Table 4. Molecular profile outcomes for all CUP patients.
Patient | Age at diagnosis (years) | No. of prior systemic therapies | Histology | No. of mutants | Specific mutations and aberrations identified | |
---|---|---|---|---|---|---|
1 | 21.0 | 2 | Epithelioid | 1 | EWSR1-ATF1 fusion | |
2 | 59.0 | 2 | Squamous cell | 6 | PIK3CA H1047R | KDM6A S466* |
ALK L560F | CDC73 Q333* | |||||
SOX2 amplification | CDK12 Q570* | |||||
3 | 17.9 | 2 | Neuroendocrine | 7 | CCND1 amplification | FGF19 amplification |
MYCL1 amplification | FGF3 amplification | |||||
MDM4 amplification | FGF4 amplification | |||||
MLL2 R4904* | ||||||
4 | 21.2 | 3 | Neuroendocrine | 0 | N/A | |
5 | 33.8 | 1 | Adenocarcinoma | 8 | FBXW7 splice 726+1 G>A | APIP-NOTCH1 fusion |
FGFR1 amplification | TP53 L45P, Q38fs*79 | |||||
ARID1A Y1211fs*5 | MYST3 amplification | |||||
ETV1 rearrangement | ||||||
6 | 49.4 | 5 | Squamous cell | 0 | N/A | |
7 | 70.2 | 8 | Carcinoma | 4 | FBXW7 R465H | CCNE1 amplification |
PIK3CA Q75E | TP53 R273C | |||||
8 | 72.0 | 6 | Carcinoma | 2 | FBXW7 W244* | TP53 R248Q |
9 | 49.2 | 2 | Carcinoma | 8 | PIK3CA E545K & amplification | FGFR1 amplification |
SOX2 amplification | ||||||
KRAS amplification | TP53 R196* | |||||
CCND1 amplification | CDKN2A/B loss | |||||
10 | 44.0 | 3 | Carcinoma | 1 | CTNNB1 S33P | |
11 | 72.4 | 3 | Adenocarcinoma | 2 | SMARCB1 I365fs*22+ | SETD2 G1644*, N2071fs*17 |
12 | 24.7 | 0 | Sarcomatoid | 1 | EWSR1-CREB1 fusion | |
13 | 65.0 | 3 | Epithelioid | 2 | EWSR1-NR4A3 fusion | ATRX R840fs*29 |
14 | 56.5 | 2 | Squamous cell | 7 | BRCA2 W1692fs*3 | ARID1A S1929fs*25 |
CDKN2A/B loss | EMSY amplification | |||||
MDM2 amplification | SMAD4 P130S | |||||
SOX2 amplification | ||||||
15 | 63.8 | 7 | Adenocarcinoma | 5 | ERBB2 amplification | TP53 R248W |
CDKN2A/B loss | CREBBP S893L | |||||
MCL1 amplification | ||||||
16 | 71.7 | 8 | Adenocarcinoma | 3 | FGFR3 R399C | NFE2L2 D11Y |
ARID1A E2250fs*28 | ||||||
17 | 48.0 | 1 | Carcinoma | 2 | NF2 splice site 448-1G>A |