Table 4 Mutually exclusive genetic alterations occurring in ≥75% of the not benefiting (top) and benefiting (bottom) cohorts.
From: A phase II study of ENMD-2076 in advanced soft tissue sarcoma (STS)
Gene | Variation | Mutation | Number Not Benefiting (n = 8) | Fisher’s Exact; p-value | Cellular Pathway Relationship |
|---|---|---|---|---|---|
Mutations in not benefiting patients | |||||
RSPH4A | SNV | exon4:c.T1766C:p.L589P | 8 | 0.002 | Ciliary scaffold protein |
PLC-E1 | SNV | exon19:c.G3800C:p.R1267P exon20:c.G4676C:p.R1559P exon20:c.G4724C:p.R1575P | 7 | 0.01 | Calcium signaling pathway; Inositol phosphate metabolism |
EVC | SNV | exon12:c.G1727A:p.R576Q | 6 | 0.03 | Hedgehog Signaling. Ellis Van Creveld syndrome |
LINS | SNV | exon5:c.G1216A:p.V406M | 6 | 0.03 | WNT signaling pathway regulator |
ADAMTS18 | SNV | exon22:c.G3476C:p.S1159T | 6 | 0.03 | Disintegrin metalloproteinase |
GPR98 | SNV | exon82:c.G17626A:p.V5876I | 6 | 0.03 | Adhesion receptors; G-protein coupled receptor |
Mutations in benefiting patients | |||||
Gene | Variation | Mutation | Number Benefiting (n = 4) | Fisher’s Exact; p-value | Cellular Pathway Relationship |
PDHX | SNV | c.A301G | 4 | 0.002 | Metabolism of carbohydrates. Pyruvate Dehydrogenase |
KNL1 | SNV | exon10:c.A4339G:p.T1447A exon11:c.A4417G:p.T1473A | 3 | 0.018 | Cell Cycle, Mitotic. Kinetochore Scaffold |
SREBF2 | SNV | exon14:c.G2580C:p.R860S | 3 | 0.018 | Cholesterol homeostasis |
LPL | SNV | exon9:c.C1421G:p.S474X | 3 | 0.018 | Metabolism of lipids and lipoproteins |
PTPRB | SNV | exon6:c.T1245G:p.D415E | 3 | 0.018 | Adherens junction; Angiogenesis |
exon8:c.T1899G:p.D633E | |||||
TP53-I3 | SNV | exon4:c.A688G:p.T230A | 3 | 0.018 | p53 signaling pathway; apoptosis |
