2,624 results match your criteria Peutz-Jeghers Syndrome


[100 years Peutz-Jeghers syndrome].

Ned Tijdschr Geneeskd 2022 May 4;166. Epub 2022 May 4.

LUMC, afd. Maag-, Darm- en Leverziekten, Leiden.

In 2021 it was 100 years since drPeutz published his case report titled: 'a very remarkable case of familial polyposis of mucous membranes of intestinal tract and nasopharynx accompanied by peculiar pigmentations of skin and mucous membrane'. This is the first description of the Peutz-Jeghers syndrome, which is named after him. Like Peutz already suggested a century ago, we know now that this is a genetic disorder (autosomal dominant) caused by mutations in the STK11 gene. Read More

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Is Biannual Surveillance for Pancreatic Cancer Sufficient in Individuals With Genetic Syndromes or Familial Pancreatic Cancer?

J Natl Compr Canc Netw 2022 Jun;20(6):663-673.e12

1Department of Surgery, McGill University, Montreal, Quebec.

Background: Individuals with a family history of pancreatic adenocarcinoma (PC) or with a germline mutation in a PC susceptibility gene are at increased risk of developing PC. These high-risk individuals (HRIs) may benefit from PC surveillance.

Methods: A PC surveillance program was developed to evaluate the detection of premalignant lesions and early-stage PCs using biannual imaging and to determine whether locally advanced or metastatic PCs develop despite biannual surveillance. Read More

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Endoscopic Therapy of Small Bowel Polyps by Single-Balloon Enteroscopy in Patients with Peutz-Jeghers Syndrome.

Int J Clin Pract 2022 1;2022:7849055. Epub 2022 Feb 1.

Department of Gastroenterology, Zhejiang Provincial People's Hospital, People's Hospital of Hangzhou Medical College, Hangzhou, Zhejiang, China.

Background: Little is known about the efficacy and safety of single-balloon enteroscopy (SBE) in patients with Peutz-Jeghers syndrome (PJS). The aim of this study was to assess the efficacy and safety of SBE for the treatment of small bowel polyps in patients with PJS.

Methods: We conducted a single-center observational study, which included all patients diagnosed with PJS who underwent SBE for polypectomy between January 2018 and March 2021. Read More

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Continuing Medical Education Questions: June 2022.

Authors:
Akwi W Asombang

Am J Gastroenterol 2022 Jun 17;117(6):844. Epub 2022 Feb 17.

Massachusetts General Hospital, Boston, Massachusetts.

Article Title: Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer. Read More

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A rare cause of mechanical intestinal obstruction due to small bowel intussusception: 'A solitary Peutz-Jeghers type hamartomatous polyp'.

Ulus Travma Acil Cerrahi Derg 2022 Jun;28(6):879-883

Department of General Surgery, Trakya University Faculty of Medicine, Edirne-Turkey.

Peutz-Jeghers Syndrome (PJS) is a rare autosomal dominant disorder which is characterized by hyperpigmentation in mucocutaneous membranes and hamartomatous polyps in the gastrointestinal tract (GIT). Common complications reported in patients with PSJ are bleeding and mechanical intestinal obstruction due to the hamartomatous polyps. There is also an increased risk of gastrointestinal and extra-intestinal malignancies in patients with PJS. Read More

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Gastrointestinal: An unusual cause of biliary obstruction in a case of Peutz-Jeghers syndrome.

J Gastroenterol Hepatol 2022 May 29. Epub 2022 May 29.

Department of Radiodiagnosis, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

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Peutz-Jeghers syndrome: revisited.

Autops Case Rep 2022 13;12:e2021384. Epub 2022 May 13.

Centro Universitário de Brasília, Medical School, Brasília, DF, Brasil.

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Family with Peutz-Jeghers syndrome in Indonesia.

JGH Open 2022 May 12;6(5):358-360. Epub 2022 Apr 12.

Division of Digestive, Department of Surgery, Faculty of Medicine Hasanuddin University Makassar Indonesia.

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterised by mucocutaneous pigmentation, gastrointestinal polyps and an increased risk of gastrointestinal and other cancers. We report an Indonesian woman, aged 28, with black spots on her lips who had multiple polyps extending from the stomach to the rectum. Her father and a son also had mucocutaneous lesions but they did not undergo gastrointestinal investigations. Read More

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The Tumor Suppressor Kinase LKB1: Metabolic Nexus.

Front Cell Dev Biol 2022 28;10:881297. Epub 2022 Apr 28.

Department of Biochemistry and Molecular Biology, Faculty of Medicine, Dalhousie University Halifax, Halifax, NS, Canada.

Liver kinase B1 (LKB1) is a multitasking tumor suppressor kinase that is implicated in multiple malignancies such as lung, gastrointestinal, pancreatic, and breast. was first identified as the gene responsible for Peutz-Jeghers syndrome (PJS) characterized by hamartomatous polyps and oral mucotaneous pigmentation. LKB1 functions to activate AMP-activated protein kinase (AMPK) during energy stress to shift metabolic processes from active anabolic pathways to active catabolic pathways to generate ATP. Read More

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Epidemiology, Risk Factors and Diagnosis of Small Bowel Adenocarcinoma.

Cancers (Basel) 2022 May 2;14(9). Epub 2022 May 2.

Department of Pathology, Saint Antoine Hospital, Assistance Publique Hôpitaux de Paris (APHP), Sorbonne Université, 75012 Paris, France.

Adenocarcinomas of the small intestine are rare tumors but their incidence is increasing. There is a slight male predominance. The median age at diagnosis is the 6th decade. Read More

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[A case of Peutz-Jeghers syndrome that developed triple cancers during the course].

Nihon Shokakibyo Gakkai Zasshi 2022 ;119(5):446-451

Department of Gastroenterology and Hepatology, Okayama University Hospital.

At the time of colon polyp follow-up, a 46-year-old Japanese woman with a history of invagination, colon polyps, cervical cancer, and breast cancer was suspected of Peutz-Jeghers syndrome and referred. Multiple polyposes of the jejunum were discovered by capsule endoscopy and double-balloon endoscopy, and the resected specimen was diagnosed with hamartoma. During the follow-up, advanced pancreatic cancer-derived from IPMN developed. Read More

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Lung cancer as a predominant feature in a patient with Peutz-Jeghers syndrome: Case report.

Thorac Cancer 2022 Jun 11;13(12):1862-1865. Epub 2022 May 11.

Laboratory of Molecular Oncology, Hellenic Foundation for Cancer Research/Aristotle University of Thessaloniki, Thessaloniki, Greece.

Peutz-Jeghers syndrome (PJS) is characterized by mucocutaneous pigmentation and gastrointestinal hamartomatous polyposis, which can lead to intussusception. PJS patients face high lifetime risks for various cancer types, with the majority of patients being diagnosed with tumors along the gastrointestinal tract. Herein, we present the case of a 34-year-old man who carried a germline STK11 pathogenic variant, while lacking the cardinal features of PJS syndrome. Read More

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Intussusception Caused by Peutz-Jeghers Syndrome.

Cureus 2022 Apr 3;14(4):e23792. Epub 2022 Apr 3.

Hematology/Oncology, Mercy Catholic Medical Center, Darby, USA.

A 20-year-old female patient with a family history significant for Peutz-Jeghers syndrome presented to the hospital multiple times with complaints of abdominal pain. On the initial visit to the hospital, the patient underwent small bowel resection for small bowel obstruction secondary to intussusception, following which she visited the hospital again one year later for similar complaints and underwent reduction of multiple points of intussusception of the small bowel without any resection of the same. Eventually, the patient underwent resection of the small bowel for the second time, along with tumor resections. Read More

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The Role of Reflectance Confocal Microscopy in the Evaluation of Pigmented Oral Lesions and Their Relationship With Histopathological Aspects.

Am J Dermatopathol 2022 May 3. Epub 2022 May 3.

Department of Stomatology, Dental School, University of Sao Paulo, Sao Paulo, Brazil; and.

Abstract: Oral pigmentations are a heterogeneous group and can be the result of physiological activity of oral mucosal melanocytes, secondary to exogenous causes, associated with systemic or local diseases, or due to proliferative activity of melanocytes. Their diagnosis is critical because these lesions can be markers of internal diseases or, in the case of melanocytic proliferative processes, they may represent a malignant neoplasm. In the past decade, the use of reflectance confocal microscopy, a noninvasive imaging tool, has aided the analysis of such lesions, but the establishment of firm criteria in their evaluation is still lacking. Read More

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Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer.

Gastroenterology 2022 Jun 26;162(7):2063-2085. Epub 2022 Apr 26.

Veterans Affairs Medical Center, White River Junction, Vermont; Geisel School of Medicine at Dartmouth, Hanover, New Hampshire.

The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden's syndrome and Bannayan-Riley-Ruvalcaba syndrome), and hereditary mixed polyposis syndrome. Diagnoses are based on clinical criteria and, in some cases, confirmed by demonstrating the presence of a germline pathogenic variant. Read More

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Diagnosis and management of cancer risk in the gastrointestinal hamartomatous polyposis syndromes: recommendations from the U.S. Multi-Society Task Force on Colorectal Cancer.

Gastrointest Endosc 2022 Jun 26;95(6):1025-1047. Epub 2022 Apr 26.

Veterans Affairs Medical Center, White River Junction, Vermont; Geisel School of Medicine at Dartmouth, Hanover, New Hampshire.

The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden's syndrome and Bannayan-Riley-Ruvalcaba syndrome), and hereditary mixed polyposis syndrome. Diagnoses are based on clinical criteria and, in some cases, confirmed by demonstrating the presence of a germline pathogenic variant. Read More

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Peutz-Jeghers syndrome: Evidence-based decision-making, regarding a case.

Rev Gastroenterol Mex (Engl Ed) 2022 Apr-Jun;87(2):263-265. Epub 2022 Apr 25.

Departamento de Gastroenterología, Hospital de Especialidades Puebla, Instituto Mexicano del Seguro Social, Puebla, Puebla, Mexico. Electronic address:

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Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer.

Am J Gastroenterol 2022 06 26;117(6):846-864. Epub 2022 Apr 26.

Veterans Affairs Medical Center, White River Junction, Vermont, USA.

The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden's syndrome and Bannayan-Riley-Ruvalcaba syndrome), and hereditary mixed polyposis syndrome. Diagnoses are based on clinical criteria and, in some cases, confirmed by demonstrating the presence of a germline pathogenic variant. Read More

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Gastric-phenotype Mucinous Carcinoma of the Fallopian Tube with Secondary Ovarian Involvement in a Woman with Peutz-Jeghers Syndrome: A Case Report.

Int J Surg Pathol 2022 Apr 24:10668969221095264. Epub 2022 Apr 24.

Pathology Department, 83011Complejo Hospitalario de Navarra, Pamplona, Spain.

Peutz-Jeghers syndrome is an autosomal dominant condition characterized by the association of hamartomatous polyps in the digestive tract, mucocutaneous pigmentation, family history, and infrequently tumors of the female genital tract with one of the most characteristic being the gastric-type endocervical adenocarcinoma. We present the case of a 75-year-old woman with a history of gastrointestinal polyps and cancer of the pancreas and breast, diagnosed with Peutz-Jeghers syndrome, who clinically debuted with a primary adnexal tumor. However, on histologic examination it was found to be a gastric-phenotype primary mucinous carcinoma tubal in origin, associated to tubal mucinous metaplasia and secondary ovarian involvement. Read More

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Laser therapy and light sources for labial lentigines in patients with Peutz-Jeghers syndrome.

Dermatol Ther 2022 Apr 14:e15519. Epub 2022 Apr 14.

Department of Pathology, School of Medicine, Universidade Presidente Antônio Carlos, Juiz de Fora, Brazil.

Labial lentigines associated with Peutz-Jeghers syndrome are challenging and represent a cosmetic problem. Laser and intense-pulsed light sources (IPLS) can be used to treat these macules. However, there are few guidelines regarding the different types of protocols found in the literature. Read More

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Hereditary Gynecologic Cancer Syndromes - A Narrative Review.

Onco Targets Ther 2022 8;15:381-405. Epub 2022 Apr 8.

Department of Gynecologic Oncology, Medical University Pleven, Pleven, Bulgaria.

Hereditary cancer syndromes are defined as syndromes, where the genetics of cancer are the result of low penetrant polymorphisms or of a single gene disorder inherited in a mendelian fashion. During the last decade, compelling evidence has accumulated that approximately 5-10% of all cancers could be attributed to hereditary cancer syndromes. A tremendous progress has been made over the last decade in the evaluation and management of these syndromes. Read More

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The complex and often confusing history, histology and histogenesis of mesonephric, STK11 adnexal tumour and mesonephric-like neoplasms of the upper female genital tract (including broad ligament).

Authors:
J A Bennett E Oliva

Histopathology 2022 Apr 8. Epub 2022 Apr 8.

Department of Pathology, Massachusetts General Hospital, Boston, MA, USA.

Mesonephric lesions in the female genital tract are uncommon, with those arising from the upper tract being much less frequent than those developing in the lower tract (mesonephric hyperplasia and carcinoma). The most common upper tract lesions include rete cyst/cystadenoma and female adnexal tumour of Wolffian origin (FATWO). The integration of morphological, immunohistochemical and molecular studies on FATWOs has enabled recognition of a novel entity, the STK11 adnexal tumour, which is often associated with Peutz-Jeghers syndrome (~50%) and frequently has a salivary gland morphology but an unknown origin. Read More

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Feasibility and Safety of Endoscopic Ischemic Polypectomy and Clinical Outcomes in Patients with Peutz-Jeghers Syndrome (with Video).

Dig Dis Sci 2022 Apr 8. Epub 2022 Apr 8.

Division of Gastroenterology and Hepatology, Department of Internal Medicine, Keio University School of Medicine, Tokyo, Japan.

Objectives: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant hereditary disease with a clinical features related to gastrointestinal (GI) hamartomatous polyposis, frequently observed in the small bowel. Balloon-assisted enteroscopy (BAE) has made non-surgical treatment of GI polyps possible. Endoscopic mucosal resection (EMR) has been performed but was associated with complications and difficulties. Read More

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Solitary gastric Peutz-Jeghers polyp: a case report.

Pan Afr Med J 2022 24;41:65. Epub 2022 Jan 24.

Department of Gastroenterology, Mohamed Tahar Maamouri Hospital, Nabeul, Tunisia.

Peutz-Jeghers syndrome is an inherited condition that is characterized by mucocutaneous pigmentation and hamartomatous polyposis in the gastrointestinal tract. It increases significantly the risk for developing of several cancers such as breast, colon, rectum, pancreas and stomach. Solitary Peutz-Jeghers polyp is defined as a unique hamartomatous polyp having the same histological features as Peutz-Jeghers syndrome polyps without associated intestinal polyposis, mucocutaneous pigmentation and family history of Peutz-Jeghers syndrome. Read More

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Noninvasive prenatal testing of hereditary colorectal cancer syndromes using cell-free DNA in maternal plasma.

Prenat Diagn 2022 05 2;42(5):557-566. Epub 2022 Apr 2.

Center for Reproductive Medicine, Changhai Hospital, Naval Medical University, Shanghai, China.

Objective: This study aimed to establish a practical protocol for early noninvasive prenatal testing (NIPT) for fetuses at risk of Peutz-Jeghers syndrome or familial adenomatous polyposis, two classical types of hereditary colorectal cancer syndromes, for risk evaluation and whole-life monitoring.

Method: Target enrichment was performed using hybridization probes coordinating the serine-threonine kinase 11 gene region and APC gene region, with 1458 highly heterozygous Single Nucleotide Polymorphisms included. Semitarget amplification random sequencing was used for large fragment deletion detection. Read More

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A case of sporadic Peutz-Jeghers syndrome presenting as multiple intussusceptions.

J Surg Case Rep 2022 Mar 9;2022(3):rjac070. Epub 2022 Mar 9.

Kettering Health - Washington Township, Department of Surgery, Washington Township, OH, USA.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant mutation of the STK11/LKB1 gene on chromosome 19 often characterized by mucocutaneous pigmentation, hamartomatous polyps, anemia, gastrointestinal bleeding and intussusception. We present the case of a 21-year-old female with no pertinent family history who received the diagnosis of PJS after presenting to the hospital with two episodes intussusception. Patients with PJS have an increased lifetime risk of developing stomach, small bowel, colon, pancreatic, breast, cervical, uterus and testicular cancer requiring religious surveillance at an early age. Read More

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68Ga-FAPI-04 Versus 18F-FDG PET/CT in a Case of Peutz-Jeghers Syndrome.

Clin Nucl Med 2022 Feb 28. Epub 2022 Feb 28.

From the Department of Nuclear Medicine, Changhai Hospital, Navy Medical University, Shanghai, China.

Abstract: Peutz-Jeghers syndrome is a rare inherited hamartomatous polyposis syndrome. We describe 68Ga-FAPI-04 and 18F-FDG PET/CT findings in a case of Peutz-Jeghers syndrome with primary duodenal clear cell sarcoma, peritoneal metastases, and multiple intestinal polyps varying in size. The duodenal tumor and its metastases showed increased FDG and FAPI uptake. Read More

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February 2022

Hereditary gynecologic tumors and precision cancer medicine.

J Obstet Gynaecol Res 2022 May 28;48(5):1076-1090. Epub 2022 Feb 28.

Department of Obstetrics and Gynecology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan.

Gynecologic cancers are more often caused by genetic factors than other cancers. Genetic testing has become a promising avenue for the prevention, prognosis, and treatment of cancers. This review describes molecular features of gynecologic tumors linked to hereditary syndromes, gives an overview of the current state of clinical management, and clarifies the role of gynecology in the treatment of hereditary tumors. Read More

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Risk for Surgery in Patients with Polyposis Syndrome after Therapy by Device-Assisted Enteroscopy (DAE): Long-Term Follow Up.

J Clin Med 2022 Feb 9;11(4). Epub 2022 Feb 9.

UOC Endoscopia Digestiva Chirurgica, Fondazione Policlinico Universitario A Gemelli IRCCS, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.

Background And Aim Of The Study: Polyposis syndromes such as Peutz-Jeghers (PJ) and familial adenomatous polyposis (FAP) are associated with the growth of small bowel polyps; the risk is approximately 60-90% for PJ and 40-70% for FAP. The primary aim of this study was to evaluate the efficacy of device-assisted enteroscopy (DAE) in the detection and treatment of small bowel polyps to reduce the risk of surgery. The secondary objective was to study complications and mortality. Read More

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February 2022