World Journal of Oncology, ISSN 1920-4531 print, 1920-454X online, Open Access
Article copyright, the authors; Journal compilation copyright, World J Oncol and Elmer Press Inc
Journal website https://wjon.elmerpub.com

Original Article

Volume 16, Number 2, April 2025, pages 161-172


Actionable Mutations and Survival Rates in Non-Small Cell Lung Cancer

Figures

↓  Figure 1. The mutations for each gene including synonymous variants (a), and excluding synonymous variants arranged in ascending order (b).
Figure 1.
↓  Figure 2. Mutations of actionable genes detected in 121 lung cancer patients (color-coded by gene). Reference genome database: GRCh38, and Human Genome Variation Society (HGVS) nomenclature.
Figure 2.
↓  Figure 3. Mutations of other actionable genes detected in two patients or more. Reference genome database: (GRCh38), and Human Genome Variation Society (HGVS) nomenclature.
Figure 3.
↓  Figure 4. Kaplan-Meier survival curves of patients according to (a) gender, (b) metastasis events, (c) smoking, and (d) relapse.
Figure 4.

Tables

↓  Table 1. Clinical and Pathological Characteristics of Lung Cancer Patients
 
Clinical and pathological parameters N (%) (n = 121)
Tumor histology
  Non-small cell lung cancer (NSCLC) 107 (88)
    Adenosquamous 1 (0.8)
    Large-cell neuroendocrine carcinoma 1 (0.8)
    Squamous cell carcinoma 26 (21)
    Adenocarcinoma 79 (65)
  Small cell lung cancer (SCLC) 3 (2.4)
    Undefined 10 (8)
Gender
  Male 101 (83)
  Female 20 (17)
Age
  ≤ 60 33 (27)
  > 60 88 (73)
Clinical stage
  T1 31 (26)
  T2 36 (30)
  T3 38 (31)
  T4 13 (11)
Metastasis
  Yes 9 (7)
  No 89 (74)
  Undefined 23 (19)
Primary lung tumor
  Yes 88 (73)
  No 10 (8)
  Unknown 23 (19)
Smoking
  Yes 87 (72)
  No 21 (17)
  Unknown 13 (11)

 

↓  Table 2. Indels Variations Detected in All Genes Hot Spots of Panel Analyzed
 
Gene Frameshift type CDS change: AA change Frequency (%) (n = 121)
CDS: coding sequence; AA: amino acid.
NRAS Non-frameshift deletion c.122_124del:p.R41del 1 (0.008)
Non-frameshift insertion c.26_27insGGT:p.V9_G10insV 4 (0.033)
DDR2 Non-frameshift insertion c.1449_1450insAAATAT:p.E483_P484insKY 1 (0.008)
Non-frameshift deletion c.1764_1769del:p.K591_D592del 1 (0.008)
Non-frameshift deletion c.2343_2360del:p.F781_Q787delinsL 2 (0.0165)
ALK Frameshift insertion c.562_563insAGAAGCTGTC:p.L188Qfs*32 1 (0.008)
c.2635_2636insAGAAGCTGTC:p.L879Qfs*32
c.3766_3767insAGAAGCTGTC:p.L1256Qfs*32
ERBB4 Frameshift insertion c.1720dupG:p.A574Gfs*10 7 (0.058)
c.1798dupG:p.A600Gfs*10
Frameshift deletion c.720delT:p.F240Lfs*34 1 (0.008)
c.798delT:p.F266Lfs*34
Frameshift deletion c.712delC:p.Q238Kfs*36 2 (0.0165)
c.790delC:p.Q264Kfs*36
Frameshift deletion c.248_257del:p.K83Rfs*10 1 (0.008)
c.326_335del:p.K109Rfs*10
c.149_158del:p.K50Rfs*10
PIKC3A Stopgain c.292delT:p.L99* 2 (0.0165)
Stopgain c.297delA:p.V101* 1 (0.008)
Frameshift deletion c.1246delA:p.E417Rfs*11 2 (0.0165)
Frameshift insertion c.2686_2687insTG:p.F897Cfs*11 1 (0.008)
FGFR3 Frameshift insertion c.2047dupC:p.A685Gfs*20 2 (0.0165)
c.2315dupC:p.G774Rfs*24
c.2389dupC:p.A799Gfs*20
Frameshift insertion c.2068dupG:p.S692Lfs*13 2 (0.0165)
c.2336dupG:p.L781Afs*17
c.2410dupG:p.S806Lfs*13
c.2392dupG:p.S800Lfs*13
c.2404dupG:p.S804Lfs*13
EGFR Non-frameshift insertion c.2161_2162insTGGCCAGCG:p.V724_D725insASV 1 (0.008)
c.2296_2297insTGGCCAGCG:p.V769_D770insASV:
c.2137_2138insTGGCCAGCG:p.V716_D717insASV
FGFR1 Non-frameshift insertion c.121_122insGTG:p.D40_D41insG 2 (0.0165)
c.121_122insGTG:p.D40_D41insG
c.388_389insGTG:p.D129_D130insG
Non-frameshift insertion c.114_115insAAT:p.D38_D39insN 2 (0.0165)
c.381_382insAAT:p.D127_D128insN
c.114_115insAAT:p.D38_D39insN
NOTCH1 Frameshift insertion c.2331_2332insTG:p.L778Cfs*2 49 (0.40)
c.4620_4621insTG:p.L1541Cfs*2
c.4734_4735insTG:p.L1579Cfs*2
c.4614_4615insTG:p.L1539Cfs*2
PTEN Frameshift deletion c.668_672del:p.F223Lfs*3 1 (0.008)
c.713_717del:p.F238Lfs*3
c.1232_1236del:p.F411Lfs*3
Frameshift deletion c.750delA:p.K252Rfs*9 3 (0.025)
c.795delA:p.K267Rfs*9
c.1314delA:p.K440Rfs*9
Frameshift insertion c.910dupA:p.T304Nfs*6 1 (0.008)
c.955dupA:p.T319Nfs*6
c.1474dupA:p.T492Nfs*6
Frameshift deletion c.918delA:p.N308Mfs*21 3 (0.025)
c.963delA:p.N323Mfs*40
c.963delA:p.N323Mfs*21
c.1482delA:p.N496Mfs*21
FGFR2 Frameshift insertion c.765dupG:p.E256Gfs*66 2 (0.0165)
c.756dupG:p.E253Gfs*64
c.759dupG:p.E254Gfs*66
c.834dupG:p.E279Gfs*64
c.1101dupG:p.E368Gfs*64
c.834dupG:p.E279Gfs*66
c.837dupG:p.E280Gfs*66
c.1104dupG:p.E369Gfs*66
c.417dupG:p.E140Gfs*66
c.834dupG:p.E279Gfs*66
c.1101dupG:p.E368Gfs*66
c.1104dupG:p.E369Gfs*66
AKT1 Non-frameshift insertion c.87_88insCTC:p.L29_K30insL 1 (0.008)
TP53 Frameshift insertion c.398dupT:p.R135Tfs*5 1 (0.008)
c.317dupT:p.R108Tfs*5
c.794dupT:p.R267Tfs*5
c.677dupT:p.R228Tfs*5
Frameshift deletion c.87delC:p.I30Sfs*8 1 (0.008)
c.6delC:p.I3Sfs*8
c.87delC:p.I30Sfs*8
c.483delC:p.I162Sfs*8
c.204delC:p.I69Sfs*8
c.366delC:p.I123Sfs*8
SMAD4 Non-frameshift insertion c.326_327insAAAACATGA:p.H111_V112insEKH 1 (0.008)
Frameshift insertion c.397_398insACGA:p.V136Tfs*8 2 (0.0165)
c.397_398insACGA:p.V136Tfs*6
Frameshift insertion c.936dupT:p.P313Sfs*46 2 (0.0165)
c.936dupT:p.P313Sfs*9

 

↓  Table 3. Correlation of Clinical and Pathological Parameters Between Carriers and Non-Carriers of Actionable Variants
 
Clinical and pathological parameters Carriers of actionable mutationsa (n = 35) Non-carriers of actionable mutations (n = 86) P valueb
aExcluding synonymous mutations. bBased on carriers of one common mutation or more. Chi-squared test or Fisher’s exact test was used (excluding missing data). The result is not significant (P > 0.05).
Tumor histology 0.574
  Small cell lung cancer (SCLC) 0 3
  NSCLC (adenosquamous) 0 1
  NSCLC (large-cell neuroendocrine carcinoma) 0 0
  NSCLC (squamous cell carcinoma) 5 18
  NSCLC (adenocarcinoma) 23 56
  Unknown 7 7
Gender 0.752
  Male 27 66
  Female 8 19
Age 0.946
  ≤ 60 7 20
  > 60 21 58
  Unknown 7 9
Tumor clinical stage 0.438
  T1 7 20
  T2 11 22
  T3 11 22
  T4 6 4
Metastasis 0.797
  Yes 3 9
  No 24 60
  Unknown 8 17
Primary tumor 0.774
  Yes 24 69
  No 3 7
  Unknown 8 10
Smoking 0.484
  Yes 21 51
  No 2 9
  Unknown 13 27