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Journal of the Belgian Society of... 2022: Gastroduodenal intussusception is an infrequent cause of abdominal pain in children, for which a lead-point is nearly ubiquitous, which imposes endoscopic reduction as...
: Gastroduodenal intussusception is an infrequent cause of abdominal pain in children, for which a lead-point is nearly ubiquitous, which imposes endoscopic reduction as the first line of treatment.
PubMed: 35088030
DOI: 10.5334/jbsr.2572 -
Medicine Apr 2017Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic syndrome characterized by a unique type of gastrointestinal hamartomatous polyp associated with oral and... (Review)
Review
RATIONALE
Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic syndrome characterized by a unique type of gastrointestinal hamartomatous polyp associated with oral and anal mucocutaneous pigmentations. Peutz-Jeghers polyps occur most numerously in the small intestine but frequently in the colon and stomach, only a few cases have been reported in the duodenum.
PATIENT CONCERN
A further family history survey discovered 10 out of 14 members of the family (in 4 generations) had mucocutaneous pigmentations, but many of them were living in rural areas where they had no access to specialized medical services, so none were checked with endoscopy for polyps of hamartoma.
DIAGNOSES
We report the case of a boy patient with mucocutaneous pigmentations over the lips, and a history of recurrent bouts of vomit and anemia over the preceding two years, no abdominal pain and mass. An upper gastrointestinal endoscopy revealed some small polyps in the stomach and multiple sessile polyps in the second part of the duodenum, but colonoscopy exam did not reveal any lesion.
INTERVENTIONS
A double polypectomy and duodenum segmentary resection with end-to-end anastomosis was performed. Histopathology of the resected duodenum polyps indicated it to be a typical hamartomatous polyp.
OUTCOMES
The child was under regular follow-up and recovered well.
LESSONS
In this case, the patient was characteristic with pigmentations on his lips and intermittent upper intestinal obstruction (due to mass duodenal polyps), there are no definitive guidelines for the treatment to duodenal PJS hamartomatous polyp, each case requires tailor-made management.
Topics: Child; Diagnosis, Differential; Humans; Intestinal Obstruction; Male; Peutz-Jeghers Syndrome
PubMed: 28445255
DOI: 10.1097/MD.0000000000006538 -
Clinics in Colon and Rectal Surgery Nov 2008Children with polyps usually present with bleeding or pain. Most pediatric intestinal polyps are sporadic and are not associated with malignancy. Polyposis syndromes are...
Children with polyps usually present with bleeding or pain. Most pediatric intestinal polyps are sporadic and are not associated with malignancy. Polyposis syndromes are also well described in children. Peutz-Jeghers syndrome is the most common hamartomatous polyposis condition. Although the polyps are not thought to be premalignant in most patients, there is an increased risk of other cancers. Familial adenomatous polyposis is also seen in childhood and is associated with a very high risk of malignant transformation as well as extracolonic adenomas and malignancy. The diagnosis and management of sporadic juvenile polyps, Peutz-Jeghers syndrome, and familial adenomatous polyposis, as well as rarer conditions associated with intestinal polyps are reviewed in this article.
PubMed: 20011439
DOI: 10.1055/s-0028-1089943 -
Cellular and Molecular Life Sciences :... May 1999Peutz-Jeghers syndrome (PJS) is a classic, but not widely known hereditary trait [1, 2]. Its clinical hallmarks are intestinal hamartomatous polyposis and melanin... (Review)
Review
Peutz-Jeghers syndrome (PJS) is a classic, but not widely known hereditary trait [1, 2]. Its clinical hallmarks are intestinal hamartomatous polyposis and melanin pigmentation of the skin and mucous membranes. In addition, PJS predisposes to cancer [3, 4]. The most common malignancies are small intestinal, colorectal, stomach and pancreatic adenocarcinomas. Other cancer types that probably occur in excess in PJS families include breast and uterine cervical cancer, as well as testicular and ovarian sex cord tumors. The relative risk of cancer may be as high as 18 times that of the general population, and the cancer patients' prognosis is reduced. Recently, the predisposing locus was mapped to 19p13.3 using a novel method [5]. Subsequently, the causative gene was shown to be LKB1 (a.k.a. STK11), a serine/threonine kinase of unknown function [6]. Although preliminary reports seem to suggest a minor role for LKB1 in sporadic tumorigenesis [7-12], further investigations are needed.
Topics: AMP-Activated Protein Kinase Kinases; Chromosome Mapping; Chromosomes, Human, Pair 19; Female; Genes, Tumor Suppressor; Genetic Linkage; Humans; Loss of Heterozygosity; Male; Microsatellite Repeats; Mutation; Peutz-Jeghers Syndrome; Pigmentation Disorders; Protein Serine-Threonine Kinases; Risk Factors
PubMed: 10379360
DOI: 10.1007/s000180050329 -
Clinical Cancer Research : An Official... May 2006Although an increased cancer risk in Peutz-Jeghers syndrome is established, data on the spectrum of tumors associated with the disease and the influence of germ-line...
BACKGROUND
Although an increased cancer risk in Peutz-Jeghers syndrome is established, data on the spectrum of tumors associated with the disease and the influence of germ-line STK11/LKB1 (serine/threonine kinase) mutation status are limited.
EXPERIMENTAL DESIGN
We analyzed the incidence of cancer in 419 individuals with Peutz-Jeghers syndrome, and 297 had documented STK11/LKB1 mutations.
RESULTS
Ninety-six cancers were found among individuals with Peutz-Jeghers syndrome. The risk for developing cancer at ages 20, 30, 40, 50, 60, and 70 years was 2%, 5%, 17%, 31%, 60%, and 85%, respectively. The most common cancers represented in this analysis were gastrointestinal in origin, gastroesophageal, small bowel, colorectal, and pancreatic, and the risk for these cancers at ages 30, 40, 50, and 60 years was 1%, 9%, 15%, and 33%, respectively. In women with Peutz-Jeghers syndrome, the risk of breast cancer was substantially increased, being 8% and 31% at ages 40 and 60 years, respectively. Kaplan-Meier analysis showed that cancer risks were similar in Peutz-Jeghers syndrome patients with identified STK11/LKB1 mutations and those with no detectable mutation (log-rank test of difference chi2 = 0.62; 1 df; P = 0.43). Furthermore, the type or site of STK11/LKB1 mutation did not significantly influence cancer risk.
CONCLUSIONS
The results from our study provide quantitative information on the spectrum of cancers and risks of specific cancer types associated with Peutz-Jeghers syndrome.
Topics: AMP-Activated Protein Kinase Kinases; Adult; Age of Onset; Aged; Breast Neoplasms; Female; Gastrointestinal Neoplasms; Germ-Line Mutation; Humans; Incidence; Male; Middle Aged; Peutz-Jeghers Syndrome; Protein Serine-Threonine Kinases; Risk Factors
PubMed: 16707622
DOI: 10.1158/1078-0432.CCR-06-0083 -
Orphanet Journal of Rare Diseases Jul 2014Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden... (Review)
Review
Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as Gorlin Syndrome and multiple endocrine neoplasia syndrome 2B are sometimes referred to as HPS. HPS is characterized by the development of hamartomatous polyps in the gastrointestinal tract as well as several extra-intestinal findings such as dermatological and dysmorphic features or extra-intestinal cancer. The syndromes are rare and inherited in an autosomal dominant manner.The diagnosis of HPS has traditionally been based on clinical criteria, but can sometimes be difficult as the severity of symptoms range considerably from only a few symptoms to very severe cases - even within the same family. De novo cases are also frequent. However, because of the discovery of several associated germline-mutations as well as the rapid development in genetics it is now possible to use genetic testing more often in the diagnostic process. Management of the syndromes is different for each syndrome as extra-intestinal symptoms and types of cancers differs.Clinical awareness and early diagnosis of HPS is important, as affected patients and at-risk family members should be offered genetic counselling and surveillance. Surveillance in children with HPS might prevent or detect intestinal or extra-intestinal complications, whereas in adulthood surveillance is recommended due to an increased risk of cancer e.g. intestinal cancer or breast cancer.
Topics: Humans; Peutz-Jeghers Syndrome
PubMed: 25022750
DOI: 10.1186/1750-1172-9-101 -
World Journal of Gastrointestinal... Jul 2014To assess the usefulness of the balloon assisted enteroscopy in preventing surgical intervention in patients with Peutz-Jeghers syndrome (PJS) having a small bowel large...
AIM
To assess the usefulness of the balloon assisted enteroscopy in preventing surgical intervention in patients with Peutz-Jeghers syndrome (PJS) having a small bowel large polyps.
METHODS
Seven consecutive asymptomatic pts (age 15-38 years) with PJS have been collected; six underwent polypectomy using single balloon enteroscopy (Olympus SIF Q180) with antegrade approach using push and pull technique. SBE system consists of the SIF-Q180 enteroscope, an overtube balloon control unit (OBCU Olympus Balloon Control Unit) and a disposable silicone splinting tube with balloon (ST-SB1). All procedures were performed under general anesthesia. Previously all pts received wireless capsule endoscopy (WCE). Prophylactic polypectomy was reserved mainly in pts who had polyps > 15 mm in diameter. The balloon is inflated and deflated by a balloon control unit with a safety pressure setting range from -6.0 kPa to +5.4 kPa. Informed consent has been obtained from pts or parents for each procedure.
RESULTS
Six pts underwent polypectomy of small bowel polyps; in 5 pts a large polyp > 15 mm (range 20-50 mm in diameter) was resected; in 1 patient with WCE negative, SBE was performed for previous surgical resection of gastrointestinal stromal tumors. In 2 pts endoscopic clips were placed due to a polypectomy. No surgical complication have been reported. SBE with resection of small bowel large polyps in PJS pts was useful to avoid gastrointestinal bleeding and emergency laparotomy due to intestinal intussusceptions. No gastrointestinal tumors were found in subsequent enteroscopic surveillance in all seven pts. In order surveillance, all pts received WCE, upper endoscopy, ileocolonoscopy every 2 years. No pts had extraintestinal malignant lesions. SBE was performed when WCE was positive for significant polyps (> 15 mm).
CONCLUSION
The effective of prophylactic polypectomy of small bowel large polyps (> 15 mm) could be the first line treatment for conservative approach in management of PJS patients.
PubMed: 25031791
DOI: 10.4253/wjge.v6.i7.318 -
Indian Journal of Surgical Oncology Jun 2022Peutz-Jeghers syndrome (PJS) is an autosomal dominant familial hamartomatous polyposis syndrome characterized by multiple gastrointestinal hamartomatous polyps and...
Peutz-Jeghers syndrome (PJS) is an autosomal dominant familial hamartomatous polyposis syndrome characterized by multiple gastrointestinal hamartomatous polyps and mucocutaneous melanin pigmentation. We report two cases, with no family history, presenting as emergency, one with perforation peritonitis due to spontaneous bowel disruption and another with bowel gangrene due to severe bowel congestion secondary to intussusception. Histological examination showed features of hamartomatous polyposis; other clinical features in these patients were suggestive of the diagnosis of Peutz-Jeghers syndrome. Given the multitude of carcinoma that these patients are susceptible to, aggressive screening protocols are recommended. Close monitoring and follow-up are essential in PJS patients for the prevention of potential complications, early detection of related malignancies due their increased risk for both intestinal and extraintestinal malignancies.
PubMed: 35782820
DOI: 10.1007/s13193-021-01448-9 -
Frontiers in Oncology 2022Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder associated with a predisposition to a variety of cancers. Previous studies that have evaluated...
Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder associated with a predisposition to a variety of cancers. Previous studies that have evaluated the cancer spectrum and risk of this rare disease have primarily been based on small data sets or heterogeneous cohorts from different countries. Here, we report the results of a large homogeneous cohort of Chinese PJS patients who were followed prospectively from 2006 to July 2021, and clinical data before 2006 were retrospectively collected. A total of 412 PJS patients (56.55% males) from 208 families were enrolled, contributing 12,798 person-years of follow-up. A total of 113 cancers were diagnosed in 109 patients (26.46%). The median age at the first cancer diagnosis was 40 years. In particular, patients born after the 1980s were diagnosed with cancer at an earlier median age of 30.5 years. The cumulative cancer risk was sharply increased to 30.9% at age 40 years; this high cancer risk age was 10 years earlier than that reported in previous Western studies, and increased to 76.2% at an age of 60 years. The most common cancer was gastrointestinal (GI) cancer (64.6%), in which colorectal cancer constituted a significantly larger proportional distribution (32.74%), when compared with previous investigations (11.1%-20.83%). There was some evidence that overrepresentation point variants in domain XI of may be associated with GI cancers. Furthermore, the incidences of gynecological and lung cancers were second only to that of GI cancer in this cohort. These results may provide novel insight for justifying surveillance to detect cancers at an earlier phase to improve clinical outcomes. Furthermore, the potential genotype-phenotype association could be the basis for future genetic counseling.
PubMed: 36033506
DOI: 10.3389/fonc.2022.900516 -
Journal of Surgical Case Reports May 2024Peutz-Jeghers syndrome (PJS) is a rare genetic disorder causing gastrointestinal polyps and skin pigmentation. Our case report highlights a unique instance of...
Peutz-Jeghers syndrome (PJS) is a rare genetic disorder causing gastrointestinal polyps and skin pigmentation. Our case report highlights a unique instance of jejuno-jejunal intussusception associated with PJS in a 28-year-old female patient who presented to the emergency department with colicky abdominal pain, tachycardia, and gastrointestinal symptoms. Physical examination revealed mucocutaneous hyperpigmentation. Imaging studies showed a U-shaped distension in the jejunum with thickening and pneumatosis. Laparotomy revealed a jejuno-jejunal volvulus with intussusception. Surgical resection successfully addressed gangrenous jejunal tissue and ileal polyps. Histopathology confirmed PJS polyps. Postoperatively, the patient recovered well and was discharged. Family history revealed similar skin lesions in her uncle. Our case highlights the need for prompt surgical intervention to address complications associated with PJS and elucidates a unique presentation of PJS involving jejuno-jejunal intussusception and volvulus leading to complete small bowel obstruction. We aim to deepen understanding and prompt discussions on optimal therapeutic strategies.
PubMed: 38812577
DOI: 10.1093/jscr/rjae335