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Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3.

ABSTRACT: A locus for Peutz-Jeghers syndrome (PJS) was recently mapped to chromosome 19p13.3. Each of 12 families studied was compatible with linkage to the marker D19S886. We have analysed 20 further families and found that the majority of these are consistent with a PJS gene on 19p13.3. Three families were, however, unlinked to 19p13.3 and none of the available PJS polyps from these families showed allele loss at D19S886. There were no obvious clinicopathological or ethnic differences between the 19p13.3 linked and unlinked families. There appears, therefore, to be a major PJS locus on chromosome 19p13.3 and the possibility exists of a minor locus (or loci) elsewhere.

SUBMITTER: Olschwang S

PROVIDER: S-EPMC1051185 | biostudies-other | 1998 Jan

REPOSITORIES: biostudies-other

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Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3.

Olschwang S S Markie D D Seal S S Neale K K Phillips R R Cottrell S S Ellis I I Hodgson S S Zauber P P Spigelman A A Iwama T T Loff S S McKeown C C Marchese C C Sampson J J Davies S S Talbot I I Wyke J J Thomas G G Bodmer W W Hemminki A A Avizienyte E E de la Chapelle A A Aaltonen L L Tomlinson I I

Journal of medical genetics 19980101 1

A locus for Peutz-Jeghers syndrome (PJS) was recently mapped to chromosome 19p13.3. Each of 12 families studied was compatible with linkage to the marker D19S886. We have analysed 20 further families and found that the majority of these are consistent with a PJS gene on 19p13.3. Three families were, however, unlinked to 19p13.3 and none of the available PJS polyps from these families showed allele loss at D19S886. There were no obvious clinicopathological or ethnic differences between the 19p13. ...[more]

PMID: 9475093

Similar Datasets

Peutz-Jeghers syndrome.

Project description:Peutz-Jeghers syndrome (PJS, MIM 175,2000) is a disease of autosomal dominant inheritance that is characterised by hamartomatous gastrointestinal polyps and mucocutaneous pigmentation. In addition to problems such as intussusception, PJS predisposes to cancers of several sites. The unusual combination of clinical features makes the identification of the defect underlying PJS particularly interesting. Recently, the PJS gene has been mapped to chromosome 19p13.

| S-EPMC1051153 | biostudies-other

Melaena with Peutz-Jeghers syndrome: a case report.

Project description:IntroductionPeutz-Jeghers syndrome (PJS) is a rare familial disorder characterised by mucocutaneous pigmentation, gastrointestinal and extragastrointestinal hamartomatous polyps and an increased risk of malignancy. Peutz-Jeghers polyps in the bowel may result in intussusception. This complication usually manifests with abdominal pain and signs of intestinal obstruction.Case presentationWe report the case of a 24-year-old Caucasian male who presented with melaena. Pigmentation of the buccal mucosa was noted but he was pain-free and examination of the abdomen was unremarkable. Upper gastrointestinal endoscopy revealed multiple polyps. An urgent abdominal computed tomography (CT) scan revealed multiple small bowel intussusceptions. Laparotomy was undertaken on our patient, reducing the intussusceptions and removing the polyps by enterotomies. Bowel resection was not needed.ConclusionMelaena in PJS needs to be urgently investigated through a CT scan even in the absence of abdominal pain and when clinical examination of the abdomen shows normal findings. Although rare, the underlying cause could be intussusception, which if missed could result in grave consequences.

| S-EPMC2830979 | biostudies-literature

Chemoprevention in Patients with Peutz-Jeghers Syndrome: Lessons Learned.

Project description:Lessons learnedMotivating patients to enroll in chemopreventive studies is challenging.Chemoprevention with toxic drugs is not feasible.BackgroundLKB1 mutations are the underlying genetic abnormality causing Peutz-Jeghers syndrome (PJS) and are a potential target for everolimus. In this phase II study, the efficacy of everolimus on polyp and tumor growth in PJS patients was investigated.MethodsAdult patients with a proven LKB1 mutation and who were suitable for everolimus treatment were included in two different PJS cohorts: (a) patients with unresectable malignancies and (b) patients with high-risk polyps. Treatment in both groups was oral everolimus, 10 mg daily. Response rates were primary endpoints for both cohorts.ResultsBetween October 2011 and April 2016, only two patients were enrolled, one in each cohort. A 49-year-old patient with advanced pancreatic cancer in cohort 1 was progressive after 2 months. A 52-year-old male patient in cohort 2 experienced severe toxicity and refused treatment after 4 months, even though endoscopy suggested stabilization of polyps. Adverse events included dental inflammations, mucositis, and rash. In 2016, the trial was aborted for lack of accrual, despite extensive accrual efforts in an area where PJS is highly prevalent and care is highly centralized.ConclusionDue to accrual problems, no conclusions can be drawn about the value of everolimus in PJS treatment, questioning the feasibility of this agent for chemoprevention.

| S-EPMC5896716 | biostudies-literature

An unusual presentation revealing Peutz-Jeghers syndrome in adult.

Project description:IntroductionPeutz-Jeghers syndrome (PJS) is a rare hereditary disease characterized by hyperpigmentation on the lips and oral cavity and gastrointestinal hamartomatous polyps. The most common complications in PJS patients are bleeding, bowel obstruction and intussusception.Presentation of caseWe hereby report a case of a 33-year-old female, without a family history of the disease, who presented to the emergency room with acute abdominal pain, bloating and not passing gas. On abdominal examination, upper abdominal and periumbilical tenderness was found. Computed tomography (CT) of the abdomen demonstrated suspected ascending colon intussusception. The patient underwent a mid-line laparotomy that showed an ileocolic intussusception. Reduction of this intussusception was successfully done with resection of the affected segment that showed presence of two pedunculated polyps. The specimen was sent thereafter to our department for histopathological evaluation, which confirmed the diagnosis of hamartomatous Peutz-Jeghers polyps with no malignancy. Afterwards, the patient was carefully reexamined and the physical examination revealed multiple pigmented spots on the face and lips. Thus, the diagnosis of Peutz-Jeghers syndrome was made.DiscussionPJS is a rare autosomal dominant disorder that often remain undiagnosed for many years. Acute complications such as intestinal obstruction secondary to intussusception is one of infrequent revealing symptoms.ConclusionEarly identification, in patients with PJS and family members, as well as close cancer surveillance can improve certainly prognosis in these individuals.

| S-EPMC7486423 | biostudies-literature

Intestinal intussusception in Peutz Jeghers syndrome: A case report.

Project description:Hamartomatous polyposis is a rare cause of intussusception in adults. But this complication is the most frequent for patient with Peutz Jeghers syndrome. Small bowel screening is recommended for those patients in order to prevent emergency repetitive surgeries. We report here the case of a 20-year-old patient with confirmed Peutz Jeghers syndrome since eight years for whom a scheduled laparotomy was indicated. Asymptomatic intestinal intussusception was discovered intraoperatively. The patient was treated successfully with enterectomy and side to side anastomosis. Postoperative course was uneventful. Regular assessment as recommended for those patients is performed. Gastrointestinal intussusception in adults is rare and is often diagnosed preoperatively in a context of bowel obstruction. In the case of our patient, intussusception was diagnosed intraoperatively. This fact confirms the necessity of well-timed polypectomy in order to prevent this complication and the risk of extended resection in patients who are exposed to short gut syndrome by requiring iterative resections.

| S-EPMC7225367 | biostudies-literature

STK11 genotyping and cancer risk in Peutz-Jeghers syndrome.

Project description: Not available

| S-EPMC1736065 | biostudies-literature

Altered Gut Microbiota in Patients With Peutz-Jeghers Syndrome.

Project description:BackgroundPeutz-Jeghers syndrome (PJS) is a rare genetic disorder characterized by the development of pigmented spots and gastrointestinal polyps and increased susceptibility to cancers. It remains unknown whether gut microbiota dysbiosis is linked to PJS.AimThis study aimed to assess the structure and composition of the gut microbiota, including both bacteria and fungi, in patients with PJS and investigate the relationship between gut microbiota dysbiosis and PJS pathogenesis.MethodsThe bacterial and fungal composition of the fecal microbiota was analyzed in 23 patients with PJS (cases), 17 first-degree asymptomatic relatives (ARs), and 24 healthy controls (HCs) using 16S (MiSeq) and ITS2 (pyrosequencing) sequencing for bacteria and fungi, respectively. Differential analyses of the intestinal flora were performed from the phylum to species level.ResultsAlpha-diversity distributions of bacteria and fungi indicated that the abundance of both taxa differed between PJS cases and controls. However, while the diversity and composition of fecal bacteria in PJS cases were significantly different from those in ARs and HCs, fungal flora was more stable. High-throughput sequencing confirmed the special characteristics and biodiversity of the fecal bacterial and fungal microflora in patients with PJS. They had lower bacterial biodiversity than controls, with a higher frequency of the Proteobacteria phylum, Enterobacteriaceae family, and Escherichia-Shigella genus, and a lower frequency of the Firmicutes phylum and the Lachnospiraceae and Ruminococcaceae families. Of fungi, Candida was significantly higher in PJS cases than in controls.ConclusionThe findings reported here confirm gut microbiota dysbiosis in patients with PJS. This is the first report on the bacterial and fungal microbiota profile of subjects with PJS, which may be meaningful to provide a structural basis for further research on intestinal microecology in PJS.

| S-EPMC9326469 | biostudies-literature

STK11 status and intussusception risk in Peutz-Jeghers syndrome.

Project description:BackgroundPeutz-Jeghers syndrome (PJS) is caused by germline STK11 mutations and characterised by gastrointestinal polyposis. Although small bowel intussusception is a recognised complication of PJS, risk varies between patients.ObjectiveTo analyse the time to onset of intussusception in a large series of PJS probands.MethodsSTK11 mutation status was evaluated in 225 PJS probands and medical histories of the patients reviewed.Results135 (60%) of the probands possessed a germline STK11 mutation; 109 (48%) probands had a history of intussusception at a median age of 15.0 years but with wide variability (range 3.7 to 45.4 years). Median time to onset of intussusception was not significantly different between those with identified mutations and those with no mutation detected, at 14.7 years and 16.4 years, respectively (log-rank test of difference, chi(2) = 0.58, with 1df; p = 0.45). Similarly no differences were observed between patient groups on the basis of the type or site of STK11 mutation.ConclusionsThe risk of intussusception in PJS is not influenced by STK11 mutation status.

| S-EPMC2564597 | biostudies-literature

Mutations in STK11 gene in Czech Peutz-Jeghers patients.

Project description:BackgroundPeutz-Jeghers syndrome (PJS) is an autosomal dominant hereditary disease characterized by mucocutaneous pigmentation and gastrointestinal hamartomatous polyposis. The germline mutations in the serine/threonine kinase 11 (STK11) gene have been shown to be associated with the disease. Individuals with PJS are at increased risk for development of various neoplasms. The aim of the present study was to characterize the genotype and phenotype of Czech patients with PJS.MethodsWe examined genomic DNA of 8 individuals from five Czech families by sequencing analysis of STK11 gene, covering its promotor region, the entire coding region and the splice-site boundaries, and by multiplex ligation-dependent probe amplification (MLPA) assay designed for the identification of large exonic deletions or duplications of STK11 gene.ResultsWe found pathogenic mutations in STK11 gene in two families fulfilling the diagnostic criteria of PJS and in one of three sporadic cases not complying with the criteria. The patient with the frameshift mutation in STK11 gene developed aggressive gastric cancer. No other studied proband has developed a carcinoma so far.ConclusionOur results showed that a germline mutation of STK11 gene can be found not only in probands fulfilling the PJS diagnostic criteria, but also in some sporadic cases not complying with the criteria. Moreover, we observed a new case of aggressive gastric cancer in a young patient with a frameshift mutation of STK11 gene.

| S-EPMC2726128 | biostudies-literature

Immune profiling of premalignant lesions in patients with Peutz-Jeghers Syndrome

Project description:RNA sequencing was performed in a total of 26 colorectal tissues from 26 unrelated patients including PJS polyps (n=6), familial adenomatous polyposis (FAP) polyps (n=9), paracancerous colonic mucosae (ConA) (n=9) as well as non-PJS and non-FAP sporadic polyps (ConB) (n=5)

2024-12-23 | GSE196711 | GEO

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