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BRCA 基因突变的高级别浆液性卵巢癌误诊为子宫内膜囊肿的独特大体形态:病例报告及文献复习。

Misdiagnosis of High-grade Serous Ovarian Cancer With BRCA Mutation as Endometriotic Cyst Due to Its Unique Gross Morphology: A Case Report and Literature Review.

出版信息

Int J Gynecol Pathol. 2021 Mar 1;40(2):165-168. doi: 10.1097/PGP.0000000000000663.

Abstract

It is believed that high-grade serous ovarian cancer (HGSOC) is a solid or multilocular-solid cancer. Here, we report the case of a 40-yr-old woman with a left ovarian unilocular cyst. Ultrasonography and computed tomographic examination confirmed that the cyst was thin-walled and homogenous in thickness without mural nodules. It was considered to be an endometriotic cyst. Left ovarian cyst excision specimens proved it to be HGSOC after pathologic examination. Therefore, the patient underwent radical surgery for HGSOC. Pathologic examination of radical resection specimens confirmed that the HGSOC was still in FIGO stage IA and no fallopian tube lesion was found. Considering that the patient had a history of breast cancer in both the breasts at a young age, it was hypothesized that the breast cancer susceptibility gene (BRCA) gene may have a germline mutation. Next-generation sequencing confirmed the BRCA1 (c.3770_3771delAG) germline mutation in this patient. Previous studies have reported the special morphological characteristics and growth pattern of HGSOC with BRCA mutation in the advanced stage. Our case demonstrates that HGSOC with the BRCA mutation can also be a unilocular cyst with a thin wall and uniform thickness without a mural nodule, and in the early stage, may have unique gross morphology.

摘要

人们认为高级别浆液性卵巢癌(HGSOC)是一种实性或多房实性肿瘤。在此,我们报告了一例 40 岁女性左侧卵巢单房性囊肿的病例。超声和计算机断层检查证实囊肿壁薄,厚度均匀,无壁结节。考虑为子宫内膜异位囊肿。左卵巢囊肿切除标本经病理检查证实为 HGSOC。因此,患者接受了 HGSOC 的根治性手术。根治性切除标本的病理检查证实 HGSOC 仍处于 FIGO 分期 IA 期,且未发现输卵管病变。鉴于该患者年轻时双侧乳房均患有乳腺癌,推测乳腺癌易感基因(BRCA)基因可能存在种系突变。下一代测序证实了该患者存在 BRCA1(c.3770_3771delAG)种系突变。先前的研究报道了 BRCA 突变的晚期 HGSOC 的特殊形态特征和生长模式。我们的病例表明,携带 BRCA 突变的 HGSOC 也可能是薄壁、均匀厚度且无壁结节的单房性囊肿,且在早期可能具有独特的大体形态。

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