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支持细胞-间质细胞瘤与突变:一例病例报告及文献综述

Sertoli-Leydig Cell Tumour and Mutation: A Case Report and Review of the Literature.

作者信息

Wormald B, Elorbany S, Hanson H, Williams J W, Heenan S, Barton D P J

机构信息

St George's Hospital, UK.

St George's Hospital and the Royal Marsden Hospital, UK.

出版信息

Case Rep Obstet Gynecol. 2018 Sep 25;2018:7927362. doi: 10.1155/2018/7927362. eCollection 2018.

Abstract

Sertoli-Leydig cell tumours of the ovary (SLCT) are rare tumours predominantly caused by mutations in the gene. We present a patient with a unilateral SLCT who had an underlying germline gene mutation. We discuss the underlying pathology, risks, and screening opportunities available to those with a mutation in this gene as SLCT is only one of a multitude of other tumours encompassing syndrome. The condition is inherited in an autosomal dominant fashion. As such, genetic counselling is a key component of the management of women with SLCT.

摘要

卵巢支持-间质细胞瘤(SLCT)是罕见肿瘤,主要由 基因的突变引起。我们报告了一名患有单侧 SLCT 的患者,其存在潜在的胚系 基因突变。我们讨论了该基因突变患者的潜在病理、风险和筛查机会,因为 SLCT 只是包含 综合征的众多其他肿瘤之一。该疾病以常染色体显性方式遗传。因此,遗传咨询是 SLCT 女性患者管理的关键组成部分。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/64bd/6176314/88de03595218/CRIOG2018-7927362.001.jpg

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