Results 31 to 40 of about 5,184 (174)

Colorectal Cancer Screening in Hereditary and Familial High‐Risk Populations: Best Practices and Future Directions

International Journal of Cancer, EarlyView.
ABSTRACT Colorectal cancer (CRC) remains a leading cause of cancer‐related morbidity and mortality worldwide yet is largely preventable through effective screening and surveillance. While most CRC cases are sporadic, a substantial proportion occur in individuals at increased risk due to hereditary cancer syndromes or family history who require tailored
Ophir Gilad, Francesc Balaguer, Elizabeth E. Half, Kevin J. Monahan, Elena M. Stoffel, Sonia S. Kupfer   +5 more
wiley   +1 more source

Peutz-Jeghers syndrome and sinonasal diseases: A case report and literature review

Ear, Nose & Throat Journal
Peutz-Jeghers syndrome is an unusual inherited intestinal polyposis syndrome associated with distinct mucocutaneous pigmentation. Peutz-Jeghers syndrome is known to show variable penetrance and clinical heterogeneity.
Seung Yong Park MD, Kyung Soo Kim MD, PhD, Hyun Jin Min MD, PhD   +2 more
doaj   +1 more source

Deleterious mis‐splicing of STK11 caused by a novel single‐nucleotide substitution in the 3′ polypyrimidine tract of intron five

Molecular Genetics & Genomic Medicine, 2020
Background Pathogenic variants in STK11, also designated as LKB1, cause Peutz–Jeghers syndrome, which is a rare autosomal dominant disorder characterized by mucocutaneous pigmentation changes, polyposis, and a high risk of cancer.
Thorkild Terkelsen, Ole H. Larsen, Søren Vang, Uffe B. Jensen, Friedrik Wikman   +4 more
doaj   +1 more source

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

JPGN Reports, EarlyView.
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 polyp: A Retrospective Study on Twelve Cases Received at the Department of Pathology, Bangabandhu Sheikh Mujib Medical University

Bangabandhu Sheikh Mujib Medical University Journal, 2012
Background: Peutz Jegher syndrome is a rare inherited condition characterized mainly by gastrointestinal hamartomatous polyposis and mucocutaneous pigmentation.
Tamanna Choudhury, Suraiya Enam, Ferdousy Begum, Md. Taufiq, Mohammed Kamal   +4 more
doaj   +1 more source

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

JPGN Reports, EarlyView.
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

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, EarlyView.
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

A Rare Cause of Prepubertal Gynecomastia: Sertoli Cell Tumor

Case Reports in Pediatrics, 2015
Prepubertal gynecomastia due to testis tumors is a very rare condition. Nearly 5% of the patients with testicular mass present with gynecomastia. Sertoli cell tumors are sporadic in 60% of the reported cases, while the remaining is a component of ...
Fatma Dursun, Şeyma Meliha Su Dur, Ceyhan Şahin, Heves Kırmızıbekmez, Murat Hakan Karabulut, Asım Yörük   +5 more
doaj   +1 more source

Clinical manifestations and STK11 germline mutations in Taiwanese patients with Peutz–Jeghers syndrome

Asian Journal of Surgery, 2018
Summary: Backgrounds: Clinical manifestations and molecular basis of Taiwanese patients with Peutz–Jeghers syndrome (PJS) were investigated to add the knowledge of phenotype and genotype of the disease.
Jy-Ming Chiang, Tse-Ching Chen
doaj   +1 more source

Registro y seguimiento clínico de pacientes con síndrome de Peutz Jeghers en Valencia

Revista de Gastroenterología de México, 2020
Resumen: Introducción y objetivos: El síndrome de Peutz Jeghers (SPJ) es una enfermedad rara con herencia autosómica dominante, causada por una mutación germinal del gen STK11/LKB1, localizado en el cromosoma 19p13.3, que consiste en hiperpigmentación ...
F.A. Rodríguez Lagos, J.V. Sorlí Guerola, I.M. Romero Martínez, P. Codoñer Franch   +3 more
doaj   +1 more source