Molecular Profiling to Determine Genetic Variants in Young Patients With Basal Cell Carcinoma
Posted: Friday, October 1, 2021
Studies that determine molecular profiling of basal cell carcinoma are lacking. Therefore, Marc Abi Karam, MD, and colleagues from Saint Joseph University, Beirut, Lebanon, reported on a subset of young patients with genetic variants in several genes, including PTCH1, TP53, and SMO. Their results were published in BMC Medical Genomics.
“Our results highlight the involvement of the Hedgehog and cell cycle regulation pathways in the genesis of basal cell carcinoma in the general population,” the investigators noted. “The inclusion of a larger cohort of young patients is needed to confirm our findings.”
A total of 28 tumors belonging to 25 Lebanese patients younger than age 40 were included in the study. Next-generation sequencing was used to analyze a subset of 150 genes. The solid tumor panel was selected for the identification of cancer-related genes. Among the patients recruited in this study, 38% had a family history of cancer (including skin cancer).
Next-generation sequencing detected a total of 202 genetic variants in 48 different genes in basal cell carcinoma pathogenesis. Variants with a sequencing depth of at least 50 times were considered a positive hit. Of the 28 tumors studied, 18 (64.3%) had variations in the PTCH1 gene; 6 (21.4%), in TP53, and 3 (10.7%), in SMO.
The authors concluded: “This confirms once more the genetic heterogeneity of skin cancers and highlights the importance of studying larger cohorts of young patients with basal cell carcinoma for a better delineation of the molecular basis of the disease.”
Disclosure: The study authors reported no conflicts of interest.
