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童 琴. [Current research status of Peutz-Jeghers syndrome in children]. ZHONGGUO DANG DAI ER KE ZA ZHI = CHINESE JOURNAL OF CONTEMPORARY PEDIATRICS 2024; 26:1122-1126. [PMID: 39467684 PMCID: PMC11527405 DOI: 10.7499/j.issn.1008-8830.2404054] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Subscribe] [Scholar Register] [Received: 04/10/2024] [Accepted: 06/13/2024] [Indexed: 10/30/2024]
Abstract
Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic disorder characterized by mucocutaneous pigmentation and multiple hamartomatous polyps, which leads to an increased susceptibility to tumors. The clinical incidence is rare, and the only currently identified pathogenic gene is the serine/threonine kinase 11/liver kinase B1 (STK11/LKB1) located on the short arm of chromosome 19 (19p13.3). This condition can lead to various complications, such as gastrointestinal bleeding, intussusception, intestinal obstruction, and malignancy. In childhood, the greatest risk is associated with intussusception, which increases the risk of surgical intervention and significantly impacts the growth, development, and quality of life of the children. This article provides an overview of the current research status regarding the clinical characteristics, etiology, pathogenesis, diagnosis, and treatment of PJS in children.
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Yano T, Yamamoto H. Endoscopic Diagnosis of Small Bowel Tumor. Cancers (Basel) 2024; 16:1704. [PMID: 38730658 PMCID: PMC11083951 DOI: 10.3390/cancers16091704] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/25/2024] [Revised: 04/22/2024] [Accepted: 04/24/2024] [Indexed: 05/13/2024] Open
Abstract
Recent technological advances, including capsule endoscopy (CE) and balloon-assisted endoscopy (BAE), have revealed that small intestinal disease is more common than previously thought. CE has advantages, including a high diagnostic yield, discomfort-free, outpatient basis, and physiological images. BAE enabled endoscopic diagnosis and treatment in the deep small bowel. Computed tomography (CT) enterography with negative oral contrast can evaluate masses, wall thickening, and narrowing of the small intestine. In addition, enhanced CT can detect abnormalities outside the gastrointestinal tract that endoscopy cannot evaluate. Each modality has its advantages and disadvantages, and a good combination of multiple modalities leads to an accurate diagnosis. As a first-line modality, three-phase enhanced CT is preferred. If CT shows a mass, stenosis, or wall thickening, a BAE should be selected. If there are no abnormal findings on CT and no obstructive symptoms, CE should be selected. If there are significant findings in the CE, determine the indication for BAE and its insertion route based on these findings. Early diagnosis of small intestinal tumors is essential for favorable outcomes. For early diagnosis, the possibility of small bowel lesions should be considered in patients with unexplained symptoms and signs after examination of the upper and lower gastrointestinal tract.
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Affiliation(s)
| | - Hironori Yamamoto
- Department of Medicine, Division of Gastroenterology, Jichi Medical University, Shimotsuke 329-0498, Japan;
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Shah ZA, Zeb M, Ilyas M, Hamid H, Fatima K, Batool M, Abbas M. Peutz-Jeghers syndrome with polyps in the stomach, duodenum, and small and large intestine: a case report. J Med Case Rep 2024; 18:86. [PMID: 38438911 PMCID: PMC10913253 DOI: 10.1186/s13256-023-04335-9] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/17/2023] [Accepted: 12/22/2023] [Indexed: 03/06/2024] Open
Abstract
BACKGROUND Peutz-Jeghers syndrome is a rare hereditary condition characterized by gastrointestinal polyps and pigmented oral lesions. The case contributes to a deeper understanding of Peutz-Jeghers syndrome and underscores the significance of interdisciplinary collaboration for accurate diagnosis and tailored therapeutic strategies. CASE DESCRIPTION We present a case of a 15-year-old Afghan female patient with multiple polyps throughout the gastrointestinal tract and mucocutaneous pigmentation. Despite previous medical visits and colonoscopies, her symptoms persisted. A multidisciplinary team discussed the case and recommended further investigations and interventions. A polypectomy was performed, confirming the presence of hamartomatous polyps. The patient was diagnosed with Peutz-Jeghers syndrome, but during the course of treatment she went through complications and was managed surgically as well. CONCLUSION Timely polyp removal and lifelong surveillance are crucial in managing Peutz-Jeghers syndrome. Further research and genetic analysis are needed to improve understanding and management of this rare disorder.
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Affiliation(s)
| | - Muhammad Zeb
- General Surgery, Hayatabad Medical Complex, Peshawar, Pakistan.
| | | | - Hasnain Hamid
- Hayatabad Medical Complex Peshawar, Peshawar, Pakistan
| | - Komal Fatima
- Hayatabad Medical Complex Peshawar, Peshawar, Pakistan
| | - Maria Batool
- Hayatabad Medical Complex Peshawar, Peshawar, Pakistan
| | - Muhammad Abbas
- General Surgery, Hayatabad Medical Complex, Peshawar, Pakistan
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Yang L, Duan D, Xiong Y, Liu T, Zhao L, Lai F, Gu D, Zhou L. 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; 22:3. [PMID: 38419118 PMCID: PMC10900695 DOI: 10.1186/s13053-024-00275-7] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/03/2023] [Accepted: 02/13/2024] [Indexed: 03/02/2024] Open
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.
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Affiliation(s)
- Liwen Yang
- 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
| | - Duan Duan
- Department of Gynecology, School of Medicine, Chengdu Women's and Children's Central Hospital, University of Electronic Science and Technology, Chengdu, China
| | - Ying Xiong
- Department of Gynecology, School of Medicine, Chengdu Women's and Children's Central Hospital, University of Electronic Science and Technology, Chengdu, China
| | - Tianjiao Liu
- Department of Gynecology, School of Medicine, Chengdu Women's and Children's Central Hospital, University of Electronic Science and Technology, Chengdu, China
| | - Lijun Zhao
- 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
| | - Fan Lai
- Department of Obstetrics, School of Medicine, Chengdu Women's and Children's Central Hospital, University of Electronic Science and Technology, Chengdu, China
| | - Dingxian Gu
- Department of Gynecology, School of Medicine, Chengdu Women's and Children's Central Hospital, University of Electronic Science and Technology, Chengdu, China
| | - Liuying Zhou
- 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.
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Zhou A, Tang B, Xie Y, Li S, Xiao X, Wu L, Tu D, Wang S, Feng Y, Feng X, Lai Y, Ning S, Yang S. Changes of gut microbiota and short chain fatty acids in patients with Peutz-Jeghers syndrome. BMC Microbiol 2023; 23:373. [PMID: 38036954 PMCID: PMC10688050 DOI: 10.1186/s12866-023-03132-0] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/01/2023] [Accepted: 11/21/2023] [Indexed: 12/02/2023] Open
Abstract
Peutz-Jeghers Syndromeis a rare autosomal dominant genetic disease characterized by gastrointestinal hamartomatous polyps and skin and mucous membrane pigmentation. The pathogenesis of PJS remains unclear; however, it may be associated with mutations in the STK11 gene, and there is currently no effective treatment available. The gut microbiota plays an important role in maintaining intestinal homeostasis in the human body, and an increasing number of studies have reported a relationship between gut microbiota and human health and disease. However, relatively few studies have been conducted on the gut microbiota characteristics of patients with PJS. In this study, we analyzed the characteristics of the gut microbiota of 79 patients with PJS using 16 S sequencing and measured the levels of short-chain fatty acids in the intestines. The results showed dysbiosis in the gut microbiota of patients with PJS, and decreased synthesis of short-chain fatty acids. Bacteroides was positively correlated with maximum polyp length, while Agathobacter was negatively correlated with age of onset. In addition, acetic acid, propionic acid, and butyric acid were positively correlated with the age of onset but negatively correlated with the number of polyps. Furthermore, the butyric acid level was negatively correlated with the frequency of endoscopic surgeries. In contrast, we compared the gut microbiota of STK11-positive and STK11-negative patients with PJS for the first time, but 16 S sequencing analysis revealed no significant differences. Finally, we established a random forest prediction model based on the gut microbiota characteristics of patients to provide a basis for the targeted diagnosis and treatment of PJS in the future.
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Affiliation(s)
- An Zhou
- Department of Gastroenterology, Second Affiliated Hospital, Army Medical University, Chongqing, 400037, China
| | - Bo Tang
- Department of Gastroenterology, Second Affiliated Hospital, Army Medical University, Chongqing, 400037, China
| | - Yuhong Xie
- Department of Gastroenterology, Air Force Medical Center, Beijing, 100142, China
| | - Shengpeng Li
- Department of Gastroenterology, Second Affiliated Hospital, Army Medical University, Chongqing, 400037, China
| | - Xu Xiao
- Department of Gastroenterology, Second Affiliated Hospital, Army Medical University, Chongqing, 400037, China
| | - Lingyi Wu
- Department of Gastroenterology, Second Affiliated Hospital, Army Medical University, Chongqing, 400037, China
| | - Dianji Tu
- Department of Gastroenterology, Second Affiliated Hospital, Army Medical University, Chongqing, 400037, China
| | - Sumin Wang
- Department of Gastroenterology, Second Affiliated Hospital, Army Medical University, Chongqing, 400037, China
| | - Yunxuan Feng
- Department of Gastroenterology, Second Affiliated Hospital, Army Medical University, Chongqing, 400037, China
| | - Xiaojie Feng
- Department of Gastroenterology, Second Affiliated Hospital, Army Medical University, Chongqing, 400037, China
| | - Yi Lai
- Department of Gastroenterology, Second Affiliated Hospital, Army Medical University, Chongqing, 400037, China
| | - Shoubin Ning
- Department of Gastroenterology, Air Force Medical Center, Beijing, 100142, China.
| | - Shiming Yang
- Department of Gastroenterology, Second Affiliated Hospital, Army Medical University, Chongqing, 400037, China.
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Liu BL, Ward SC, Polydorides AD. Clinicopathologic comparison between sporadic and syndromic Peutz-Jeghers polyps. Hum Pathol 2023; 141:69-77. [PMID: 37776958 DOI: 10.1016/j.humpath.2023.09.008] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/04/2023] [Revised: 09/19/2023] [Accepted: 09/23/2023] [Indexed: 10/02/2023]
Abstract
Peutz-Jeghers polyps (PJPs) are hamartomatous polyps that may define patients with Peutz-Jeghers syndrome (PJS), a rare inherited polyposis syndrome with high cancer risk. However, the clinical significance of 1-2 sporadic PJPs (without other PJS stigmata) regarding malignant potential and identification of new PJS probands is still unclear. We identified 112 patients with 524 histologically confirmed PJPs and categorized them based on polyp number into syndromic (n = 38) if ≥3 PJPs or diagnosed PJS, solitary (1 PJP, n = 61), and intermediate (2 PJPs, n = 13). Clinicopathologic features, including presence of dysplasia in the polyp and development of neoplasia in the patient, were compared on a per-patient and per-polyp basis. Whereas patients with solitary and intermediate PJPs were not different from each other, patients with syndromic PJPs were, in multivariate analysis, younger (P = .001) and more likely to develop neoplasia (P = .02) over a 62.6-months median follow-up than patients with sporadic PJPs. On an individual polyp basis, syndromic PJPs were more likely, in multivariate analysis, to occur in the small intestine (P < .001), but less likely to harbor metaplasia (P = .03) or dysplasia (P = .001), than sporadic PJPs. Dysplasia and metaplasia were more likely in larger PJPs, by multivariate analysis (P = .007 and P < .001, respectively). These data suggest that strict criteria for PJS (including ≥3 PJPs), as currently used, stratify patients into distinct groups with significant differences in clinicopathologic parameters, particularly regarding risk of neoplasia. However, sporadic PJPs exhibit characteristics such as dysplasia and are thus important to recognize and diagnose but perhaps as heralding only a forme fruste PJS.
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Affiliation(s)
- Bella Lingjia Liu
- Department of Pathology, Molecular and Cell-Based Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA
| | - Stephen C Ward
- Department of Pathology, Molecular and Cell-Based Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA
| | - Alexandros D Polydorides
- Department of Pathology, Molecular and Cell-Based Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
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Xu Z, Gu G. Cancer Risk of Peutz-Jeghers Syndrome and Treatment Experience: A Chinese Medical Center. Clin Colon Rectal Surg 2023; 36:406-414. [PMID: 37795464 PMCID: PMC10547534 DOI: 10.1055/s-0043-1767704] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/06/2023]
Abstract
Peutz-Jeghers syndrome (PJS), also known as hereditary mucocutaneous pigmented gastrointestinal polyposis, is a clinically rare autosomal dominant genetic disease, which falls into the category of hereditary colorectal cancer. There are ∼7,000 new cases of PJS in China every year, and 170,000 PJS patients may survive for a long time in society. PJS polyps are characterized by an early age of onset, difficult diagnosis and treatment, and easy recurrence. With repeated growth, polyps can lead to serious complications such as intestinal obstruction, intussusception, gastrointestinal bleeding, and cancerization, which cause serious clinical problems. Due to repeated hospitalization and endoscopic follow-up, PJS patients and their families suffer from great physical and mental pain and economic burden. With the in-depth understanding of PJS and the development and popularization of endoscopic techniques in the past decade, an integrated treatment modality based on endoscopy plus surgery has gradually become the preferred treatment in most hospitals, which greatly improves the quality of life of PJS patients. However, there is still a lack of effective drug prevention and cure means. In this paper, the current clinical treatment means for PJS polyps were summarized by literature review combined with the treatment experience of our medical center, with a focus on their clinical diagnosis, treatment, and cancer risk.
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Affiliation(s)
- Zuxin Xu
- Fifth Clinical College of Anhui Medical University, Air Force Clinical College of Anhui Medical University, Beijing, China
- Department of General Surgery, Air Force Medical Center, Beijing, China
| | - Guoli Gu
- Department of General Surgery, Air Force Medical Center, Beijing, China
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Foda ZH, Dharwadkar P, Katona BW. Preventive strategies in familial and hereditary colorectal cancer. Best Pract Res Clin Gastroenterol 2023; 66:101840. [PMID: 37852714 DOI: 10.1016/j.bpg.2023.101840] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/14/2023] [Revised: 05/05/2023] [Accepted: 05/17/2023] [Indexed: 10/20/2023]
Abstract
Colorectal cancer is a leading cause of cancer-related deaths worldwide. While most cases are sporadic, a significant proportion of cases are associated with familial and hereditary syndromes. Individuals with a family history of colorectal cancer have an increased risk of developing the disease, and those with hereditary syndromes such as Lynch syndrome or familial adenomatous polyposis have a significantly higher risk. In these populations, preventive strategies are critical for reducing the incidence and mortality of colorectal cancer. This review provides an overview of current preventive strategies for individuals at increased risk of colorectal cancer due to familial or hereditary factors. The manuscript includes a discussion of risk assessment and genetic testing, highlighting the importance of identifying at-risk individuals and families. This review describes various preventive measures, including surveillance colonoscopy, chemoprevention, and prophylactic surgery, and their respective benefits and limitations. Together, this work highlights the importance of preventive strategies in familial and hereditary colorectal cancer.
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Affiliation(s)
- Zachariah H Foda
- The Sidney Kimmel Comprehensive Cancer Center and Department of Medicine, Division of Gastroenterology, Johns Hopkins University School of Medicine, Baltimore, MD, USA
| | - Pooja Dharwadkar
- Division of Gastroenterology, Department of Medicine, University of California, San Francisco, CA, USA
| | - Bryson W Katona
- Division of Gastroenterology and Hepatology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
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Jiang LX, Chen YR, Xu ZX, Zhang YH, Zhang Z, Yu PF, Dong ZW, Yang HR, Gu GL. Peutz-Jeghers syndrome without STK11 mutation may correlate with less severe clinical manifestations in Chinese patients. World J Gastroenterol 2023; 29:3302-3317. [PMID: 37377590 PMCID: PMC10292148 DOI: 10.3748/wjg.v29.i21.3302] [Citation(s) in RCA: 4] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/20/2023] [Revised: 04/06/2023] [Accepted: 05/04/2023] [Indexed: 06/01/2023] Open
Abstract
BACKGROUND Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic disease with skin mucosal pigment spots and gastrointestinal (GI) multiple hamartoma polyps as clinical characteristics. At present, it is considered that the germline mutation of STK11 gene is the genetic cause of PJS. However, not all PJS patients can be detected STK11 germline mutations. The specific clinical characteristics of these PJS patients without STK11 mutation is an interesting clinical question. Or, like wild type GI stromal tumor, whether these PJS without STK11 mutation are also called PJS is worth discussing. Therefore, we designed the study to understand the clinical characteristics of these PJS patients without STK11 mutation. AIM To investigates whether PJS patients with known STK11 mutations have a more severe spectrum of clinical phenotypes compared to those without. METHODS A total of 92 patients with PJS admitted to the Air Force Medical Center from 2010 to 2022 were randomly selected for study. Genomic DNA samples were extracted from peripheral blood samples, and pathogenic germline mutations of STK11 were detected by high-throughput next-generation gene sequencing. Clinical-pathologic manifestations of patients with and without STK11/LKB1 mutations were compared. RESULTS STK11 germline mutations were observed in 73 patients with PJS. Among 19 patients with no detectable STK11 mutations, six had no pathogenic germline mutations of other genes, while 13 had other genetic mutations. Compared with PJS patients with STK11 mutations, those without tended to be older at the age of initial treatment, age of first intussusception and age of initial surgery. They also had a lower number of total hospitalizations relating to intussusception or intestinal obstruction, and a lower load of small intestine polyps. CONCLUSION PJS patients without STK11 mutations might have less severe clinical-pathologic manifestations than those with.
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Affiliation(s)
- Li-Xin Jiang
- Air Force Clinical College of China Medical University, Beijing 100142, China
| | - Yu-Rui Chen
- Air Force Clinical College of China Medical University, Beijing 100142, China
| | - Zu-Xin Xu
- Fifth Clinical College (Air Force Clinical College) of Anhui Medical University, Beijing 100142, China
| | - Yu-Hui Zhang
- Department of General Surgery, Air Force Medical Center, Chinese People's Liberation Army, Fifth Clinical (Air Force Clinical College) of China Medical University, Beijing 100142, China
| | - Zhi Zhang
- Department of General Surgery, Air Force Medical Center, Chinese People's Liberation Army, Fifth Clinical (Air Force Clinical College) of China Medical University, Beijing 100142, China
| | - Peng-Fei Yu
- Department of General Surgery, Air Force Medical Center, Chinese People's Liberation Army, Fifth Clinical (Air Force Clinical College) of China Medical University, Beijing 100142, China
| | - Zhi-Wei Dong
- Department of General Surgery, Air Force Medical Center, Chinese People's Liberation Army, Fifth Clinical (Air Force Clinical College) of China Medical University, Beijing 100142, China
| | - Hai-Rui Yang
- Department of General Surgery, Air Force Medical Center, Chinese People's Liberation Army, Fifth Clinical (Air Force Clinical College) of China Medical University, Beijing 100142, China
| | - Guo-Li Gu
- Department of General Surgery, Air Force Medical Center, Chinese People's Liberation Army, Fifth Clinical (Air Force Clinical College) of China Medical University, Beijing 100142, China
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Xu ZX, Jiang LX, Chen YR, Zhang YH, Zhang Z, Yu PF, Dong ZW, Yang HR, Gu GL. Clinical features, diagnosis, and treatment of Peutz-Jeghers syndrome: Experience with 566 Chinese cases. World J Gastroenterol 2023; 29:1483-1493. [DOI: 10.3748/wjg.v29.i10.1483] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 03/10/2023] Open
Abstract
BACKGROUND Peutz-Jeghers syndrome (PJS) is a clinically rare disease with pigmented spots on the lips and mucous membranes and extremities, scattered gastrointestinal polyps, and susceptibility to tumors as clinical manifestations. Effective preventive and curative methods are still lacking. Here we summarize our experience with 566 Chinese patients with PJS from a Chinese medical center with regard to the clinical features, diagnosis, and treatment.
AIM To explore the clinical features, diagnosis, and treatment of PJS in a Chinese medical center.
METHODS The diagnosis and treatment information of 566 cases of PJS admitted to the Air Force Medical Center from January 1994 to October 2022 was summarized. A clinical database was established covering age, gender, ethnicity, family history, age at first treatment, time and sequence of appearance of mucocutaneous pigmentation, polyp distribution, quantity, and diameter, frequency of hospitalization, frequency of surgical operations, etc. The clinical data was retrospectively analyzed using SPSS 26.0 software, with P < 0.05 considered statistically significant.
RESULTS Of all the patients included, 55.3% were male and 44.7% were female. Median time to the appearance of mucocutaneous pigmentation was 2 years, and median time from the appearance of mucocutaneous pigmentation to the occurrence of abdominal symptoms was 10 years. The vast majority (92.2%) of patients underwent small bowel endoscopy and treatment, with 2.3% having serious complications. There was a statistically significant difference in the number of enteroscopies between patients with and without canceration (P = 0.004, Z = -2.882); 71.2% of patients underwent surgical operation, 75.6% of patients underwent surgical operation before the age of 35 years, and there was a statistically significant difference in the frequency of surgical operations between patients with and without cancer (P = 0.000, Z = -5.127). At 40 years of age, the cumulative risk of intussusception in PJS was approximately 72.0%, and at 50 years, the cumulative risk of intussusception in PJS was approximately 89.6%. At 50 years of age, the cumulative risk of cancer in PJS was approximately 49.3%, and at 60 years of age, the cumulative risk of cancer in PJS was approximately 71.7%.
CONCLUSION The risk of intussusception and cancer of PJS polyps increases with age. PJS patients ≥ 10 years old should undergo annual enteroscopy. Endoscopic treatment has a good safety profile and can reduce the occurrence of polyps intussusception and cancer. Surgery should be conducted to protect the gastrointestinal system by removing polyps.
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Affiliation(s)
- Zu-Xin Xu
- Fifth Clinical College of Anhui Medical University, Air Force Clinical College of Anhui Medical University, Beijing 100142, China
| | - Li-Xin Jiang
- Air Force Clinical College of China Medical University, Beijing 100142, China
| | - Yu-Rui Chen
- Air Force Clinical College of China Medical University, Beijing 100142, China
| | - Yu-Hui Zhang
- Department of General Surgery, Air Force Medical Center, Chinese People's Liberation Army, Beijing 100142, China
| | - Zhi Zhang
- Department of General Surgery, Air Force Medical Center, Chinese People's Liberation Army, Beijing 100142, China
| | - Peng-Fei Yu
- Department of General Surgery, Air Force Medical Center, Chinese People's Liberation Army, Beijing 100142, China
| | - Zhi-Wei Dong
- Department of General Surgery, Air Force Medical Center, Chinese People's Liberation Army, Beijing 100142, China
| | - Hai-Rui Yang
- Department of General Surgery, Air Force Medical Center, Chinese People's Liberation Army, Beijing 100142, China
| | - Guo-Li Gu
- Department of General Surgery, Air Force Medical Center, Chinese People's Liberation Army, Beijing 100142, China
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Xu ZX, Jiang LX, Chen YR, Zhang YH, Zhang Z, Yu PF, Dong ZW, Yang HR, Gu GL. Clinical features, diagnosis, and treatment of Peutz-Jeghers syndrome: Experience with 566 Chinese cases. World J Gastroenterol 2023; 29:1627-1637. [PMID: 36970589 PMCID: PMC10037245 DOI: 10.3748/wjg.v29.i10.1627] [Citation(s) in RCA: 8] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/12/2022] [Revised: 01/17/2023] [Accepted: 02/16/2023] [Indexed: 03/14/2023] Open
Abstract
BACKGROUND Peutz-Jeghers syndrome (PJS) is a clinically rare disease with pigmented spots on the lips and mucous membranes and extremities, scattered gastrointestinal polyps, and susceptibility to tumors as clinical manifestations. Effective preventive and curative methods are still lacking. Here we summarize our experience with 566 Chinese patients with PJS from a Chinese medical center with regard to the clinical features, diagnosis, and treatment. AIM To explore the clinical features, diagnosis, and treatment of PJS in a Chinese medical center. METHODS The diagnosis and treatment information of 566 cases of PJS admitted to the Air Force Medical Center from January 1994 to October 2022 was summarized. A clinical database was established covering age, gender, ethnicity, family history, age at first treatment, time and sequence of appearance of mucocutaneous pigmentation, polyp distribution, quantity, and diameter, frequency of hospitalization, frequency of surgical operations, etc. The clinical data was retrospectively analyzed using SPSS 26.0 software, with P < 0.05 considered statistically significant. RESULTS Of all the patients included, 55.3% were male and 44.7% were female. Median time to the appearance of mucocutaneous pigmentation was 2 years, and median time from the appearance of mucocutaneous pigmentation to the occurrence of abdominal symptoms was 10 years. The vast majority (92.2%) of patients underwent small bowel endoscopy and treatment, with 2.3% having serious complications. There was a statistically significant difference in the number of enteroscopies between patients with and without canceration (P = 0.004, Z = -2.882); 71.2% of patients underwent surgical operation, 75.6% of patients underwent surgical operation before the age of 35 years, and there was a statistically significant difference in the frequency of surgical operations between patients with and without cancer (P = 0.000, Z = -5.127). At 40 years of age, the cumulative risk of intussusception in PJS was approximately 72.0%, and at 50 years, the cumulative risk of intussusception in PJS was approximately 89.6%. At 50 years of age, the cumulative risk of cancer in PJS was approximately 49.3%, and at 60 years of age, the cumulative risk of cancer in PJS was approximately 71.7%. CONCLUSION The risk of intussusception and cancer of PJS polyps increases with age. PJS patients ≥ 10 years old should undergo annual enteroscopy. Endoscopic treatment has a good safety profile and can reduce the occurrence of polyps intussusception and cancer. Surgery should be conducted to protect the gastrointestinal system by removing polyps.
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Affiliation(s)
- Zu-Xin Xu
- Fifth Clinical College of Anhui Medical University, Air Force Clinical College of Anhui Medical University, Beijing 100142, China
| | - Li-Xin Jiang
- Air Force Clinical College of China Medical University, Beijing 100142, China
| | - Yu-Rui Chen
- Air Force Clinical College of China Medical University, Beijing 100142, China
| | - Yu-Hui Zhang
- Department of General Surgery, Air Force Medical Center, Chinese People's Liberation Army, Beijing 100142, China
| | - Zhi Zhang
- Department of General Surgery, Air Force Medical Center, Chinese People's Liberation Army, Beijing 100142, China
| | - Peng-Fei Yu
- Department of General Surgery, Air Force Medical Center, Chinese People's Liberation Army, Beijing 100142, China
| | - Zhi-Wei Dong
- Department of General Surgery, Air Force Medical Center, Chinese People's Liberation Army, Beijing 100142, China
| | - Hai-Rui Yang
- Department of General Surgery, Air Force Medical Center, Chinese People's Liberation Army, Beijing 100142, China
| | - Guo-Li Gu
- Department of General Surgery, Air Force Medical Center, Chinese People's Liberation Army, Beijing 100142, China
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