Periocular Pigmented Basal Cell Carcinomas: Clinicopathologic Features and Mutational Profile

Abstract

Purpose: Pigmented basal cell carcinomas (PBCC) is an uncommon variant of basal cell carcinoma of the periocular region with limited information in the literature. We highlight the clinicopathological profile and somatic mutations in periocular PBCC. Methods: The clinicopathological features and somatic mutations in patients with periocular PBCC were examined and compared with periocular non-PBCC reported in the literature. Next-generation sequencing panel analysis for the excised tumors identified somatic mutations. Results: In a total of 31 patients, PBCC was common in females (54%; p = 0.03); as a unilateral lower eyelid (n = 22; 71%), solitary mass (n = 30; 98%). Pathologic subtypes were variable. Most were nodular or mixed variants (n = 23; 74%). During the follow up (2.5–4.5 years), 1 patient (3.5%) had a recurrence. The clinical and pathologic features of PBCC were similar to those reported in nonperiocular locations. Somatic mutations detected in 25/31 tumors. Variants in 50/161 genes in the panel were noted. PTCH1 (14/31), TERT (12/31), and SMO (7/31) variants were common. Fifteen patients had novel drivers, including POLE, FANCD2, and CREBBP. SMO mutations were significantly more common in females (7/7), lower eyelid (5/7), and TERT mutations were more common in nodular subtype (10/12). Conclusions: In this large cohort of a relatively uncommon variant of BCC, the clinicopathological features and tumor behavior of PBCC was similar to periocular non-PBCC. The somatic mutation spectrum of PBCC resembles that reported in nonperiocular cutaneous BCC with novel drivers identified. We identified several potential actionable mutations that could be targeted with molecular therapy.

The Efficacy of Sonidegib in Treating Locally Advanced Basal Cell Carcinoma Involving the Periocular Area

“…However, tumor size, tumor location, and patients’ comorbidities may limit this approach [ 5 – 7 ]. In particular, the periocular area has always represented a challenge in terms of the functional aspect and because of the difficulty of ensuring disease-free margins of excision, requiring new treatment strategies [ 3 ]. Recently, the introduction of Hhi therapy opened a new era of treatment for these forms of BCCs.…”

“…Globally, more than 75% of BCCs appear in the head and neck region, and about 20% of BCCs involve the periocular area [ 2 ]. When localized on the periocular region, the treatment of BCC may be very challenging because of its proximity to the intracranial structures [ 3 ]. Thus, early diagnosis and early treatment is mandatory for periocular BCCs both for functional and cosmetic outcomes [ 2 , 3 ].…”

“…When localized on the periocular region, the treatment of BCC may be very challenging because of its proximity to the intracranial structures [ 3 ]. Thus, early diagnosis and early treatment is mandatory for periocular BCCs both for functional and cosmetic outcomes [ 2 , 3 ]. Although surgical excision still represents the gold standard treatment for the majority of BCCs, a small subset are not eligible for surgery or radiotherapy because of their size or location [ 4 ].…”