经全外显子组测序鉴定的鼻腔前庭同步基底细胞癌和鳞状细胞癌伴新型独特变异。
Synchronous Basal Cell Carcinoma and Squamous Cell Carcinoma of Nasal Vestibule With Novel Unique Variants Identified by Whole-exome Sequencing.
机构信息
California Northstate University College of Medicine, Elk Grove, CA, U.S.A.
Department of Pathology, Immunology and Laboratory Medicine, University of Florida College of Medicine, Gainesville, FL, U.S.A.
出版信息
In Vivo. 2022 Jan-Feb;36(1):251-257. doi: 10.21873/invivo.12698.
BACKGROUND/AIM: It is estimated that nonmelanoma skin cancer (NMSC), including basal cell carcinoma (BCC) and squamous cell carcinoma (SCC), affects more than 3 million Americans each year. Translation of next-generation sequencing (NGS) data into identification of new potential targets for therapeutic applications may be helpful. Whole-exome sequencing (WES) is a widely used NGS method that involves sequencing the protein-coding regions of the genome.
CASE REPORT
We report a case of a 65-year-old female smoker who was found to have two 6 mm lesions in her left nasal vestibule. Biopsies demonstrated synchronous BCC and SCC. The patient underwent surgical excision of both cancers with safe margins followed by plastic reconstruction. WES was performed on both cancers and 16 alterations including BRCA2 (p.P389S), FAM5C (S420L), KMT2A (P855L), and SMO (L412F), as unique for BCC, and 4 alterations including TP53 (p.H179Q) and CDKN2A (p.P114L), as unique for SCC, were identified.
CONCLUSION
We report the first documented case with unique genetic alterations in two distinct and synchronous skin BCC and SCC arising from the same nasal vestibule of a patient. This adds to the growing field of data regarding genetic variants in characterizing malignancies and potentially for targeted therapies.
背景/目的：据估计，每年有超过 300 万美国人患有非黑色素瘤皮肤癌（NMSC），包括基底细胞癌（BCC）和鳞状细胞癌（SCC）。将下一代测序（NGS）数据转化为鉴定治疗应用新的潜在靶点可能会有所帮助。全外显子组测序（WES）是一种广泛使用的 NGS 方法，涉及对基因组的蛋白编码区域进行测序。
病例报告
我们报告了一例 65 岁女性吸烟者的病例，她的左鼻前庭发现有两个 6 毫米的病变。活检显示同步 BCC 和 SCC。患者接受了两种癌症的手术切除，边缘安全，随后进行了整形重建。对两种癌症进行了 WES 检测，发现了 16 种改变，包括 BCC 特有的 BRCA2（p.P389S）、FAM5C（S420L）、KMT2A（P855L）和 SMO（L412F），以及 SCC 特有的 4 种改变，包括 TP53（p.H179Q）和 CDKN2A（p.P114L）。
结论
我们报告了首例患者同一鼻前庭内同时发生的两种不同且同步的皮肤 BCC 和 SCC 具有独特遗传改变的病例。这增加了关于恶性肿瘤特征和潜在靶向治疗中遗传变异数据的不断增长的领域。
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