Preoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature review.

IF 2 4区 医学 Q3 ONCOLOGY
Liwen Yang, Duan Duan, Ying Xiong, Tianjiao Liu, Lijun Zhao, Fan Lai, Dingxian Gu, Liuying Zhou
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引用次数: 0

Abstract

Background: Peutz-Jeghers syndrome (PJS), an autosomal dominant multiple cancerous disorder, is clinically characterized by mucocutaneous macules and multiple gastrointestinal hamartomatous polyps. Gastric-type endocervical adenocarcinoma (G-EAC), a special subtype of cervical adenocarcinoma with non-specific symptoms and signs, is known to occur in approximately 11% of female patients with PJS.

Case presentation: Here, we report a case of PJS in a 24-year-old female with multiple mucocutaneous black macules who complained of vaginal discharge and menorrhagia. Moreover, we first described the multimodal ultrasonographical manifestations of PJS-correlated G-EAC. The three-dimensional reconstructed view of G-EAC on 3D realisticVue exhibited a distinctive "cosmos pattern" resembling features on magnetic resonance imaging, and the contrast-enhanced ultrasound displayed a "quick-up and slow-down" pattern of the solid components inside the mixed cervical echoes. We reported the multimodal ultrasonographical characteristics of a case of PJS-related G-EAC, as well as reviewed PJS-related literature and medical imaging features and clinical characteristics of G-EAC to provide insight into the feasibility and potential of utilizing multimodal ultrasonography for the diagnosis of G-EAC.

Conclusions: Multimodal ultrasound can visualize morphological features, solid components inside, and blood supplies of the G-EAC lesion and distinguish the G-EAC lesion from normal adjacent tissues. This facilitates preoperative diagnosis and staging of PJS-related G-EAC, thereby aiding subsequent health and reproductive management for patients with PJS.

一例 Peutz-Jeghers 综合征并发非典型小叶宫颈内膜腺体增生的术前多模态超声成像:病例报告和文献综述。
背景:佩兹-杰格尔斯综合征(Peutz-Jeghers syndrome,PJS)是一种常染色体显性多发性癌症疾病,临床特征为粘膜斑丘疹和多发性胃肠道瘤样息肉。胃型宫颈内膜腺癌(G-EAC)是宫颈腺癌的一种特殊亚型,具有非特异性症状和体征,已知约有 11% 的 PJS 女性患者会出现这种症状和体征:在此,我们报告了一例 PJS 病例,患者是一名 24 岁女性,患有多发性粘膜黑色斑丘疹,主诉有阴道分泌物和月经过多。此外,我们首次描述了与 PJS 相关的 G-EAC 的多模态超声表现。G-EAC 在 3D realisticVue 上的三维重建视图显示了与磁共振成像特征相似的独特 "宇宙模式",对比增强超声显示了混合宫颈回声内部固体成分的 "快上慢下 "模式。我们报告了一例PJS相关G-EAC的多模态超声特征,并回顾了PJS相关文献和G-EAC的医学影像特征和临床特点,以深入了解利用多模态超声诊断G-EAC的可行性和潜力:结论:多模态超声可观察到G-EAC病变的形态特征、内部固体成分和血液供应,并将G-EAC病变与邻近正常组织区分开来。这有助于对与 PJS 相关的 G-EAC 进行术前诊断和分期,从而为 PJS 患者后续的健康和生殖管理提供帮助。
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来源期刊
CiteScore
3.10
自引率
5.90%
发文量
38
审稿时长
>12 weeks
期刊介绍: Hereditary Cancer in Clinical Practice is an open access journal that publishes articles of interest for the cancer genetics community and serves as a discussion forum for the development appropriate healthcare strategies. Cancer genetics encompasses a wide variety of disciplines and knowledge in the field is rapidly growing, especially as the amount of information linking genetic differences to inherited cancer predispositions continues expanding. With the increased knowledge of genetic variability and how this relates to cancer risk there is a growing demand not only to disseminate this information into clinical practice but also to enable competent debate concerning how such information is managed and what it implies for patient care. Topics covered by the journal include but are not limited to: Original research articles on any aspect of inherited predispositions to cancer. Reviews of inherited cancer predispositions. Application of molecular and cytogenetic analysis to clinical decision making. Clinical aspects of the management of hereditary cancers. Genetic counselling issues associated with cancer genetics. The role of registries in improving health care of patients with an inherited predisposition to cancer.
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