keyword
https://read.qxmd.com/read/38136408/relevance-of-molecular-pathology-for-the-diagnosis-of-sex-cord-stromal-tumors-of-the-ovary-a-narrative-review
#21
REVIEW
Alexis Trecourt, Marie Donzel, Nadjla Alsadoun, Fabienne Allias, Mojgan Devouassoux-Shisheboran
Ovarian sex cord-stromal tumors (SCSTs) account for 8% of all primary ovarian neo-plasms. Accurate diagnosis is crucial since each subtype has a specific prognostic and treatment. Apart from fibrosarcomas, stromal tumors are benign while sex cord tumors may recur, sometimes with a significant time to relapse. Although the diagnosis based on morphology is straightforward, in some cases the distinction between stromal tumors and sex cord tumors may be tricky. Indeed, the immunophenotype is usually nonspecific between stromal tumors and sex cord tumors...
December 15, 2023: Cancers
https://read.qxmd.com/read/38094027/repeat-bidirectional-double-balloon-enteroscopy-1-year-later-may-be-proper-in-peutz-jeghers-patients-with-difficult-to-reach-polyps
#22
JOURNAL ARTICLE
Yohei Funayama, Kunihiko Oguro, Hirotsugu Sakamoto, Tomonori Yano, Jun Owada, Takuma Kobayashi, Yusuke Ono, Alan Kawarai Lefor, Hironori Yamamoto
Background and study aims Small-bowel polyps in patients with Peutz-Jeghers syndrome (PJS) are sometimes difficult to reach using double-balloon enteroscopy (DBE). However, they can induce intussusception, especially when ≧15 mm. This study aimed to review the outcomes of patients with such polyps. Patients and methods All patients with PJS with small-bowel polyps that bidirectional DBE failed to reach and were ≧5 mm as shown by DBE enterography at our institution from May 2006 to April 2022 were retrospectively evaluated...
December 2023: Endoscopy International Open
https://read.qxmd.com/read/38061703/acral-pigmentation-in-peutz-jeghers-syndrome-dermoscopic-findings-and-treatment-with-the-q-switched-nd-yag-laser
#23
Hyeonwoo Shin, Keunyoung Hur, Jee-Soo Lee, Moon-Woo Seong, Je-Ho Mun
Peutz-Jeghers syndrome (PJS; MIM 175200) is an autosomal dominant multiple-organ cancer syndrome. It is characterized by brown macules distributed in the perioral skin, oral mucosa, hands and feet, and hamartomatous gastrointestinal polyps that can eventually lead to intestinal obstruction, abdominal pain, bleeding, and anemia. Patients with PJS are at a higher risk of ovarian, testicular, breast, lung, and pancreatic cancers. This predisposition is due to the pathogenic variant in serine/threonine kinase 11 ( STK11 ) gene located on chromosome 19p13...
November 2023: Annals of Dermatology
https://read.qxmd.com/read/38036954/changes-of-gut-microbiota-and-short-chain-fatty-acids-in-patients-with-peutz-jeghers-syndrome
#24
JOURNAL ARTICLE
An Zhou, Bo Tang, Yuhong Xie, Shengpeng Li, Xu Xiao, Lingyi Wu, Dianji Tu, Sumin Wang, Yunxuan Feng, Xiaojie Feng, Yi Lai, Shoubin Ning, Shiming Yang
Peutz-Jeghers Syndromeis a rare autosomal dominant genetic disease characterized by gastrointestinal hamartomatous polyps and skin and mucous membrane pigmentation. The pathogenesis of PJS remains unclear; however, it may be associated with mutations in the STK11 gene, and there is currently no effective treatment available. The gut microbiota plays an important role in maintaining intestinal homeostasis in the human body, and an increasing number of studies have reported a relationship between gut microbiota and human health and disease...
November 30, 2023: BMC Microbiology
https://read.qxmd.com/read/38020466/endoscopic-treatment-of-colo-colonic-intussusception-in-a-patient-with-peutz-jeghers-syndrome
#25
Takeshi Fujima, Daisuke Saito, Hidenori Shibuta, Ryota Ogihara, Hiromu Morikubo, Ryo Ozaki, Sotaro Tokunaga, Shintaro Minowa, Tatsuya Mitsui, Miki Miura, Mari Hayashida, Yoshiko Watanabe, Jun Miyoshi, Minoru Matsuura, Junji Shibahara, Etsuji Ukiyama, Tadakazu Hisamatsu
A 19-year-old man with a history of Peutz-Jeghers syndrome (PJS) and two previous partial small bowel resections because of intussusception presented with lower abdominal pain. Computed tomography (CT) showed concentric multilayer and cord-like structures in the transverse colon. Colo-colonic intussusception was suspected and he was hospitalized. After two therapeutic enemas were unsuccessful, a colonoscopy was performed. The intussusception was reduced and a 40-mm transverse colon polyp with a thick stalk was resected...
2023: Case Reports in Gastroenterology
https://read.qxmd.com/read/37892343/small-intestinal-polyp-burden-in-pediatric-peutz-jeghers-syndrome-assessed-through-capsule-endoscopy-a-longitudinal-study
#26
JOURNAL ARTICLE
Jeremy Stewart, Nathan R Fleishman, Vincent S Staggs, Mike Thomson, Nicole Stoecklein, Caitlin E Lawson, Michael P Washburn, Shahid Umar, Thomas M Attard
The management of pediatric Peutz-Jeghers Syndrome (PJS) focuses on the prevention of intussusception complicating small intestinal (SI) polyposis. This hinges on the accurate appraisal of the polyp burden to tailor therapeutic interventions. Video Capsule Endoscopy (VCE) is an established tool to study SI polyps in children, but an in-depth characterization of polyp burden in this population is lacking. Methods: We performed a retrospective longitudinal cross-sectional analysis of VCE studies in pediatric PJS patients at our institution (CMKC) from 2010 to 2020...
October 12, 2023: Children
https://read.qxmd.com/read/37882433/-a-man-with-brown-discolorations
#27
JOURNAL ARTICLE
Kelly A A Kwa, Kees-Peter de Roos
A 58-year-old man presents with spontaneous brown discolorations of his mouth and hands. Our differential diagnosis included Peutz-Jeghers syndrome, Laugier-Hunziker syndrome or Addison's disease. There were no polyps in a previously performed colonoscopy and no other systemic symptoms. We made the diagnosis Laugier-Hunziker syndrome, a benign skin disorder that doesn't require treatment, confirmed by skin biopsy.
October 18, 2023: Nederlands Tijdschrift Voor Geneeskunde
https://read.qxmd.com/read/37821988/retraction-note-multidisciplinary-management-for-peutz-jeghers-syndrome-and-prevention-of-vertical-transmission-to-offspring-using-preimplantation-genetic-testing
#28
Xiqiao Xu, Ruifeng Song, Kaiyue Hu, Ya Li, Haixia Jin, Bing Chen, Wenyan Song, Yile Zhang, Jiawei Xu, Yingpu Sun
No abstract text is available yet for this article.
October 11, 2023: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/37808567/a-rare-type-of-polyp-in-the-duodenum
#29
Kumi Itami, Takaaki Yoshikawa, Shujiro Yazumi
Although solitary P-J type hamartomatous polyp in the duodenum is rare, the polyp has malignant potential. We should recognize the entity and resect it with a safety margin in case the polyp exhibits an irregular form.
October 2023: Clinical Case Reports
https://read.qxmd.com/read/37795464/cancer-risk-of-peutz-jeghers-syndrome-and-treatment-experience-a-chinese-medical-center
#30
REVIEW
Zuxin Xu, Guoli Gu
Peutz-Jeghers syndrome (PJS), also known as hereditary mucocutaneous pigmented gastrointestinal polyposis, is a clinically rare autosomal dominant genetic disease, which falls into the category of hereditary colorectal cancer. There are ∼7,000 new cases of PJS in China every year, and 170,000 PJS patients may survive for a long time in society. PJS polyps are characterized by an early age of onset, difficult diagnosis and treatment, and easy recurrence. With repeated growth, polyps can lead to serious complications such as intestinal obstruction, intussusception, gastrointestinal bleeding, and cancerization, which cause serious clinical problems...
November 2023: Clinics in Colon and Rectal Surgery
https://read.qxmd.com/read/37776958/clinicopathologic-comparison-between-sporadic-and-syndromic-peutz-jeghers-polyps
#31
JOURNAL ARTICLE
Bella Lingjia Liu, Stephen C Ward, Alexandros D Polydorides
Peutz-Jeghers polyps (PJPs) are hamartomatous polyps that may define patients with Peutz-Jeghers syndrome (PJS), a rare inherited polyposis syndrome with high cancer risk. However, the clinical significance of 1-2 sporadic PJPs (without other PJS stigmata) regarding malignant potential and identification of new PJS probands is still unclear. We identified 112 patients with 524 histologically confirmed PJPs and categorized them based on polyp number into syndromic (n = 38) if ≥3 PJPs or diagnosed PJS, solitary (1 PJP, n = 61), and intermediate (2 PJPs, n = 13)...
November 2023: Human Pathology
https://read.qxmd.com/read/37767326/a-novel-stop-codon-mutation-in-stk11-gene-is-associated-with-peutz-jeghers-syndrome-and-elevated-cancer-risk-a-case-study
#32
Binazir Khanabadi, Diba Najafgholizadeh Seyfi, Leili Rejali, Mohammad Yaghoob Taleghani, Mehdi Tavallaei, Shabnam Shahrokh, Elahe Daskar Abkenar, Fatemeh Naderi Noukabadi, Hamid Asadzadeh Aghdaei, Ehsan Nazemalhosseini Mojarad
Based on the analysis of patients with Peutz-Jeghers syndrome (PJS), Serine threonine kinase11 (STK11) is known as a tumor suppressor gene, which is involved in cell polarization, regulation of apoptosis, and DNA damage response. In this case report study, we examined STK11 gene sequencing in a 42-year-old woman with mucocuta neous pigmentation and positive family history. Endoscopy and colonoscopy showed >1000 polyps throughout the stomach/colon (PJ-type hamartomas). The larger polyp in the stomach was resected and the small bowel imaging detected multiple jejunum/ileum small polyps...
2023: Gastroenterology and Hepatology From Bed to Bench
https://read.qxmd.com/read/37694873/-prepubertal-gynecomastia-at-the-debut-of-hereditary-tumors-predisposition-syndrome-clinical-case-reports
#33
JOURNAL ARTICLE
M A Kareva, L S Sozaeva, I S Chugunov, V A Peterkova, S D Mikhalina
Peutz-Jeghers Syndrome (Peutz-Jeghers Syndrome, PJS) refers to syndromes of hereditary tumor predisposition and is caused by pathological variants of the STK11 gene, leading to a defect in the synthesis of serine/threonine kinase 11 protein, which acts as a tumor suppressor.Clinical symptoms of the syndrome are combination of hamartomatous polyposis of the gastrointestinal tract and specific skin-mucosal hyperpigmentation. Also, this disease is characterized by a high risk of developing gastrointestinal and extra-intestinal tumors, including benign or malignant tumors of the reproductive system...
August 30, 2023: Problemy E̊ndokrinologii
https://read.qxmd.com/read/37675464/gastrointestinal-peutz-jeghers-syndrome-with-a-novel-frameshift-mutation-in-stk-11-gene-observed-by-magnifying-narrowband-imaging-endoscopy
#34
REVIEW
K Kawasaki, S Kawatoko, T Nagasue, J Umeno, T Torisu
No abstract text is available yet for this article.
September 7, 2023: Journal of Gastroenterology and Hepatology
https://read.qxmd.com/read/37669766/-management-of-the-peutz-jeghers-syndrome
#35
JOURNAL ARTICLE
Gabriela Möslein
The current evidence to guide management of Peutz-Jeghers Syndrome (PJS) is sparse. Here we summarise the European guidelines that were published in 2021 by the EHTG (European Hereditary Tumour Group), extended with new evidence on some aspects of clinical management that have been generated since then. EHTG with this revised guideline has updated and extended their own previous expert opinion guideline from 2010. For this purpose, all published literature was systematically screened and the level of evidence determined by using the GRADE methodology (Grading of Recommendations Assessment...
September 5, 2023: Zentralblatt Für Chirurgie
https://read.qxmd.com/read/37659672/risk-of-cancer-and-mortality-in-peutz-jeghers-syndrome-and-juvenile-polyposis-syndrome-a-nationwide-cohort-study-with-matched-controls
#36
JOURNAL ARTICLE
Anne Marie Jelsig, Laus Wullum, Tine Plato Kuhlmann, Lilian Bomme Ousager, Johan Burisch, John Gásdal Karstensen
No abstract text is available yet for this article.
December 2023: Gastroenterology
https://read.qxmd.com/read/37652652/updates-in-the-diagnosis-and-management-of-non-ampullary-small-bowel-polyposis
#37
REVIEW
Laura Lucaciu, Tomonori Yano, Jean Christophe Saurin
Advances in endoscopic instruments and techniques changed the strategy of diagnosis and management for non-ampullary small-bowel polyposis. In patients with Peutz-Jeghers syndrome, gastrointestinal surveillance using capsule endoscopy should commence no later than eight years old. Small bowel polyps >15 mm should be treated to prevent intussusception. Recently, endoscopic ischemic polypectomy and endoscopic reduction of intussusception were described. In patients with familial adenomatous polyposis, the first endoscopic screening using a lateral viewing and a longer endoscope to check the proximal jejunum should be performed around 25 years...
2023: Best Practice & Research. Clinical Gastroenterology
https://read.qxmd.com/read/37635018/-enteritis-cystica-profunda
#38
JOURNAL ARTICLE
Axel Dréau, Clémence Barthomeuf, Marion Balesdent, Mathurin Fumery, Charles Sabbagh, Denis Chatelain
Enteritis cystica profunda is a rare and benign disease defined as the invagination of the intestinal epithelium into the submucosa and more profound layers of intestinal wall leading to the formation of mucin-filled cystic spaces. We reported the case of a 45-year-old female, suffering from a Crohn's disease, with a Koenig's syndrome, diarrhea, abdominal pain and weight loss. The colonoscopy and the abdominopelvic scan showed a terminal ileal stenosis, with parietal calcifications. A surgical ileocecal resection was decided...
August 25, 2023: Annales de Pathologie
https://read.qxmd.com/read/37553843/surgical-polypectomy-for-small-bowel-hamartomas-in-peutz-jegher-syndrome
#39
Ashley Jenkin, Amy Millicent Yesheng Cao, Jayson Moloney
No abstract text is available yet for this article.
August 8, 2023: ANZ Journal of Surgery
https://read.qxmd.com/read/37515779/familial-intestinal-polyposis-and-device-assisted-enteroscopy-where-do-we-stand
#40
REVIEW
Giuseppe Losurdo, Milena Di Leo, Salvatore Rizzi, Ilaria Lacavalla, Francesca Celiberto, Andrea Iannone, Maria Rendina, Enzo Ierardi, Giuseppe Iabichino, Luca De Luca, Alfredo Di Leo
INTRODUCTION: Hereditary polyposis syndromes are a group of inherited disorders associated with a high risk of developing colorectal cancer. The best known ones are familial adenomatous polyposis (FAP), Peutz-Jeghers (PJS), juvenile polyposis and Cowden syndromes, as well as conditions predisposing to cancer, such as Lynch syndrome. Some of them are characterized by an increased risk of small bowel polyps occurrence. AREAS COVERED: Literature search in PubMed was performed in November 2022 and a narrative review was carried out...
July 29, 2023: Expert Review of Gastroenterology & Hepatology
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