + | + (wk.) | Failed | No BCOR mutation* |
| 8 | 44/F | Pancreas | NETG2 (Ki67:3%) | + | - | Failed | No BCOR mutation* |
| 9 | 36/F | Pancreas | NETG1 (Ki67: < 2%) | + | - |
EWSR1::BEND2 t(X;22)(p22;q12): chr22:29,688,595 (Exon 11; 3′-end) chrX:18,222,035 (Exon 5; 5′-end) |
No pathogenic mutations in MEN1, ATRX, DAXX, FUBP1, BCOR, VHL, or other genes |
| 10 | 48/F | Pancreas | NETG3 (> 20%) | + | NA |
TFG::ADGRG7 t(3;3) (q12.1; q12.1): Chr3: 100,438,902 (Exon 3; 3′-end) Chr3: 100,348,442 (Exon 2; 5′-end) |
FUBP1: c.289dupA, p.S97Kfs*25 (53%). VHL: c.331A > T, p.S111C (60%); no ATRX, DAXX, MEN1, or BCOR mutations |
| 11 | 21/M | Lung | AC (Ki67: 3%) | NA | - | Failed | No BCOR mutation* |
| 12 | 49/F | Lung | TC (Ki67: 1%) | NA | - | No fusion (poor quality) | No BCOR mutation* |
| 13 | 70/M | Lung | AC (Ki67: 24%) | - | NA | No fusion | No BCOR mutation* |
| 14 | 48/F | Lung | AC (Ki67: 30%) | NA | + (wk.) | No fusion (poor quality) | No BCOR mutation* |
| 15 | 60/F | Lung | AC (Ki67: 2.4%) | + | NA | Failed | No BCOR mutation* |
| 16 | 74/M | Lung | AC (Ki67: 2%) | - | - | Failed | No BCOR mutation* |
| 17 | 49/F | Lung | AC (Ki67: 2%) | + | - | Failed | No BCOR mutation* |
| 18 | 53/F | Lung | AC (Ki67: 5%) | + | - | No fusion | No BCOR mutation* |
| 19 | 34/F | Lung | TC (Ki67: 1%) | + | - | No fusion | No BCOR mutation* |
| 20 | 42/M | Mediastinal/thymus | AC (Ki67: 13%) | - | - | No fusion (poor quality) | No ATRX, DAXX, MEN1, or BCOR mutations |
| 21 | 54/F | Kidney | AC (Ki67: 12%) | - | - | No fusion | No BCOR mutation* |
AC, atypical carcinoid; ANED, alive with no evidence of disease; DOD, died of disease; mo, months; NA, not available; NET, neuroendocrine tumor; NEC, neuroendocrine carcinoma; post-op, postoperative; TC, typical carcinoid; wk., weak
*Verified using the RNA-based variant assessment