Squamous cell carcinoma of the lung represents approximately one-quarter (26.4%) of all lung cancers diagnosed in Appalachian Kentucky, where death from lung cancer is higher than the national average. Researchers sought to characterize genetic alterations specifically found in lung squamous cell carcinomas that originated in Appalachian Kentucky—a cohort not focused on in The Cancer Genome Atlas (TCGA). Their findings were published by Liu et al in Cancer Epidemiology, Biomarkers & Prevention.
Methods and Findings
Researchers performed whole-exome sequencing on samples from 51 participants with squamous cell carcinoma of the lung from Appalachian Kentucky. Whole-exome sequencing included both tumor and normal DNA samples. Researchers then compared the genomic information between the subjects from Appalachian Kentucky and the larger cohort of squamous cell carcinomas of the lung from TCGA.
In Appalachian Kentucky participants, researchers found an average of 237 nonsilent mutations per patient. Comparing this information to the TCGA cohort, alterations in PCMTD1 (18%) and IDH1 (12%) were more common in patients from Appalachian Kentucky than in the larger TCGA cohort. Researchers also identified a mutually exclusive mutation pattern (IDH1, KDM6A, KDM4E, JMJD1CI) involving functionally related genes. Actionable mutations and/or high tumor mutational burden were found in 10% and 65% of participants from Appalachian Kentucky, respectively.
The authors concluded, “This study has identified an increased percentage of IDH1 and PCMTD1 mutations in squamous cell carcinoma [of the lung] arising in … Appalachian Kentucky residents vs TCGA, with population-specific implications for the personalized treatment of this disease.”
Disclosure: The study authors' full disclosures can be found at cepb.aacrjournals.org.
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