Results 61 to 70 of about 5,377 (175)
Outcomes of ‘in‐house’ genetic testing within a specialist hereditary colorectal cancer registry
Abstract Aims Approximately 5%–10% of colorectal cancer (CRC) cases are due to known Mendelian syndromes. This study aimed to report the diagnostic yield of constitutional genetic testing, alongside clinicopathological factors for hereditary CRC, within a specialised National Bowel Hospital, and outside traditional genetics referral pathways.
Manasawee Srisuttayasathien +6 more
wiley +1 more source
The TESST classification of testicular sex cord‐stromal tumours was agreed upon by consensus based on the best available evidence. The picture shows the members of the TESST group and delegates of GUPS and ISUP present in‐person at the first meeting of the group held at Johns Hopkins Hospital (Baltimore, 2024). Aims Testicular sex cord‐stromal tumours (
Andres M. Acosta +29 more
wiley +1 more source
Síndrome de Peutz-Jeghers: relato de caso
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 +4 more
doaj +1 more source
Peutz-Jeghers syndrome: A circumventable emergency
Peutz-Jeghers syndrome (PJS) is characterized by multiple hamartomatous polyps in the gastrointestinal tract and mucocutaneous pigmentation. Here we present, a case of multiple gastrointestinal hamartomatous polyps in a 22-year-old male who had been operated for intestinal obstruction due to ileocolic intussusception.
Sourav Choudhury +4 more
openaire +3 more sources
STK11 Mutations and Deletions Define an Aggressive Molecular Subgroup of Cervical Adenocarcinoma
STK11 alterations, including mutations, focal deletions, and structural disruption of chromosome 19p, define a distinct molecular subgroup of cervical adenocarcinoma associated with younger age at diagnosis, poorer survival, and reduced benefit from immune checkpoint inhibitors, supporting improved molecular classification and future precision ...
Emma W. Robinson +22 more
wiley +1 more source
Peutz-Jeghers Syndrome: A Case Report and Literature Review in Indonesia
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
ABSTRACT Aims Colorectal cancer (CRC) remains a major cause of cancer mortality, with up to 26% of adenomas missed on conventional colonoscopy. Artificial intelligence (AI)–based computer‐aided detection (CADe) systems may reduce these miss rates.
Hardik Rughwani +11 more
wiley +1 more source
Colocolic Intussusception: A Case Report of an Uncommon Manifestation of Peutz-Jeghers Syndrome
Peutz-Jeghers syndrome is a rare genetic disorder resulting from defects in signaling pathway regulation, marked by gastrointestinal hamartomas and mucocutaneous pigmentation.
Qasem Alyhari +5 more
doaj +1 more source
Background: Patients with Peutz–Jeghers syndrome develop hamartomatous polyps in the small bowel, possibly causing anemia, intussusception, and obstruction.
Pablo Cortegoso Valdivia +2 more
doaj +1 more source
A 13-year-old girl presented with sudden-onset colicky abdominal pain and biliary vomiting. She was diagnosed with Peutz-Jeghers syndrome 2 months previously based on mucocutaneous pigmentation and hamartomatous polyposis.
Yoshiko Nakayama +5 more
doaj +1 more source

