Inherited Basaloid Neoplasms Associated With SUFU Pathogenic Variants

作者：James Abbott, Angela J. Jiang, Rama Godse, Sarah Ahmed, Stephen C. Senft, Melissa Wilson, Justine V. Cohen, Tara C. Mitchell, Temitayo Ogunleye, H. William Higgins, Thuzar M. Shin, Christopher J. Miller, Jacquelyn J. Roth, Salvatore F. Priore, Leslie Castelo‐Soccio, Rosalie Elenitsas, John T. Seykora, Katherine L. Nathanson, Emily Y. Chu · 发表于：JAMA Dermatology · 年份：2024 · DOI：10.1001/jamadermatol.2024.3315 · 被引用次数：5 · 研究领域：Hedgehog Signaling Pathway Studies、Oral and Maxillofacial Pathology、Salivary Gland Tumors Diagnosis and Treatment

Importance: Germline SUFU pathogenic variants (PVs) have previously been associated with basal cell nevus syndrome (BCNS) and multiple infundibulocystic basal cell carcinoma syndrome; however, a broader spectrum of cutaneous findings in patients with SUFU PVs has not been well delineated. Objective: To define the clinical and histopathologic spectrum of cutaneous findings in patients with germline SUFU PVs. Design, Setting, and Participants: This case series was conducted in multiple US academic dermatology, medical genetics, and medical oncology clinics between July 2014 and July 2022. The study included patients with confirmed germline SUFU PVs who were evaluated by a dermatologist. The analysis took place from March to September 2023. Main Outcomes and Measures: Histopathologic evaluation of skin biopsies with or without immunohistochemical staining, and targeted next-generation sequencing (NGS) on tumor specimens. Results: All 5 patients were women. The mean (range) age at presentation was 50.2 (31-68) years, with skin manifestations initially appearing in the fourth to sixth decades of life. None had keratocystic odontogenic tumors. A total of 29 skin pathology specimens from the 5 patients were reviewed; of these, 3 (10.3%) were diagnosed as basaloid follicular hamartomas (BFHs), 10 (34.5%) classified as infundibulocystic basal cell carcinomas (iBCCs), 6 (20.7%) classified as nodular basal cell carcinomas (nBCCs), and 1 (3.4%) as infiltrative basal cell carcinoma (BCC)....