Journal of the American Academy of Dermatology · 2025
Genomic and clinical characterization of anogenital basal cell carcinoma: A retrospective and prospective cohort study.
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Dousset Lea, Yurchenko Andrey A, Chanal Johan, Beylot-Barry Marie, Samimi Mahtab, Chabane Dounia, Aractingi Selim, Nassar Dany, Alkobtawi Mansour, Quereux Gaelle, Berard Frederic, Geffrier Constance, Plantier Francoise, Ly Sandra, Herms Florian, Jullie Marie-Laure, Jouary Thomas, Lamant Laurence, Battistella Maxime, Nikolaev Sergey I, Basset-Seguin Nicole
Аннотация
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.
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.