Chromosomal abnormalities in lung cancer
| Site of mutation | Name of mutation | Frequency | Type of mutation | Function |
|---|---|---|---|---|
| Chromosome 3 (short arm) 3p14.2, 3p21.3, 3p25 | Fragile histidine triad (FHIT) | SCLC ∼100% NSCLC ∼60% (SqCLC ∼100%) | Deletion/loss of heterozygosity (LOH) | Tumour suppressor genes; 3p21.3 codes for a mutator gene |
| Chromosome 8 | MYC | SCLC 30–40% | Translocation (8:14, 8:2, 8:22)/amplification | Oncogene transcription factor |
| Chromosome 9 (short arm) 9p21 | p16 (aka CDKN2) | SCLC >80% NSCLC >50% | LOH/small (<500 kb) deletions | Tumour suppressor gene |
| Chromosome 12 (short arm) 12p | k-Ras | Adeno 30–40% | Point mutations | Oncogene p21. GTPase |
| Chromosome 13 (long arm) 13q | Retinoblastoma (Rb) gene | SCLC >90% NSCLC less common | Point mutations | Tumour suppressor gene |
| Chromosome 14–18 translocation | Bcl-2 (B cell lymphoma/ leukaemia 2) | SqCLC 25% Adeno 10% | Chromosomal translocation | Oncogene, inhibits programmed cell death |
| Chromosome 17 (short arm) 17p13 | p53 (aka TP53) | SCLC ∼75% NSCLC ∼50% (but probably most common single genetic change in all cancers) | Deletion/LOH | Tumour suppressor gene |
| Chromosome 17 (long arm) 17q | c-erb B-2/neu | NSCLC 30–40% | Chromosomal translocation/ amplification | Oncogene, transcription factor |
SCLC = small cell lung cancer; NSCLC = non-small cell lung cancer; SqCLC = squamous cell lung cancer; Adeno = adenosquamous cell lung cancer.