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World Journal of Gastroenterology Mar 2023Peutz-Jeghers syndrome (PJS) is a clinically rare disease with pigmented spots on the lips and mucous membranes and extremities, scattered gastrointestinal polyps, and...
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, The clinical data was retrospectively analyzed using SPSS 26.0 software, with < 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 ( = 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 ( = 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.
Topics: Adult; Female; Humans; Male; Middle Aged; East Asian People; Endoscopy, Gastrointestinal; Intussusception; Peutz-Jeghers Syndrome; Polyps; Retrospective Studies
PubMed: 36970589
DOI: 10.3748/wjg.v29.i10.1627 -
Ear, Nose, & Throat Journal Sep 2022Peutz-Jeghers syndrome is an unusual inherited intestinal polyposis syndrome associated with distinct mucocutaneous pigmentation. Peutz-Jeghers syndrome is known to show...
Peutz-Jeghers syndrome is an unusual inherited intestinal polyposis syndrome associated with distinct mucocutaneous pigmentation. Peutz-Jeghers syndrome is known to show variable penetrance and clinical heterogeneity. It can involve various organs and lead to intestinal and extra-intestinal malignancies. Sinonasal inverted papilloma is a benign tumor originating from the nasal cavity and paranasal sinuses. It is characterized by high recurrence and malignant transformation; however, the exact pathogenesis and risk factors remain unclear. Recently, we encountered a case of sinonasal inverted papilloma in a patient with Peutz-Jeghers syndrome. Although we performed a molecular genetic study to evaluate the mutation, we could not provide direct evidence of the association between sinonasal inverted papilloma and Peutz-Jeghers syndrome. Based on our experience, we here tried to introduce Peutz-Jeghers syndrome and the potential involvement of the upper airway tract based on previously reported cases.
PubMed: 36121203
DOI: 10.1177/01455613221116325 -
Journal of Pharmacy & Bioallied Sciences Apr 2015Genodermatoses are an inherited disorder, present with multisystem involvement. Help us to identify regular mutations and appalling skin diseases with recessive... (Review)
Review
Genodermatoses are an inherited disorder, present with multisystem involvement. Help us to identify regular mutations and appalling skin diseases with recessive inheritance. Genetic heterogeneity is very common, and molecular diagnosis requires a broad effort. Recurrent mutations in unrelated families were seen in families with xeroderma, Griscelli. It seems likely that eventually oligonucleotide arrays will replace most other methods for routine mutation scanning of the more common diseases and planned sequencing will be increasingly used for rarer diseases.
PubMed: 26015711
DOI: 10.4103/0975-7406.155903 -
Clinics in Colon and Rectal Surgery Nov 2023Peutz-Jeghers syndrome (PJS), also known as hereditary mucocutaneous pigmented gastrointestinal polyposis, is a clinically rare autosomal dominant genetic disease, which... (Review)
Review
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.
PubMed: 37795464
DOI: 10.1055/s-0043-1767704 -
World Journal of Gastroenterology Nov 2009Peutz-Jeghers syndrome (PJS) is an inherited, autosomal dominant disorder distinguished by hamartomatous polyps in the gastrointestinal tract and pigmented mucocutaneous... (Review)
Review
Peutz-Jeghers syndrome (PJS) is an inherited, autosomal dominant disorder distinguished by hamartomatous polyps in the gastrointestinal tract and pigmented mucocutaneous lesions. Prevalence of PJS is estimated from 1 in 8300 to 1 in 280,000 individuals. PJS predisposes sufferers to various malignancies (gastrointestinal, pancreatic, lung, breast, uterine, ovarian and testicular tumors). Bleeding, obstruction and intussusception are common complications in patients with PJS. Double balloon enteroscopy (DBE) allows examination and treatment of the small bowel. Polypectomy using DBE may obviate the need for repeated urgent operations and small bowel resection that leads to short bowel syndrome. Prophylaxis and polypectomy of the entire small bowel is the gold standard in PJS patients. Intraoperative enteroscopy (IOE) was the only possibility for endoscopic treatment of patients with PJS before the DBE era. Both DBE and IOE facilitate exploration and treatment of the small intestine. DBE is less invasive and more convenient for the patient. Both procedures are generally safe and useful. An overall recommendation for PJS patients includes not only gastrointestinal multiple polyp resolution, but also regular lifelong cancer screening (colonoscopy, upper endoscopy, computed tomography, magnetic resonance imaging or ultrasound of the pancreas, chest X-ray, mammography and pelvic examination with ultrasound in women, and testicular examination in men). Although the incidence of PJS is low, it is important for clinicians to recognize these disorders to prevent morbidity and mortality in these patients, and to perform presymptomatic testing in the first-degree relatives of PJS patients.
Topics: Adolescent; Adult; Aged; Child; Endoscopy; Endoscopy, Gastrointestinal; Female; Gastroenterology; Hamartoma; Humans; Intestinal Neoplasms; Intestine, Small; Male; Middle Aged; Peutz-Jeghers Syndrome; Polyps
PubMed: 19916169
DOI: 10.3748/wjg.15.5397 -
Gut Mar 2020Heritable factors account for approximately 35% of colorectal cancer (CRC) risk, and almost 30% of the population in the UK have a family history of CRC. The...
Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG).
Heritable factors account for approximately 35% of colorectal cancer (CRC) risk, and almost 30% of the population in the UK have a family history of CRC. The quantification of an individual's lifetime risk of gastrointestinal cancer may incorporate clinical and molecular data, and depends on accurate phenotypic assessment and genetic diagnosis. In turn this may facilitate targeted risk-reducing interventions, including endoscopic surveillance, preventative surgery and chemoprophylaxis, which provide opportunities for cancer prevention. This guideline is an update from the 2010 British Society of Gastroenterology/Association of Coloproctology of Great Britain and Ireland (BSG/ACPGBI) guidelines for colorectal screening and surveillance in moderate and high-risk groups; however, this guideline is concerned specifically with people who have increased lifetime risk of CRC due to hereditary factors, including those with Lynch syndrome, polyposis or a family history of CRC. On this occasion we invited the UK Cancer Genetics Group (UKCGG), a subgroup within the British Society of Genetic Medicine (BSGM), as a partner to BSG and ACPGBI in the multidisciplinary guideline development process. We also invited external review through the Delphi process by members of the public as well as the steering committees of the European Hereditary Tumour Group (EHTG) and the European Society of Gastrointestinal Endoscopy (ESGE). A systematic review of 10 189 publications was undertaken to develop 67 evidence and expert opinion-based recommendations for the management of hereditary CRC risk. Ten research recommendations are also prioritised to inform clinical management of people at hereditary CRC risk.
Topics: Adenomatous Polyposis Coli; Colonoscopy; Colorectal Neoplasms; Colorectal Neoplasms, Hereditary Nonpolyposis; DNA Glycosylases; Family Health; Humans; Intestinal Polyposis; Ireland; Life Style; Neoplastic Syndromes, Hereditary; Peutz-Jeghers Syndrome; Population Surveillance; Referral and Consultation; Risk Factors; United Kingdom
PubMed: 31780574
DOI: 10.1136/gutjnl-2019-319915 -
Cellular and Molecular Life Sciences :... Sep 2006Peutz-Jeghers syndrome (PJS, OMIM 175200) is an unusual inherited intestinal polyposis syndrome associated with distinct peri-oral blue/black freckling. Variable... (Review)
Review
Peutz-Jeghers syndrome (PJS, OMIM 175200) is an unusual inherited intestinal polyposis syndrome associated with distinct peri-oral blue/black freckling. Variable penetrance and clinical heterogeneity make it difficult to determine the exact frequency of PJS. PJS is a cancer predisposition syndrome. Affected individuals are at high risk for intestinal and extra-intestinal cancers. In 1997, linkage studies mapped PJS to chromosome 19p, and subsequently a serine/threonine kinase gene defect (LKB1) was noted in a majority of PJS cases. A phenotypically similar syndrome has been produced in an LKB1 mouse knockout model. Several PJS kindred without LKB1 mutations have been described, suggesting other PJS loci. The management of PJS is complex and evolving. New endoscopic technologies may improve management of intestinal polyposis. Identification of specific genetic mutations and their targets will more accurately assess the clinical course, and help gage the magnitude of cancer risk for affected individuals.
Topics: Humans; Peutz-Jeghers Syndrome
PubMed: 16952058
DOI: 10.1007/s00018-006-6080-0 -
Arquivos de Gastroenterologia 2020Peutz-Jeghers Syndrome (PJS) is a rare, autosomal dominant disease, caused by deletions in the chromosome 19p33.3/ gene LKB1/STK11. These mutations inactivate a...
BACKGROUND
Peutz-Jeghers Syndrome (PJS) is a rare, autosomal dominant disease, caused by deletions in the chromosome 19p33.3/ gene LKB1/STK11. These mutations inactivate a serine/threonine kinase and predispose to carcinogenesis. In PJS, tumors of the gastrointestinal, testicles, pulmonary, breast, pancreas, uterus and ovaries can be found.
OBJECTIVE
To evaluate demographics, clinical presentation and complication/outcomes of pediatric patients presenting with Peutz-Jeghers syndrome (PJS), as well as to present and discuss management in the context of limited resources.
METHODS
We conducted a retrospective chart review of a cohort of six patients, who were diagnosed and/or followed at the Clinics Hospital, University of Campinas - Sao Paulo/Brazil, between 2000 and 2018. Data analyzed included gender, age of presentation, age of diagnosis, family history, PJS complications.
RESULTS
Median age of diagnosis of 6.7 years, with a mean time of follow-up of 8.1 years. Mucocutaneous pigmentation was universally present. Half of the patients had a known family history at the time of diagnosis. On follow up, intestinal intussusception was documented in four out of six patients, in most (three), in different locations and in multiple occasions. The active investigation of siblings and parents of the index case led to the diagnosis of three first-degree relatives in the present case series.
CONCLUSION
In this first pediatric PJS Brazilian case series, we report a wide spectrum of PJS manifestations and complications. In a resource limited scenario, despite limitations for the surveillance of complications, the relative frequency of complications was not higher than historically reported.
Topics: Brazil; Child; Female; Humans; Mutation; Peutz-Jeghers Syndrome; Retrospective Studies
PubMed: 32756735
DOI: 10.1590/s0004-2803.202000000-44 -
BMC Microbiology Nov 2023Peutz-Jeghers Syndromeis a rare autosomal dominant genetic disease characterized by gastrointestinal hamartomatous polyps and skin and mucous membrane pigmentation. The...
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.
Topics: Humans; Peutz-Jeghers Syndrome; Gastrointestinal Microbiome; Germ-Line Mutation; Fatty Acids, Volatile; Butyrates
PubMed: 38036954
DOI: 10.1186/s12866-023-03132-0 -
Acta Dermatovenerologica Alpina,... Sep 2019Peutz-Jeghers syndrome is a rare autosomal dominant disorder. Approximately 1:25,000 to 1:280,000 cases are registered annually. The pathogenesis of the disease is based...
Peutz-Jeghers syndrome is a rare autosomal dominant disorder. Approximately 1:25,000 to 1:280,000 cases are registered annually. The pathogenesis of the disease is based on the mutation of the STK 11 gene on chromosome 19. Peutz-Jeghers syndrome is characterized by several symptoms: the formation of multiple hamartomatous polyps primarily in the gastrointestinal tract and hyperpigmentation of the mucous membranes and skin. Patients with Peutz-Jeghers syndrome often develop various malignant neoplasms, mainly localized in the pancreas and colon. We describe Peutz-Jeghers syndrome in a girl 4 years 7 months old. Initially, the child was diagnosed with vitiligo due to complaints of depigmentation of the skin of the face and hands. During re-examination after half a year, foci of hyperpigmentation on the lip and mucous membranes of the oral cavity were noted. Esophagogastroduodenoscopy showed the presence of a polypous lump in the stomach. Genetic consultation confirmed the diagnosis of Peutz-Jeghers syndrome. The absence of family history indicates a sporadic case characterized by diseases with an autosomal-dominant mode of inheritance. This clinical case demonstrates the need for gastroenterological and genetic examinations in the presence of lesions on the oral mucosa and the vermillion border of the lips to confirm or exclude Peutz-Jeghers syndrome.
Topics: Child, Preschool; Female; Humans; Peutz-Jeghers Syndrome; Skin Diseases
PubMed: 31545393
DOI: No ID Found