Adult intussusception is rare and is almost always associated with a lead point. Polyposis syndromes are a common cause of adult intussusceptions, with polyps acting as lead points. Peutz-Jeghers syndrome is associated with benign hamartomatous polyps and mucocutaneous pigmentation. Although hamartomatous polyps are not premalignant, there is an increased risk of gastrointestinal and non-gastrointestinal malignancy, most commonly involving the small bowel. Most patients with Peutz-Jeghers syndrome with acute abdomen are diagnosed to have intussusceptions, mostly of the enteroenteric type. Colocolic intussusceptions are rare in Peutz-Jeghers syndrome. To the best of our knowledge, synchronous colocolic intussusception in association with Peutz-Jeghers syndrome has not been previously reported. Here we present a case of malignant jejunal mass and synchronous colocolic intussusceptions in a patient with Peutz-Jeghers syndrome.
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http://dx.doi.org/10.1259/bjrcr.20150314 | DOI Listing |
Int J Surg Pathol
January 2025
Department of Pathology, the Second Hospital of Jilin University, Changchun, Jilin, China.
adnexal tumors are recently named tumors of the female adnexal region, associated with Peutz-Jeghers syndrome (PJS). There is a lack of studies on the clinical phenotypes of PJS concerning the pathology and molecular characteristics of adnexal tumors. We searched for 781 relevant studies through PubMed and Web of Science, and preliminary statistical and grouping comparisons were made using the screened study data combined with our patient.
View Article and Find Full Text PDFJ Family Med Prim Care
December 2024
Department of Surgery, Datta Meghe Medical College, DMIHER University, Wardha, Maharashtra, India.
Peutz-Jeghar syndrome (PJS) is an inherited condition that puts people at an increased risk for developing hamarotmatous polyps in the digestive tract as well as cancers of the breast, colon, rectum, pancreas, stomach, testicles, ovaries, lung and cervix. With typical presentation, majority cases of PJS can be diagnosed in childhood. PJS is inherited by mutation in the STK II gene, also known as LKB1 gene.
View Article and Find Full Text PDFJ Pediatr Gastroenterol Nutr
January 2025
Department of Pediatrics, Jichi Medical University, Shimotsuke, Tochigi, Japan.
Objectives: Patients with Peutz-Jeghers syndrome (PJS) require continuous medical management throughout their lives. However, few case series regarding the clinical course, polyp surveillance, and treatment, including endoscopic ischemic polypectomy (EIP) for pediatric patients with PJS, were reported. We analyzed the current status and clinical course of pediatric patients with PJS under the management of our institute, including those treated with EIP.
View Article and Find Full Text PDFGenes Dis
March 2025
The Mary & John Knight Translational Ovarian Cancer Research Unit, London Regional Cancer Program, London, ON N6A 4L6, Canada.
Genetic alterations to serine-threonine kinase 11 () have been implicated in Peutz-Jeghers syndrome and tumorigenesis. Further exploration of the context-specific roles of liver kinase B1 (LKB1; encoded by ) observed that it regulates AMP-activated protein kinase (AMPK) and AMPK-related kinases. Given that both migration and proliferation are enhanced with the loss of LKB1 activity combined with the prevalence of genetic alterations in cancer biopsies, LKB1 was marked as a tumor suppressor.
View Article and Find Full Text PDFJ Natl Compr Canc Netw
December 2024
National Comprehensive Cancer Network.
Multigene panel testing has allowed for the detection of a growing number of inherited pathogenic/likely pathogenic variants in people at high risk of cancer, including endometrial cancer (EC). Hereditary syndromes associated with EC include Lynch syndrome, PTEN hamartoma tumor syndrome, and Peutz-Jeghers syndrome. This manuscript provides the latest recommendations from the NCCN Guidelines for Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric on the screening and management of EC in patients at high risk for these syndromes, as well as the advantages and limitations of multigene panel testing.
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