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

Liwen Yang; Duan Duan; Ying Xiong; Tianjiao Liu; Lijun Zhao; Fan Lai; Dingxian Gu; Liuying Zhou

doi:10.1186/s13053-024-00275-7

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

Hered Cancer Clin Pract. 2024 Feb 28;22(1):3. doi: 10.1186/s13053-024-00275-7.

Authors

Liwen Yang^#¹, Duan Duan^#², Ying Xiong^#², Tianjiao Liu^#², Lijun Zhao¹, Fan Lai³, Dingxian Gu², Liuying Zhou⁴

Affiliations

¹ Department of Ultrasonography, School of Medicine, Chengdu Women's and Children's Central Hospital, University of Electronic Science and Technology, No. 1617, Riyue Avenue, Chengdu, Sichuan, 610091, China.
² Department of Gynecology, School of Medicine, Chengdu Women's and Children's Central Hospital, University of Electronic Science and Technology, Chengdu, China.
³ Department of Obstetrics, School of Medicine, Chengdu Women's and Children's Central Hospital, University of Electronic Science and Technology, Chengdu, China.
⁴ Department of Ultrasonography, School of Medicine, Chengdu Women's and Children's Central Hospital, University of Electronic Science and Technology, No. 1617, Riyue Avenue, Chengdu, Sichuan, 610091, China. 18908098220@163.com.

^# Contributed equally.

Abstract
in English, Spanish

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.

We reported multimodal ultrasonographical characteristics of a case of Peutz-Jeghers syndrome-related gastric-type endocervical adenocarcinoma (G-EAC), indicating the potential use of multimodal ultrasonography for G-EAC diagnosis.

Keywords: Atypical lobular endocervical glandular hyperplasia; Contrast-enhanced ultrasonography; Gastric-type endocervical adenocarcinoma; Multimodal ultrasonography; Peutz-Jeghers syndrome; Three-dimensional ultrasonography.

Abstract in English, Spanish

Grants and funding

Abstract
in English, Spanish