Next-generation sequencing study on poorly differentiated carcinoma derived from a thirty-year-old epidermoid cyst: A case report

Woosuk Choi; Joseph Kyu-Hyung Park; Seung Geun Song; Baek-Kyu Kim

doi:10.3389/fonc.2023.1017624

Next-generation sequencing study on poorly differentiated carcinoma derived from a thirty-year-old epidermoid cyst: A case report

Front Oncol. 2023 Apr 3:13:1017624. doi: 10.3389/fonc.2023.1017624. eCollection 2023.

Authors

Woosuk Choi¹, Joseph Kyu-Hyung Park¹, Seung Geun Song², Baek-Kyu Kim¹

Affiliations

¹ Department of Plastic and Reconstructive Surgery, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seoul, Republic of Korea.
² Department of Pathology, Seoul National University College of Medicine, Seoul, Republic of Korea.

Abstract

Although epidermoid cysts are frequently seen as benign lesions, they are highly uncommon to develop into cancerous lesions. A 36-year-old man with a cystic mass present on his left flank since childhood presented to our department. Based on the patient's medical history and abdominal computed tomography scan, we excised the lesion under the suspicion of an epidermoid cyst. Histopathological evaluation revealed the presence of poorly differentiated carcinoma with squamoid and basaloid differentiation, which showed a strong possibility of carcinoma arising from an epidermal cyst. Next-generation sequencing using TruSight oncology 500 assay showed copy number variation of ATM and CHEK1 genes.

Keywords: DNA copy number variation; epidermoid cyst; malignant transformation; next-generation sequencing; squamous epithelium.

Publication types

Case Reports