2.
患者二代基因测序结果汇总
A summary of NGS results
| No. | Gene | CSF (NGS) | Plasma (NGS) | Else (NGS) |
| CN: copy number; CNG: copy number gain; CND: copy number decrease; MM: missense mutation; DM: deletion mutation; FM: frameshift mutation; TM: truncated mutation; TP53: tumor protein tp53 gene; MET: mesenchymal-epithelial transition factor; ERBB2: human epidermal growth factor receptor 2; RB1: retinoblastoma 1 gene; CDK4: cyclin-dependent kinase 4 gene; APC: WNT signaling pathway regulator gene; NF1: neurofibromin 1; LRP1B: LDL receptor related protein 1B; SMARCA4: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4; MTOR: mechanistic target of rapamycin; MCL1: MCL1 apoptosis regulator; TERC: telomerase RNA component; TERT: telomerase reverse transcriptase; MED12: mediator complex subunit 12; PIK3CA: phosphatidylinositol-4, 5-bisphosphate 3-kinase catalytic subunit alpha; MYC: v-myc avian myelocytomatosis viral oncogene homolog gene; PDCD1: programmed cell death 1; WDR43: WD repeat domain 43; ABL1: ABL proto-oncogene 1; AR: androgen receptor; AKT1: AKT serine/threonine kinase 1; ATR: ATR serine/threonine kinase; ATRX: ATRX chromatin remodeler; CHEK2: checkpoint kinase 2; CDKN2A: cyclin dependent kinase inhibitor 2A gene; CNTNAP5: contactin associated protein family member 5; CTNNB1: catenin beta 1; ESR1: estrogen receptor 1; GRIN2A: glutamate ionotropic receptor NMDA type subunit 2A; JAK3: Janus kinase 3; KEAP1: kelch like ECH associated protein 1 gene; LRP1B: LDL receptor related protein 1B; MYCN: v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog; NTRK1: neurotrophic receptor tyrosine kinase 1; NTRK3: neurotrophic receptor tyrosine kinase 3; SETD2: SET domain containing 2; SOX2: SRY-box transcription factor 2; VEGFA: vascular endothelial growth factor A; SETD2: SET domain containing 2; SKP2: S-phase kinase associated protein 2; SRC: SRC proto-oncogene. | ||||
| 1 | EGFR | EGFR 19del (E746_A750del) (66.8%); ATRX MM (T429I) (34.8%); MET MM (I214M) (14.9%); SETD2 MM (K2541N) (17.1%); TP53 MM (R273H) (2.7%); TP53 MM (H179Q) (0.7%) | EGFR 19del (E746_A750del) (0.9%); ATRX MM (T429I) (2.0%); SETD2 MM (K2541N) (1.4%); TP53 MM (R273H) (2.6%); TP53 MM (H179Q) (0.3%) | |
| 2 | EGFR | EGFR 19del (L747_A750del) (18.3%); APC FM (Q1062*) (12.6%); SKP2 MM (R154W) (9.1%) | EGFR 19del (L747_A750del) (5.6%); APC FM (Q1062*) (10.1%); LRP1B MM (G2173E) (4.7%); SKP2 MM (R154W) (5.7%) | Hydrothorax:EGFR 19del (L747_A750del) (80.9%); APC FM (Q1062*) (73.5%); TERC CNG (CN=3.5); SRC CNG (CN=2.0); LRP1B MM (G2173E) (0.6%); SKP2 MM (R154W) (22.5%) Tissue:EGFR 19del (L747_A750del) (29.9%); APC FM (Q1062*) (33%); SKP2 MM (R154W) (13.0%) |
| 3 | EGFR | EGFR L858R (76.9%); CDK4 CNG (CN=4.5); SMARCA4 TM (W922*) (42.5%); MTOR MM (M1650I) (18.3%) | EGFR L858R (0.2%) | |
| 4 | EGFR | EGFR 19del (E746_A750del) (37.2%); LRP1B MM (V1432E) (0.6%) | Negative | |
| 5 | EGFR | EGFR L858R (52.3%); EGFR T790M (0.4%); EGFR CNG (CN=2.3); TP53 FM (I162SfsX5) (36.8%) | EGFR L858R (0.6%); EGFR T790M (0.1%); TP53 FM (I162SfsX5) (0.1%) | |
| 6 | EGFR | EGFR 19del (K745_A750del) (54.8%); TP53 mutation (G783-1T) (76.7%) | Negative | |
| 7 | EGFR | EGFR 19del (L747_A750del+T751del) (4.2%); CTNNB1 MM (E77K) (5.5%) | Negative | |
| 8 | EGFR | EGFR (L858R) (83.5%); EGFR CNG (CN=2.0); MCL1 CNG (CN=2.6); TERC CNG (CN=2.0); TERT CNG (CN=2.1); MED12 mutation (G1249-1T) (9.0%); RB1 TM (Q471X) (88.6%); TP53 FM (L93fs) (88.3%) | EGFR (L858R) (3.5%); EGFR (T790M) (0.2%); PIK3CA mutation (E545K) (0.9%); TP53 FM (L93fs) (1.4%) | |
| 9 | EGFR | EGFR (L858R) (0.6%); TP53 (R273H) (1.7%) | TP53 (R273H) (0.1%) | |
| 10 | EGFR | EGFR 19del (T751_I759del) (6.6%); EGFR (T790M) (2.1%); AKT1 MM (M178V) (3.8%); ATR MM (Q1732L) (1.0%); TP53 MM (C176F) (3.7%) | EGFR 19del (T751_I759del) (3.3%); EGFR (T790M) (0.1%); AKT1 MM (M178V) (2.5%); TP53 MM (C176F) (0.8%) | Tissue:EGFR 19del (T751_I759del) (43.0%); EGFR (T790M) (0.3%); AKT1 MM (M178V) (29.0%); TP53 MM (C176F) (58.0%) |
| 11 | EGFR | EGFR (L858R) (1.58%); EGFR CNG (CN=36.8); TP53 MM (A282G) (97.64%); MYC CNG (CN=53.9); RB1 CND (CN=0.0) | EGFR (L858R) (1.29%); TP53 MM (A282G) (1.03%); EGFR CNG (CN=3.3); ERBB2 CNG (CN=2.4); MYC CNG (CN=3.4) | |
| 12 | ALK | EML4-ALK (E6:E20) (1.6%) | Negative | |
| 13 | ALK | EML4-ALK (E18:E20) (54.9%); MET CNG (CN=5.2) | EML4-ALK (E18:E20) (8.7%); MET MM (L1195V) (4.1%); MET MM (D1228N) (2.8%) | |
| 14 | ALK | EML4-ALK (E13:E20) (0.5%); CDKN2A (c.151-557_180del) (2.0%); PDCD1 (c.711_*384del) (2.4%) | EML4-ALK (E13:E20) (0.1%); CDKN2A (c.151-557_180del) (0.03%) | |
| 15 | ALK | EML4-ALK (E13:E20) (16.6%) | EML4-ALK (E13:E20) (0.7%) | |
| 16 | ALK | CNTNAP5-ALK (C2:A20) (63.1%); WDR43-ALK (Wintergenic: A20) (67.7%); MET MM (P1330L) (50.42%) | Negative | |
| 17 | ALK | EML4-ALK (E13:E20) (29.7%); MET CNG (CN=10.3); MET MM (G667C) (0.2%); ABL1 MM (A945T) (0.2%); AR MM (A897T) (0.8%); CHEK2 MM (K373E) (2.6%); ESR1 MM (R394C) (0.6%); GRIN2A MM (D45N) (0.2%); JAK3 MM (S931L) (0.6%); KEAP1 MM (L81Q) (0.6%); LRP1B MM (P1139H) (1.5%); MYCN MM (T8I) (0.6%); NTRK1 MM (E295G) (1.3%); NTRK1 MM (P302S) (1.4%); NTRK3 MM (R138Q) (0.3%); SETD2 MM (H2409L) (1.0%); SOX2 MM (R57H) (0.2%); SOX2 MM (L127Q) (0.9%); VEGFA MM (R396S) (0.5%) | Negative | |
| 18 | ROS1 | CD74-ROS1 (E6:E34) (38.8%); ROS1 (G2032R) (39.8%); NF1 (A702H) (26.3%) | CD74-ROS1 (E6:E34) (0.3%) | |