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.
Figure 1. The mutations for each gene including synonymous variants (a), and excluding synonymous variants arranged in ascending order (b).
Figure 2.
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 3.
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 4.
Figure 4. Kaplan-Meier survival curves of patients according to (a) gender, (b) metastasis events, (c) smoking, and (d) relapse.

Tables

Table 1. Clinical and Pathological Characteristics of Lung Cancer Patients
 
Clinical and pathological parametersN (%) (n = 121)
Tumor histology
  Non-small cell lung cancer (NSCLC)107 (88)
    Adenosquamous1 (0.8)
    Large-cell neuroendocrine carcinoma1 (0.8)
    Squamous cell carcinoma26 (21)
    Adenocarcinoma79 (65)
  Small cell lung cancer (SCLC)3 (2.4)
    Undefined10 (8)
Gender
  Male101 (83)
  Female20 (17)
Age
  ≤ 6033 (27)
  > 6088 (73)
Clinical stage
  T131 (26)
  T236 (30)
  T338 (31)
  T413 (11)
Metastasis
  Yes9 (7)
  No89 (74)
  Undefined23 (19)
Primary lung tumor
  Yes88 (73)
  No10 (8)
  Unknown23 (19)
Smoking
  Yes87 (72)
  No21 (17)
  Unknown13 (11)

 

Table 2. Indels Variations Detected in All Genes Hot Spots of Panel Analyzed
 
GeneFrameshift typeCDS change: AA changeFrequency (%) (n = 121)
CDS: coding sequence; AA: amino acid.
NRASNon-frameshift deletionc.122_124del:p.R41del1 (0.008)
Non-frameshift insertionc.26_27insGGT:p.V9_G10insV4 (0.033)
DDR2Non-frameshift insertionc.1449_1450insAAATAT:p.E483_P484insKY1 (0.008)
Non-frameshift deletionc.1764_1769del:p.K591_D592del1 (0.008)
Non-frameshift deletionc.2343_2360del:p.F781_Q787delinsL2 (0.0165)
ALKFrameshift insertionc.562_563insAGAAGCTGTC:p.L188Qfs*321 (0.008)
c.2635_2636insAGAAGCTGTC:p.L879Qfs*32
c.3766_3767insAGAAGCTGTC:p.L1256Qfs*32
ERBB4Frameshift insertionc.1720dupG:p.A574Gfs*107 (0.058)
c.1798dupG:p.A600Gfs*10
Frameshift deletionc.720delT:p.F240Lfs*341 (0.008)
c.798delT:p.F266Lfs*34
Frameshift deletionc.712delC:p.Q238Kfs*362 (0.0165)
c.790delC:p.Q264Kfs*36
Frameshift deletionc.248_257del:p.K83Rfs*101 (0.008)
c.326_335del:p.K109Rfs*10
c.149_158del:p.K50Rfs*10
PIKC3AStopgainc.292delT:p.L99*2 (0.0165)
Stopgainc.297delA:p.V101*1 (0.008)
Frameshift deletionc.1246delA:p.E417Rfs*112 (0.0165)
Frameshift insertionc.2686_2687insTG:p.F897Cfs*111 (0.008)
FGFR3Frameshift insertionc.2047dupC:p.A685Gfs*202 (0.0165)
c.2315dupC:p.G774Rfs*24
c.2389dupC:p.A799Gfs*20
Frameshift insertionc.2068dupG:p.S692Lfs*132 (0.0165)
c.2336dupG:p.L781Afs*17
c.2410dupG:p.S806Lfs*13
c.2392dupG:p.S800Lfs*13
c.2404dupG:p.S804Lfs*13
EGFRNon-frameshift insertionc.2161_2162insTGGCCAGCG:p.V724_D725insASV1 (0.008)
c.2296_2297insTGGCCAGCG:p.V769_D770insASV:
c.2137_2138insTGGCCAGCG:p.V716_D717insASV
FGFR1Non-frameshift insertionc.121_122insGTG:p.D40_D41insG2 (0.0165)
c.121_122insGTG:p.D40_D41insG
c.388_389insGTG:p.D129_D130insG
Non-frameshift insertionc.114_115insAAT:p.D38_D39insN2 (0.0165)
c.381_382insAAT:p.D127_D128insN
c.114_115insAAT:p.D38_D39insN
NOTCH1Frameshift insertionc.2331_2332insTG:p.L778Cfs*249 (0.40)
c.4620_4621insTG:p.L1541Cfs*2
c.4734_4735insTG:p.L1579Cfs*2
c.4614_4615insTG:p.L1539Cfs*2
PTENFrameshift deletionc.668_672del:p.F223Lfs*31 (0.008)
c.713_717del:p.F238Lfs*3
c.1232_1236del:p.F411Lfs*3
Frameshift deletionc.750delA:p.K252Rfs*93 (0.025)
c.795delA:p.K267Rfs*9
c.1314delA:p.K440Rfs*9
Frameshift insertionc.910dupA:p.T304Nfs*61 (0.008)
c.955dupA:p.T319Nfs*6
c.1474dupA:p.T492Nfs*6
Frameshift deletionc.918delA:p.N308Mfs*213 (0.025)
c.963delA:p.N323Mfs*40
c.963delA:p.N323Mfs*21
c.1482delA:p.N496Mfs*21
FGFR2Frameshift insertionc.765dupG:p.E256Gfs*662 (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
AKT1Non-frameshift insertionc.87_88insCTC:p.L29_K30insL1 (0.008)
TP53Frameshift insertionc.398dupT:p.R135Tfs*51 (0.008)
c.317dupT:p.R108Tfs*5
c.794dupT:p.R267Tfs*5
c.677dupT:p.R228Tfs*5
Frameshift deletionc.87delC:p.I30Sfs*81 (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
SMAD4Non-frameshift insertionc.326_327insAAAACATGA:p.H111_V112insEKH1 (0.008)
Frameshift insertionc.397_398insACGA:p.V136Tfs*82 (0.0165)
c.397_398insACGA:p.V136Tfs*6
Frameshift insertionc.936dupT:p.P313Sfs*462 (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 parametersCarriers 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 histology0.574
  Small cell lung cancer (SCLC)03
  NSCLC (adenosquamous)01
  NSCLC (large-cell neuroendocrine carcinoma)00
  NSCLC (squamous cell carcinoma)518
  NSCLC (adenocarcinoma)2356
  Unknown77
Gender0.752
  Male2766
  Female819
Age0.946
  ≤ 60720
  > 602158
  Unknown79
Tumor clinical stage0.438
  T1720
  T21122
  T31122
  T464
Metastasis0.797
  Yes39
  No2460
  Unknown817
Primary tumor0.774
  Yes2469
  No37
  Unknown810
Smoking0.484
  Yes2151
  No29
  Unknown1327