Concurrent isolated retroperitoneal HGSC and STIC defined by somatic mutation analysis: a case report

Concurrent isolated retroperitoneal HGSC and STIC defined by somatic mutation analysis: a case report
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DOI:
10.1186/s13000-019-0795-3
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发表时间:
2019-02-11
影响因子:
2.6
通讯作者:
Enomoto, Takayuki
Enomoto, Takayuki
中科院分区:
医学4区
文献类型:
--
作者:
Suda, Kazuaki;Nakaoka, Hirofumi;Enomoto, Takayuki

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腹膜后高级别浆液性癌(HGSC)是一种非常罕见的肿瘤,其起源至今仍不清楚。我们报告一例腹膜后HGSC与浆液性输卵管上皮内癌(STIC)并存的病例,STIC被认为是卵巢HGSC的主要来源。我们回顾了现有的文献,并讨论了这种罕见diseases.Case presentationA 58岁的女性与93x65x62mm的实体瘤与囊性部分位于直肠背侧立即进行双侧输卵管卵巢切除术,全腹子宫切除术,整块切除腹膜后肿瘤连同直肠前下切除术。组织学诊断为右侧输卵管腹膜后HGSC和STIC。两个有害的体细胞突变TP53和BRCA2基因之间共享腹膜后HGSC和STIC.ConclusionsIn除了在以前的报告中的临床特征,我们的遗传学研究结果表明腹膜后HGSC的起源可能是STIC。
BackgroundRetroperitoneal 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 presentationA 58-year-old female with a 93x65x62mm-solid tumor with acystic 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.ConclusionsIn addition to clinical features in the previous reports, our genetic findings suggest the origin of retroperitoneal HGSC might be STIC.