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Updated: Sep 10, 2025
Cell Population Analyses During Skin Carcinogenesis
Published on: August 21, 2013
Genomic and clinical characterization of anogenital basal cell carcinoma: A retrospective and prospective cohort
Lea Dousset1, Andrey A Yurchenko2, Johan Chanal3
1Dermatology Department, Saint André Hospital, Bordeaux University Hospital, Bordeaux, France; BRIC (BoRdeaux Institute of onCology), UMR1312, INSERM, University of Bordeaux, Bordeaux, France.
Background:
Anogenital basal cell carcinoma (BCC) is a rare and poorly understood subtype occurring in sun-protected areas.
Objective:
To investigate the clinicopathological and genomic characteristics of anogenital BCC.
Methods:
Patients with anogenital BCC diagnosed between 2006 and 2024 were included from a nationwide retrospective-prospective cohort. Clinicopathological features were assessed, and whole-genome or whole-exome sequencing was performed for genomic analysis.
Results:
Among 50 patients (40 female, 10 male), the vulva was the most frequently affected site in women, whereas the perianal region prevailed in men. 3 patients had prior pelvic radiotherapy. Nodular (n = 23, 46%) and infiltrative subtypes (n = 22, 45%) predominated, with 18% of vulvar BCCs developing on lichen sclerosus. Most cases (n = 42, 84%) underwent surgical removal alone; 3 (6%) received neoadjuvant hedgehog inhibitors. Recurrence occurred in 15% of treated cases (median follow-up: 7 years). Genomic analyses (n = 12) revealed low tumor mutational burden (3.4 mutations/Mb), no UV mutational signatures, frequent PTCH1 mutations (75%), and activation of the sonic hedgehog pathway.
Limitations:
Small sample size and retrospective design.
Conclusion:
Anogenital BCCs exhibit distinct clinicopathological and genomic features, including higher recurrence rates, UV-independence, and sonic hedgehog pathway activation, requiring adapted diagnostic and treatment strategies.
