通过体细胞突变分析定义的同时性孤立性腹膜后高级别浆液性癌和浆液性输卵管上皮内癌：一例报告
Concurrent isolated retroperitoneal HGSC and STIC defined by somatic mutation analysis: a case report.
作者信息
Suda Kazuaki, Nakaoka Hirofumi, Hata Chihiro, Yahata Natsumi, Isobe Masanori, Kameyama Hitoshi, Wakai Toshifumi, Motoyama Teiichi, Inoue Ituro, Yoshihara Kosuke, Enomoto Takayuki
机构信息
Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Niigata, 951-8510, Japan.
Department of Genetics, School of Life Sciences, Graduate University for Advanced Studies (SOKENDAI), Hayama, Japan.
出版信息
Diagn Pathol. 2019 Feb 11;14(1):17. doi: 10.1186/s13000-019-0795-3.
BACKGROUND
Retroperitoneal high-grade serous carcinoma (HGSC) is extremely rare and the origin remains unclear. We present a case of retroperitoneal HGSC and coexisting serous tubal intraepithelial carcinoma (STIC), which is considered as the main origin of ovarian HGSC. We reviewed the available literature and discussed about the origin of this rare disease.
CASE PRESENTATION
A 58-year-old female with a 93 × 65 × 62 mm-solid tumor with a cystic part was located immediately dorsal to the rectum underwent bilateral salpingo-oophorectomy, total abdominal hysterectomy, and en bloc resection of the retroperitoneal tumor together with lower anterior resection of the rectum. Histological diagnosis was retroperitoneal HGSC and STIC at the right fallopian tube. Two deleterious somatic mutations in TP53 and BRCA2 genes were shared between retroperitoneal HGSC and STIC.
CONCLUSIONS
In addition to clinical features in the previous reports, our genetic findings suggest the origin of retroperitoneal HGSC might be STIC.
背景
腹膜后高级别浆液性癌（HGSC）极为罕见，其起源尚不清楚。我们报告一例腹膜后HGSC合并浆液性输卵管上皮内癌（STIC）的病例，STIC被认为是卵巢HGSC的主要起源。我们回顾了现有文献并讨论了这种罕见疾病的起源。
病例介绍
一名58岁女性，直肠后方紧邻处有一个93×65×62mm的实性肿瘤，伴有囊性部分，接受了双侧输卵管卵巢切除术、全腹子宫切除术以及腹膜后肿瘤整块切除并同时进行直肠前下切除术。组织学诊断为腹膜后HGSC及右侧输卵管STIC。腹膜后HGSC和STIC之间共享TP53和BRCA2基因的两个有害体细胞突变。
结论
除了先前报告中的临床特征外，我们的基因研究结果表明腹膜后HGSC的起源可能是STIC。
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