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Table 3 Genomic alterations detected in the 15 samples

From: GNAS mutations as prognostic biomarker in patients with relapsed peritoneal pseudomyxoma receiving metronomic capecitabine and bevacizumab: a clinical and translational study

ID Mutations detected by NGS
Tumor content (%) KRAS mutation Mutant alleles (%) Mutant alleles normalized for tumor content (%) HS GNAS mutation Mutant alleles (%) Mutant alleles normalized for tumor content (%) HS Other mutations (mutant alleles; normalized for tumor content; HS) MGMT methylationa MET Expressionb MET amplificationc
1 45 G12C 12 27 54 R201H 16 36 72   No 300 No
2 40 G12D 26 65 130 R201H 24 60 120   Yes 100 No
3 30 WT – – – WT – – –   No 60 No
4 40 G12D 12 30 60 R201H 11 28 56   No 80 2 % small clusters
5 20 G13D 7 35 70 WT – – – TP53 R248 W (20 %;100 %; 200) No 250 >5 signals in < 50 % cells
6 10 G13D 4 40 80 WT – – –   Yes 180 No
7 20 G12D 9 45 90 WT – – – FGFR3 A257 V (9 %; 45 %; 90) LKB1 P319S (8 %; 40 %; 80) No 90 No
8 50 G12D 13 26 52 R201C 14 28 56 TP53 R273H(23 %; 46 %; 92) HNF1A R278 W (5 %; 10 %; 20) No 10 No
9 50 G12D 30 60 120 R201H 15 30 60   Yes 140 No
10 30 G12 V 8 27 54 R201H 3 10 20   No 160 1 % small clusters
11 20 G12 V 18 90 180 WT – – – TP53 C238F (19 %; 95 %; 190) No 60 NO
12 10 G12D 1 10 20 R201H 6 60 120   No 90 No
13 35 G12V 5 14 28 R201H 10 29 58   No 90 No
14 80 G12D 23 29 58 R201H 24 30 60   No 60 No
15 30 G12D 4 13 26 WT – – –   No 140 No
  1. a MGMT methylation status is assessed by methylation-specific Polymerase chain reaction
  2. b MET expression is assessed by immunohistochemistry and is reported as H-score
  3. c MET amplification status is assessed by in situ hybridization
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Journal of Translational Medicine

ISSN: 1479-5876

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