关键词: DNA copy number variation epidermoid cyst malignant transformation next-generation sequencing squamous epithelium

来  源:   DOI:10.3389/fonc.2023.1017624   PDF(Pubmed)

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.
摘要:
尽管表皮样囊肿常被视为良性病变,它们很少发展成癌性病变。一名36岁的男子,从小就出现在他的左翼囊性肿块,他被送到了我们的部门。根据病人的病史和腹部计算机断层扫描,我们在怀疑表皮样囊肿的情况下切除了病灶。组织病理学评估显示存在低分化癌,伴有鳞片状和基底细胞样分化,这表明表皮囊肿引起癌症的可能性很大。使用TruSight肿瘤学500测定的下一代测序显示ATM和CHEK1基因的拷贝数变异。
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