Results 41 to 50 of about 5,233 (133)

Unusual Presentation of Intussusception of the Small Bowel with Peutz Jeghers Syndrome: Report of a Case [PDF]

Journal of Clinical and Diagnostic Research, 2013
The Peutz Jeghers syndrome (PJS) is an autosomal dominant disorder which is characterised by hamartomatous polyposes of the gastrointestinal tract, melanin pigmentation of the skin and mucous membranes, and an increased risk for cancer. We are reporting
Ashish Shrivastava, Akshara Gupta, Achal Gupta, Jyoti Shrivastava   +3 more
doaj   +1 more source

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, Volume 110, Issue 3, Page 389-401, September 2026.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

Large Rearrangements in Genes Responsible for Familial Adenomatous Polyposis, MUTYH-Associated Polyposis and Peutz–Jeghers Syndrome in Russian Patients

Российский журнал гастроэнтерологии, гепатологии, колопроктологии, 2023
Аim: to reveal the rate of large rearrangements in the genes responsible for familial adenomatous polyposis, MUTYH-associated polyposis and Peutz–Jeghers syndrome.Materials and methods. The MLPA method was used for identification of large rearrangements.
A. N. Loginova, Yu. A. Shelygin, V. P. Shubin, A. M. Kuzminov, D. Yu. Pikunov, T. A. Saveleva, A. S. Tsukanov   +6 more
doaj   +1 more source

Germline predisposition and somatic mutational landscape in synchronous mucinous metaplasia and neoplasia of the female genital tract

Clinical and Translational Medicine, Volume 16, Issue 8, August 2026.
Synchronous mucinous metaplasia and neoplasia of the female genital tract (SMMN‐FGT) is characterised by an enrichment of pathogenic germline variants in cancer‐predisposition genes, particularly BRCA1 and other homologous recombination repair genes. Recurrent TP53 mutations are concentrated in malignant lesions, while clonal and functional analyses ...
Ying Yuan, Li Zhang, Jiongbo Liao, Bo Wang, Linghui Lu, Dongchen Chu, Yue Shi, Jiaqi Liu, Feng Zhang, Shuyan Tang, Chao Wang   +10 more
wiley   +1 more source

Síndrome de Peutz-Jeghers: relato de caso

Revista do Colégio Brasileiro de Cirurgiões
Peutz-Jeghers syndrome (PJS) is a dominant autosomal inherited disorder characterized by intestinal hamartomatous polyps in association with mucocutaneous melanocytic maculae.
Aderivaldo Coelho de Andrade, Edílson Carvalho Júnior, Karoline da Silva Dantas, Jocerlano Santos de Sousa, Ricardo Keyson Paiva de Morais   +4 more
doaj   +1 more source

A case report of Peutz–Jeghers syndrome in a child with Crohn's disease

JPGN Reports, Volume 7, Issue 3, Page 432-435, August 2026.
Abstract Peutz–Jeghers syndrome (PJS) is a rare genetic disorder characterized by hamartomatous polyps and mucocutaneous hyperpigmented freckles, whereas Crohn's disease (CD) is a condition characterized by chronic intestinal inflammation. Here, we present a rare case report of an 11‐year‐old male who presented with both CD and PJS.
Hasala Rannulu, Eve May, Bethany Cunningham, Eric Cochran, Rachel Zdenek, Stefany H. Garrity   +5 more
wiley   +1 more source

Peutz-Jeghers Syndrome: A Case Report and Literature Review in Indonesia

The Indonesian Journal of Gastroenterology, Hepatology and Digestive Endoscopy
Background: Peutz-Jeghers Syndrome (PJS) is a rare hereditary polyposis syndrome that is autosomal dominant and has the main characteristics of hamartoma polyps, mucocutaneous pigmentation, and increased susceptibility to malignancy.
Kaka Renaldi, Yudha Friatna
doaj   +1 more source

Endoscopic ischemic polypectomy for small intestinal polyps in a 7‐year‐old girl with juvenile polyposis syndrome

JPGN Reports, Volume 7, Issue 3, Page 471-473, August 2026.
Abstract This is the first report of endoscopic ischemic polypectomy (EIP) for small intestinal polyps in a pediatric patient with juvenile polyposis syndrome (JPS). A 7‐year‐old girl underwent double‐balloon enteroscopy, during which 17 pedunculated polyps were treated using the crossed‐clip strangulation method without complications. Ten‐month follow‐
Shingo Kurasawa, Shun Watanabe, Satoshi Ukai, Ayako Furuya, Kato Sawako, Yoshiko Nakayama   +5 more
wiley   +1 more source

Colocolic Intussusception: A Case Report of an Uncommon Manifestation of Peutz-Jeghers Syndrome

مجله كليه طب الكندي
Peutz-Jeghers syndrome is a rare genetic disorder resulting from defects in signaling pathway regulation, marked by gastrointestinal hamartomas and mucocutaneous pigmentation.
Qasem Alyhari, Saleh Al-Wageeh, Faisal Ahmed, Hanan Mohammed, Noha Dahan, Asad Alhadi   +5 more
doaj   +1 more source

Safety and efficacy of an enteroscopy-based approach in reducing the polyp burden in patients with Peutz–Jeghers syndrome: experience from a tertiary referral center

Therapeutic Advances in Gastrointestinal Endoscopy, 2020
Background: Patients with Peutz–Jeghers syndrome develop hamartomatous polyps in the small bowel, possibly causing anemia, intussusception, and obstruction.
Pablo Cortegoso Valdivia, Emanuele Rondonotti, Marco Pennazio   +2 more
doaj   +1 more source