Basal Cell Carcinoma Gene Mutations Differ Between Asian, Hispanic, and Caucasian Patients: A Pilot Study.
Aged
Asian People
/ genetics
Biomarkers, Tumor
/ genetics
Carcinoma, Basal Cell
/ diagnosis
Cohort Studies
DNA Mutational Analysis
/ statistics & numerical data
Female
Hispanic or Latino
/ genetics
Humans
Male
Middle Aged
Mutation
Pilot Projects
Skin
/ pathology
Skin Neoplasms
/ diagnosis
White People
/ genetics
Journal
Journal of drugs in dermatology : JDD
ISSN: 1545-9616
Titre abrégé: J Drugs Dermatol
Pays: United States
ID NLM: 101160020
Informations de publication
Date de publication:
01 May 2021
01 May 2021
Historique:
entrez:
3
5
2021
pubmed:
4
5
2021
medline:
20
7
2021
Statut:
ppublish
Résumé
Basal cell carcinoma (BCC) is the most common malignancy worldwide. While most BCCs are treated surgically, advanced BCCs are often treated with gene-targeted therapies. While there has been a lot of research in BCC from Caucasian patients, research is lacking in patients with skin of color. To identify potential variations in BCC gene mutations between Asian, Hispanic, and Caucasian patients. A cohort study was performed from 2015 to 2017 with 23 patients treated for BCC at an urban academic hospital. Gene mutations were assessed using a targeted mutation panel for 76 cancer-associated genes from formalin-fixed paraffin-embedded (FFPE) samples. Groups studied comprised Asian (n=5), Hispanic (n=10), and Caucasian (n=8) patients. The Hispanic cohort had the highest number of mutations per patient on average (3.4 versus 2.8 for both Caucasian and Asian cohorts). GATA3 mutations were more prevalent in Hispanic patients (P=0.02, single factor ANOVA). ARID1A and PTEN mutations co-occurred in the Hispanic cohort (P<0.05). The most common mutation in the Asian cohort was TP53 (2/5). The Caucasian cohort had the highest percent of UVB mutations (68.4%). This study shows potential differences in the prevalence of somatic gene mutations for BCC patients of different races and ethnicities, which could inform the underlying pathogenesis, impact the efficacy of therapies in specific populations, and may also help identify novel therapeutic targets. J Drugs Dermatol. 20(5): doi:10.36849/JDD.5884.
Sections du résumé
BACKGROUND
BACKGROUND
Basal cell carcinoma (BCC) is the most common malignancy worldwide. While most BCCs are treated surgically, advanced BCCs are often treated with gene-targeted therapies. While there has been a lot of research in BCC from Caucasian patients, research is lacking in patients with skin of color.
OBJECTIVE
OBJECTIVE
To identify potential variations in BCC gene mutations between Asian, Hispanic, and Caucasian patients.
METHODS
METHODS
A cohort study was performed from 2015 to 2017 with 23 patients treated for BCC at an urban academic hospital. Gene mutations were assessed using a targeted mutation panel for 76 cancer-associated genes from formalin-fixed paraffin-embedded (FFPE) samples.
RESULTS
RESULTS
Groups studied comprised Asian (n=5), Hispanic (n=10), and Caucasian (n=8) patients. The Hispanic cohort had the highest number of mutations per patient on average (3.4 versus 2.8 for both Caucasian and Asian cohorts). GATA3 mutations were more prevalent in Hispanic patients (P=0.02, single factor ANOVA). ARID1A and PTEN mutations co-occurred in the Hispanic cohort (P<0.05). The most common mutation in the Asian cohort was TP53 (2/5). The Caucasian cohort had the highest percent of UVB mutations (68.4%).
CONCLUSIONS
CONCLUSIONS
This study shows potential differences in the prevalence of somatic gene mutations for BCC patients of different races and ethnicities, which could inform the underlying pathogenesis, impact the efficacy of therapies in specific populations, and may also help identify novel therapeutic targets. J Drugs Dermatol. 20(5): doi:10.36849/JDD.5884.
Identifiants
pubmed: 33938707
pii: S1545961621P0504X
doi: 10.36849/JDD.5884
doi:
Substances chimiques
Biomarkers, Tumor
0
Types de publication
Comparative Study
Journal Article
Observational Study
Langues
eng
Sous-ensembles de citation
IM