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女性生殖器官及其他部位遗传性疾病的影像学诊断方法。

Imaging approaches for the diagnosis of genetic diseases affecting the female reproductive organs and beyond.

机构信息

Department of Diagnostic and Interventional Radiology, University of Tsukuba Hospital, 2-1-1 Amakubo, Tsukuba, Ibaraki, 305-8576, Japan.

Departments of Radiology, Institute of Medicine, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki, 305-8575, Japan.

出版信息

Abdom Radiol (NY). 2024 May;49(5):1664-1676. doi: 10.1007/s00261-024-04260-5. Epub 2024 Mar 28.

Abstract

This review aims to provide an overview of neoplastic lesions associated with genetic diseases affecting the female reproductive organs. It seeks to enhance our understanding of the radiological aspects in diagnosing genetic diseases including hereditary breast and ovarian cancer syndromes, Lynch syndrome, Peutz-Jeghers syndrome, nevoid basal cell carcinoma syndrome, and Swyer syndrome, and explores the patterns and mechanisms of inheritance that require elucidation. Additionally, we discuss the imaging characteristics of lesions occurring in other regions due to the same genetic diseases.

摘要

这篇综述旨在概述与影响女性生殖器官的遗传疾病相关的肿瘤性病变。它旨在增强我们对遗传性乳腺癌和卵巢癌综合征、林奇综合征、Peutz-Jeghers 综合征、基底细胞痣综合征和 Swyer 综合征等遗传疾病诊断中的放射学方面的理解,并探讨需要阐明的遗传模式和机制。此外,我们还讨论了由于相同遗传疾病而在其他区域发生的病变的影像学特征。

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