PDF(Pubmed)
Abstract：
Ovarian mature teratomas (OMTs) originate from post-meiotic germ cells. Malignant transformation occurs in approximately 1-2% of OMTs; however, sebaceous carcinoma arising from OMTs is rare. This is the first report of a detailed genomic analysis of sebaceous carcinoma arising from an OMT. A 36-year-old woman underwent evaluation for abdominal tumors and subsequent hysterectomy and salpingo-oophorectomy. Pathologically, a diagnosis of stage IA sebaceous carcinoma arising from an OMT was established. Eight months post-surgery, the patient was alive without recurrence. Immunohistochemically, the tumor was negative for mismatch repair proteins. A nonsense mutation in TP53 (p.R306*) and a deletion in PIK3R1 were identified. Single nucleotide polymorphisms across all chromosomes displayed a high degree of homozygosity, suggestive of uniparental disomy. Herein, the OMT resulting from the endoreduplication of oocytes underwent a malignant transformation to sebaceous carcinoma via TP53 as an early event and PIK3R1 as a late event.
摘要：
卵巢成熟畸胎瘤（OMT）起源于减数分裂后的生殖细胞。恶性转化发生在大约1-2%的OMT中；然而，由OMTs引起的皮脂腺癌很少见。这是OMT引起的皮脂腺癌的详细基因组分析的第一份报告。一名36岁的妇女接受了腹部肿瘤的评估，随后进行了子宫切除术和输卵管卵巢切除术。病理上,建立了由OMT引起的IA期皮脂腺癌的诊断。手术后八个月,患者还活着，没有复发。免疫组织化学，肿瘤的错配修复蛋白阴性.TP53中的无义突变（p。鉴定了R306*）和PIK3R1中的缺失。在所有染色体上的单核苷酸多态性表现出高度的纯合性，暗示单亲偏见。在这里，卵母细胞内复制导致的OMT通过TP53作为早期事件,PIK3R1作为晚期事件,向皮脂腺癌恶性转化.
