Preoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature review
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...
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| Format: | Article |
| Language: | English |
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BMC
2024-02-01
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| Series: | Hereditary Cancer in Clinical Practice |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13053-024-00275-7 |
| _version_ | 1797273033412444160 |
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| author | Liwen Yang Duan Duan Ying Xiong Tianjiao Liu Lijun Zhao Fan Lai Dingxian Gu Liuying Zhou |
| author_facet | Liwen Yang Duan Duan Ying Xiong Tianjiao Liu Lijun Zhao Fan Lai Dingxian Gu Liuying Zhou |
| author_sort | Liwen Yang |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-07T14:37:45Z |
| format | Article |
| id | doaj.art-609e081ab3ab49c1892834139c2a7141 |
| institution | Directory Open Access Journal |
| issn | 1897-4287 |
| language | English |
| last_indexed | 2024-03-07T14:37:45Z |
| publishDate | 2024-02-01 |
| publisher | BMC |
| record_format | Article |
| series | Hereditary Cancer in Clinical Practice |
| spelling | doaj.art-609e081ab3ab49c1892834139c2a71412024-03-05T20:32:09ZengBMCHereditary Cancer in Clinical Practice1897-42872024-02-0122111310.1186/s13053-024-00275-7Preoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature reviewLiwen Yang0Duan Duan1Ying Xiong2Tianjiao Liu3Lijun Zhao4Fan Lai5Dingxian Gu6Liuying Zhou7Department of Ultrasonography, School of Medicine, Chengdu Women’s and Children’s Central Hospital, University of Electronic Science and TechnologyDepartment of Gynecology, School of Medicine, Chengdu Women’s and Children’s Central Hospital, University of Electronic Science and TechnologyDepartment of Gynecology, School of Medicine, Chengdu Women’s and Children’s Central Hospital, University of Electronic Science and TechnologyDepartment of Gynecology, School of Medicine, Chengdu Women’s and Children’s Central Hospital, University of Electronic Science and TechnologyDepartment of Ultrasonography, School of Medicine, Chengdu Women’s and Children’s Central Hospital, University of Electronic Science and TechnologyDepartment of Obstetrics, School of Medicine, Chengdu Women’s and Children’s Central Hospital, University of Electronic Science and TechnologyDepartment of Gynecology, School of Medicine, Chengdu Women’s and Children’s Central Hospital, University of Electronic Science and TechnologyDepartment of Ultrasonography, School of Medicine, Chengdu Women’s and Children’s Central Hospital, University of Electronic Science and TechnologyAbstract 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.https://doi.org/10.1186/s13053-024-00275-7Peutz-Jeghers syndromeMultimodal ultrasonographyAtypical lobular endocervical glandular hyperplasiaGastric-type endocervical adenocarcinomaContrast-enhanced ultrasonographyThree-dimensional ultrasonography |
| spellingShingle | Liwen Yang Duan Duan Ying Xiong Tianjiao Liu Lijun Zhao Fan Lai Dingxian Gu Liuying Zhou Preoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature review Hereditary Cancer in Clinical Practice Peutz-Jeghers syndrome Multimodal ultrasonography Atypical lobular endocervical glandular hyperplasia Gastric-type endocervical adenocarcinoma Contrast-enhanced ultrasonography Three-dimensional ultrasonography |
| title | Preoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature review |
| title_full | Preoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature review |
| title_fullStr | Preoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature review |
| title_full_unstemmed | Preoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature review |
| title_short | Preoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature review |
| title_sort | preoperative multimodal ultrasonic imaging in a case of peutz jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia a case report and literature review |
| topic | Peutz-Jeghers syndrome Multimodal ultrasonography Atypical lobular endocervical glandular hyperplasia Gastric-type endocervical adenocarcinoma Contrast-enhanced ultrasonography Three-dimensional ultrasonography |
| url | https://doi.org/10.1186/s13053-024-00275-7 |
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