Table 1 Genetic alterations detected in the patient’s primary and recurrent tumor. The patient’s tumor samples were subject to mutation profiling by targeting a panel of 416 cancer-relevant genes including the introns of 19 genes frequently rearranged in solid tumors, including EGFR, ALK, and NTRKs. The patient’s whole blood sample was used to remove the germline mutations. Somatic mutations (filtering criteria: variant allele frequency > =2% and > =5 supporting reads from both directions) were called for each sample. Genomic fusions were identified by FACTERA [6] using default parameters. Copy number variations (CNVs) were detected using CNVkit [7] with default parameters. n.d., not detected
Genes | Alternations | Primary ADC | Primary SC | Relapsed SC |
|---|---|---|---|---|
EGFR | p.745_750del | 18.42% | 13.16% | 23.90% |
NF1 | p.A431S | 26.03% | 20.63% | 33.71% |
CDKN2B | p.1_7del | 14.29% | 10.00% | 17.45% |
CDKN2B | p.L34 L | 5.80% | 6.80% | 8.98% |
SMARCA4 | Exon34–35 deletion | 6.4% | 9.8% | 15.7% |
MET | Amplification | 2.8-fold | 2.6-fold | 4.8-fold |
TP53 | Exon 4, c.97_133 deletion | 7.69% | 7.02% | 14.31% |
TP53 | Exon 4 splicing acceptor, 97-2A > T | n.d. | 4.96% | 10.77% |
AXIN2 | p.L128 L | n.d. | 8.57% | 17.05% |
PHF20-NTRK1 | Fusion | n.d. | n.d. | 51.70% |