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. 2017 Jun 23;4(5-6):47–56. doi: 10.18632/oncoscience.352

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