2,398 results match your criteria Peutz-Jeghers Syndrome


Clinical characteristics and surgical outcome in children with intussusceptions secondary to pathologic lead points: retrospective study in a single institution.

Pediatr Surg Int 2019 Mar 14. Epub 2019 Mar 14.

Department of Pathology, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China.

Background: Intussusception secondary to pathologic lead points (PLPs) is a potential surgical emergency and almost all cases need surgery. The aim of this study was to evaluate the clinical manifestations, physical examinations and surgical outcomes of secondary intussusception (SI) caused by PLPs, as well as to improve the diagnosis and treatment of PLPs in children and infants.

Materials And Methods: We retrospectively reviewed the records of 83 children and infants who were diagnosed with intussusception secondary to PLPs in our institution. Read More

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http://dx.doi.org/10.1007/s00383-019-04471-8DOI Listing

Successful Endoscopic Reduction of an Ileocolonic Intussusception in an Adult With Peutz-Jeghers Syndrome.

Gastroenterology Res 2019 Feb 26;12(1):40-42. Epub 2019 Feb 26.

Division of Gastroenterology, The Warren Alpert Medical School of Brown University, Providence, RI, USA.

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by hamartomatous polyps throughout the gastrointestinal tract, mostly causing gastrointestinal bleeding and recurrent intestinal obstructions. Few intussusception related to PJS occurs reportedly in adults. Unlike pediatric cases almost all reported cases end up with surgical resection. Read More

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http://dx.doi.org/10.14740/gr1130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6396794PMC
February 2019
1 Read

Small bowel intussusception and concurrent sigmoid polyp with malignant transformation in Peutz-Jeghers syndrome.

J Surg Case Rep 2019 Jan 31;2019(1):rjz004. Epub 2019 Jan 31.

Department of General Surgery, King Abdulaziz University, Saudi Arabia.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant condition characterized by the association of gastrointestinal polyposis, mucocutaneous pigmentation and cancer predisposition McGarrity, Amos, Baker (Peutz-Jeghers Syndrome, , .). Intussusception and malignant polyps are not rare complications of PJS, where the lifetime risk of intussusception is 48% and the possibility of developing any cancer by age 65 years is 37% Kopacova, Tacheci, Rejchrt, Bures (Peutz-Jeghers syndrome: diagnostic and therapeutic approach. Read More

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http://dx.doi.org/10.1093/jscr/rjz004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6354681PMC
January 2019
2 Reads

Genomic Features and Clinical Management of Patients with Hereditary Pancreatic Cancer Syndromes and Familial Pancreatic Cancer.

Int J Mol Sci 2019 Jan 29;20(3). Epub 2019 Jan 29.

Department of Hepatobiliary and Pancreatic Oncology, National Cancer Center Hospital, Tokyo 1040045, Japan.

Pancreatic cancer (PC) is one of the most devastating malignancies; it has a 5-year survival rate of only 9%, and novel treatment strategies are urgently needed. While most PC cases occur sporadically, PC associated with hereditary syndromes or familial PC (FPC; defined as an individual having two or more first-degree relatives diagnosed with PC) accounts for about 10% of cases. Hereditary cancer syndromes associated with increased risk for PC include Peutz-Jeghers syndrome, hereditary pancreatitis, familial atypical multiple mole melanoma, familial adenomatous polyposis, Lynch syndrome and hereditary breast and ovarian cancer syndrome. Read More

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http://dx.doi.org/10.3390/ijms20030561DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6387417PMC
January 2019
2 Reads

Peutz-Jeghers Syndrome.

N Engl J Med 2019 Jan;380(5):472

R.G. Kar Medical College and Hospital, Kolkata, India

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http://dx.doi.org/10.1056/NEJMicm1806623DOI Listing
January 2019
1 Read

Novel germline STK11 variants and breast cancer phenotype identified in an Indian cohort of Peutz-Jeghers syndrome.

Hum Mol Genet 2019 Jan 25. Epub 2019 Jan 25.

Sarin Lab, Advanced Centre for Treatment Research and Education in Cancer-Tata Memorial Centre, Kharghar, Navi Mumbai, 410210, Maharashtra, India.

Peutz-Jeghers syndrome (PJS) caused by germline STK11 variants is a rare autosomal dominant cancer predisposition syndrome characterized by multiple gastrointestinal (GI) hamartomatous polyps, mucocutaneous pigmentation and a high inherited risk of developing GI, breast and other cancers. Despite GI and breast being the two most common PJS associated cancer sites, the immunohistochemical (IHC) and molecular features of these tumours in carriers of STK11 variant is not known. Detailed phenotyping including tumour IHC and its correlation with comprehensive STK11 genotyping by full gene sequencing followed by large genomic rearrangement analysis was performed in an Indian PJS cohort. Read More

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http://dx.doi.org/10.1093/hmg/ddz027DOI Listing
January 2019
2 Reads
6.393 Impact Factor

[Diagnosis and treatment for 46 cases of Peutz-Jeghers syndrome].

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2018 Dec;43(12):1323-1327

Department of Gastroenterology, the Seventh Medical Center of PLA General Hospital, Beijing 100700, China.

Objective: To explore the clinical features, pathological features, gene test results, diagnosis, treatment and prognosis of Peutz-Jeghers syndrome(PJS).
 Methods: We retrospectively analyzed clinical data of 46 hospitalized cases of PJS during 2007 and 2017.
 Results: All 46 patients had mucocutaneous melanin pigmentation and multiple gastrointestinal polyposis. Read More

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http://www.csumed.org/xbwk/CN/10.11817/j.issn.1672-7347.2018
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http://dx.doi.org/10.11817/j.issn.1672-7347.2018.12.007DOI Listing
December 2018
6 Reads

[Small Bowel Tumors and Polyposis: How to Approach and Manage?]

Authors:
Bong Min Ko

Korean J Gastroenterol 2018 Dec;72(6):277-280

Digestive Disease Center and Research Institute, Department of Internal Medicine, Soonchunhyang University College of Medicine, Bucheon, Korea.

Although small bowel the mainly occupies the most part of the gastrointestinal tract, small intestine tumors are rare, insidious in clinical presentation, and frequently represent a diagnostic and management challenge. Small bowel tumors are generally classified as epithelial, mesenchymal, lymphoproliferative, or metastatic. Familial adenomatous polyposis and Peutz-Jeghers syndrome are the most common inherited intestinal polyposis syndromes. Read More

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http://dx.doi.org/10.4166/kjg.2018.72.6.277DOI Listing
December 2018
1 Read

Management of Peutz-Jeghers Syndrome in Children and Adolescents: A Position Paper From the ESPGHAN Polyposis Working Group.

J Pediatr Gastroenterol Nutr 2019 Mar;68(3):442-452

St Mark's Hospital Polyposis Registry, Harrow, UK.

Peutz-Jeghers syndrome (PJS) is a well-described inherited syndrome, characterized by the development of gastrointestinal polyps, and characteristic mucocutaneous freckling. Development of small bowel intestinal polyps may lead to intussusception in children may require emergency laparotomy with potential loss of bowel. Gastrointestinal polyps may lead to bleeding and anemia. Read More

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http://dx.doi.org/10.1097/MPG.0000000000002248DOI Listing
March 2019
8 Reads

Peutz-Jeghers syndrome: need for early screening.

BMJ Case Rep 2018 Dec 13;11(1). Epub 2018 Dec 13.

Department of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, Delhi, India.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant cancer-predisposing condition characterised by intestinal hamartomatous polyps and distinct melanin depositions in skin and mucosa. Small intestinal cancer in patients with PJS usually presents by the third decade. A 7-year-old-PJS boy presented with recurrent episodes of colicky abdominal pain and melena requiring repeated blood transfusions. Read More

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http://dx.doi.org/10.1136/bcr-2018-225076DOI Listing
December 2018

Current Approaches to Pancreatic Cancer Screening.

Am J Pathol 2019 Jan;189(1):22-35

Yale Center for Pancreatic Diseases, Yale School of Medicine, New Haven, Connecticut; Yale Center for Pancreatic Diseases, Department of Digestive Diseases, Yale School of Public Health, New Haven, Connecticut. Electronic address:

Pancreatic ductal adenocarcinoma (PDAC) has a 5-year survival rate of only 8% and is estimated to be the second leading cause of cancer-related deaths by 2021. Prior convention held that screening for PDAC would not be beneficial; however, a deeper understanding of the carcinogenesis pathway supports a potential window of opportunity among the target population. Screening for PDAC is not a standard practice among the general population because of its low incidence. Read More

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http://dx.doi.org/10.1016/j.ajpath.2018.09.013DOI Listing
January 2019
4 Reads

STK11 gene analysis reveals a significant number of splice mutations in Chinese PJS patients.

Cancer Genet 2019 Jan 30;230:47-57. Epub 2018 Nov 30.

Department of Gastroenterology, Airforce Specialty Medical Center of PLA, 30 Fucheng Rd., Beijing 100142, China. Electronic address:

Background: The combination of direct sequencing and multiple ligation-dependent probe amplification (MLPA) has resulted in an 80% detection rate of serine/threonine kinase 11 (STK11) gene mutations in Peutz-Jeghers syndrome (PJS); however, this rate varies in different ethnicities.

Aims: To test the efficacy of the combination in Chinese patients with PJS.

Methods: PJS probands visiting our center during one year were enrolled. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.11.008DOI Listing
January 2019
3 Reads

Possible hints and pitfalls in diagnosing Peutz-Jeghers syndrome.

J Pediatr Endocrinol Metab 2018 Dec;31(12):1381-1386

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

Background Peutz-Jeghers syndrome (PJS) is characterized by gastrointestinal polyposis, mucocutaneous pigmentation and cancer predisposition. Patients with PJS can develop large calcifying Sertoli cell tumors (LCSTs). Case presentation A patient presented at 3 years of age with delayed development, hypermobility and later also with tall stature and advanced bone age. Read More

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http://www.degruyter.com/view/j/jpem.ahead-of-print/jpem-201
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http://dx.doi.org/10.1515/jpem-2018-0265DOI Listing
December 2018
15 Reads

[Dermal Clues to Systemic Diseases].

Dtsch Med Wochenschr 2018 Nov 15;143(23):1690-1699. Epub 2018 Nov 15.

Many systemic diseases go along with dermal involvement. Only a few of systemic diseases show characteristic skin derangements directly leading to the diagnosis of the underlying disease. Ten of these entities are described within this article. Read More

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http://www.thieme-connect.de/DOI/DOI?10.1055/a-0569-3822
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http://dx.doi.org/10.1055/a-0569-3822DOI Listing
November 2018
17 Reads

Underwater endoscopic mucosal resection of a large jejunal polyp by single-balloon enteroscopy in a patient with Peutz-Jeghers syndrome.

Dig Liver Dis 2019 01 20;51(1):170-172. Epub 2018 Aug 20.

University Division of Gastroenterology, Department of Medical Sciences, University of Turin, City of Health and Science, Turin, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S15908658183089
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http://dx.doi.org/10.1016/j.dld.2018.08.017DOI Listing
January 2019
7 Reads

Clinical and Genetic Study of Children With Peutz-Jeghers Syndrome Identifies a High Frequency of STK11 De Novo Mutation.

J Pediatr Gastroenterol Nutr 2019 Feb;68(2):199-206

Department of Gastroenterology.

Objectives: The present study aims to identify the genotype-phenotype correlation in children with Peutz-Jeghers Syndrome (PJS) through the analysis of STK11 gene mutations in the context of clinical and pathological characteristics.

Method: In this observational cohort study, the clinical characteristics of 18 families diagnosed with pediatric PJS were collected. Genomic DNA from the peripheral blood of affected children and their family members was collected. Read More

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http://dx.doi.org/10.1097/MPG.0000000000002166DOI Listing
February 2019
14 Reads

Asymptomatic Gastric Giant Polyp in a Boy with Peutz-Jeghers Syndrome Presented with Multiple Café Au Lait Traits.

Case Rep Surg 2018 19;2018:6895974. Epub 2018 Sep 19.

Pediatric Surgery Department, Penteli Children's Hospital, Ippokratous 8, Penteli 15236, Greece.

We describe an asymptomatic case of PJS in a six-year-old boy with café au lait spots in several parts of his body, a large gastroduodenal polyp, two polyps near the ampulla of Vater, and another in the jejunum. This patient shows some unique aspects of PJS. No other such large gastric polyp in a Peutz-Jeghers child is reported in the literature. Read More

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http://dx.doi.org/10.1155/2018/6895974DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169222PMC
September 2018
3 Reads

Scalp metastases as first presentation of pulmonary adenocarcinomas: a case report.

Onco Targets Ther 2018 21;11:6147-6151. Epub 2018 Sep 21.

Department of Dermatology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai 200072, People's Republic of China,

Cutaneous metastasis from primary visceral malignancy is a relatively uncommon clinical entity, with a reported incidence ranging from 0.22% to 12% of all malignancies. Here we report a 64-year-old asymptomatic female patient with Peutz-Jeghers syndrome presenting with multiple scalp metastases as the initial manifestation secondary to lung adenocarcinoma. Read More

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https://www.dovepress.com/scalp-metastases-as-first-presenta
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http://dx.doi.org/10.2147/OTT.S174577DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6160265PMC
September 2018
19 Reads

Mystery behind labial and oral melanotic macules: Clinical, dermoscopic and pathological aspects of Laugier-Hunziker syndrome.

World J Clin Cases 2018 Sep;6(10):322-334

Department of Oral Medicine, Nanjing Stomatological Hospital, Medical School of Nanjing University, Nanjing 210008, Jiangsu Province, China.

Labial and oral melanotic macules are commonly encountered in a broad range of conditions ranging from physiologic pigmentation to a sign of an underlying life-threatening disease. Although Laugier-Hunziker syndrome (LHS) shares some features of labial and oral pigmentation with a variety of conditions, it is a benign and acquired condition, frequently associated with longitudinal melanonychia. Herein, the demographic, clinical, dermoscopic, and pathological aspects of LHS were reviewed comprehensively. Read More

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http://dx.doi.org/10.12998/wjcc.v6.i10.322DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6163135PMC
September 2018
3 Reads

Familial Pancreatic Cancer.

Oncol Res Treat 2018 28;41(10):611-618. Epub 2018 Sep 28.

Familial pancreatic cancer accounts for 10% of all patients with pancreatic cancer. Because the 5-year survival rate of pancreatic cancer is only 7%, screening programs for high-risk individuals are essential and might be advantageous. Pancreatic ductal adenocarcinoma mostly shows symptoms at an advanced state and treatment is not efficient enough to cure most patients. Read More

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https://www.karger.com/Article/FullText/493473
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http://dx.doi.org/10.1159/000493473DOI Listing
September 2018
5 Reads

Double-balloon enteroscopy for pediatric patients: Application and feasibility evaluation in a medical center in northern Taiwan.

J Formos Med Assoc 2019 Jan 26;118(1 Pt 2):341-346. Epub 2018 Sep 26.

Department of Gastroenterology and Hepatology, Linkou Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan; Taiwan Association for the Study of Small Intestinal Diseases (TASSID), Taoyuan, Taiwan. Electronic address:

Background/purpose: The diagnostic and therapeutic benefits of double-balloon enteroscopy (DBE) in adults are established, but few data are available on pediatric patients. The aim of this study was to evaluate the clinical efficacy and safety of DBE in pediatric patients in Taiwan.

Methods: From April 2005 to September 2015, DBE procedures performed for diagnosis or therapy of small-bowel disease in children less than 18 years of age at Linkou Chang Gung Memorial Hospital, Taiwan were evaluated. Read More

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http://dx.doi.org/10.1016/j.jfma.2018.05.014DOI Listing
January 2019
4 Reads
1.700 Impact Factor

[Peutz-Jegher syndrome presenting with intussusception].

Laeknabladid 2018 Oktober;104(10):439-441

Surgical unit at Landspítali, University Hospital, Iceland.

In this case report we describe a patient with a confirmed diagnosis of Peutz-Jegher syndrome. A diagnosis made from a positive tissue sample from the small bowels and characteristic hyperpigmentation on the patient's lips. This particular patient wasn't diagnosed till he got intussusception which required an operation. Read More

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http://dx.doi.org/10.17992/lbl.2018.10.200DOI Listing
January 2019
1 Read

Minimal deviation adenocarcinoma (adenoma malignum) of the uterine cervix: clinicopathological analysis of 17 cases.

Obstet Gynecol Sci 2018 Sep 28;61(5):590-597. Epub 2018 Aug 28.

Comprehensive Gynecologic Cancer Center, Department of Obstetrics and Gynecology, CHA Bundang Medical Center, CHA University, Seongnam, Korea.

Objective: The aim of this study was to evaluate the clinicopathological features of minimal deviation adenocarcinoma (MDA) and to analyze its prognostic factors.

Methods: We retrospectively analyzed the medical records of 17 patients who were diagnosed with MDA at a single institution between January 2005 and December 2015.

Results: The median age of the patients was 47. Read More

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http://dx.doi.org/10.5468/ogs.2018.61.5.590DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6137015PMC
September 2018
2 Reads

LKB1 loss is associated with glutathione deficiency under oxidative stress and sensitivity of cancer cells to cytotoxic drugs and γ-irradiation.

Biochem Pharmacol 2018 Oct 15;156:479-490. Epub 2018 Sep 15.

Istituto Oncologico Veneto IOV - IRCCS, Padova, Italia. Electronic address:

The liver kinase B1 (LKB1) gene is a tumor suppressor associated with the hereditary Peutz-Jeghers syndrome and frequently mutated in non-small cell lung cancer and in cervical cancer. Previous studies showed that the LKB1/AMPK axis is involved in regulation of cell death and survival under metabolic stress. By using isogenic pairs of cancer cell lines, we report here that the genetic loss of LKB1 was associated with increased intracellular levels of total choline containing metabolites and, under oxidative stress, it impaired maintenance of glutathione (GSH) levels. Read More

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http://dx.doi.org/10.1016/j.bcp.2018.09.019DOI Listing
October 2018
1 Read

Differential diagnosis of solitary gastric Peutz-Jeghers-type polyp with stomach cancer: a case report.

Int J Surg Case Rep 2018 10;51:261-264. Epub 2018 Sep 10.

Department of Gastroenterological Surgery, Showa General Hospital, Japan.

Introduction: Solitary Peutz-Jeghers-type polyps of the stomach are extremely rare. They are defined as unique polyps that are not associated with Peutz-Jeghers syndrome (PJS).

Presentation Of Case: A 37-year-old woman presented at our hospital with anemia and epigastric discomfort. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22102612183036
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http://dx.doi.org/10.1016/j.ijscr.2018.09.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6139994PMC
September 2018
15 Reads

Rectal cancer developing from an anastomotic site 18 years after resection due to intussusception caused by Peutz-Jeghers polyposis in a 31-year-old man: a case report.

Surg Case Rep 2018 Sep 5;4(1):110. Epub 2018 Sep 5.

Department of Coloproctological Surgery, Japanese Red Cross Medical Center, 4-1-22, Hiro-o, Shibuya-ku, Tokyo, 150-8935, Japan.

Background: Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by hamartomatous polyposis of the gastrointestinal tract. It is associated with a high risk of malignancy in the gastrointestinal tract, as well as in other organs. We report a case of colon cancer at the anastomotic site that occurred 18 years after high anterior resection of the rectum for intussusception caused by Peutz-Jeghers polyposis. Read More

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https://surgicalcasereports.springeropen.com/articles/10.118
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http://dx.doi.org/10.1186/s40792-018-0519-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6125262PMC
September 2018
11 Reads

Extraovarian sex cord tumor with annular tubules discovered arising from a leiomyoma.

Gynecol Oncol Rep 2018 Nov 2;26:17-20. Epub 2018 Jul 2.

Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, San Antonio Military Medical Center, United States.

Background: Sex cord tumors with annular tubules (SCTAT) are a rare (2%) subtype of ovarian sex cord-stromal tumor. SCTATs are usually cured at time of diagnosis by surgical resection with an oophorectomy. SCTATs have a 100%(disease related) five-year survival. Read More

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http://dx.doi.org/10.1016/j.gore.2018.06.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6106712PMC
November 2018
9 Reads

Must Peutz-Jeghers syndrome patients have the gene mutation? A case report and review of the literature.

World J Clin Cases 2018 Aug;6(8):224-232

Department of General Surgery, Air Force General Hospital of Chinese PLA, Beijing 100142, China.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disease, which is characterized by mucocutaneous pigmentation and multiple gastrointestinal hamartoma polyps. The germline mutation of gene on chromosome 19p13.3 is considered to be the hereditary cause of PJS. Read More

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http://dx.doi.org/10.12998/wjcc.v6.i8.224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6107527PMC
August 2018
2 Reads

Chronic pancreatitis changes in high-risk individuals for pancreatic ductal adenocarcinoma.

Gastrointest Endosc 2018 Aug 24. Epub 2018 Aug 24.

Department of Gastroenterology and Hepatology, Stanford Hospital and Clinics, Stanford, California, USA.

Background And Aims: Pancreatic intraepithelial neoplasia is associated with chronic pancreatitis (CP) changes on EUS. The objective of this study was to determine whether CP changes were more common in high-risk individuals (HRIs) than in control subjects and whether these changes differed among higher-risk subsets of HRIs.

Methods: HRIs and control subjects were identified from an endoscopy database. Read More

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http://dx.doi.org/10.1016/j.gie.2018.08.029DOI Listing
August 2018
3 Reads

T-Cell Mutation Leads to GI Polyps.

Authors:

Cancer Discov 2018 Oct 24;8(10):1202-1203. Epub 2018 Aug 24.

Peutz-Jeghers syndrome, a cancer predisposition syndrome that causes benign gastrointestinal polyps, results from a germline mutation in a single allele of STK11, the gene that encodes for LKB1. Researchers established a possible mechanism for how a STK11 mutation in T cells could lead to polyps associated with the syndrome. Read More

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http://dx.doi.org/10.1158/2159-8290.CD-NB2018-115DOI Listing
October 2018

Targeted Genomic Profiling of Female Adnexal Tumors of Probable Wolffian Origin (FATWO).

Int J Gynecol Pathol 2018 Aug 21. Epub 2018 Aug 21.

Department of Pathology, Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada (J.M.) Department of Pathology (F.D., L.M.S., E.G., N.L.) Department of Pathology, Division of Women's and Perinatal Pathology (J.M., C.P.C., M.R.N., B.E.H.), Brigham and Women's Hospital Dana-Farber Cancer Institute (E.G., L.M.), Boston, Massachusetts Department of Pathology, Belfast Health and Social Care Trust, Belfast, Northern Ireland, UK (W.G.M.) Department of Pathology, Stanford University School of Medicine, Stanford, California (B.E.H.).

Female adnexal tumor of probable Wolffian origin (FATWO) is a rare gynecologic neoplasm of low-malignant potential presumed to be derived from mesonephric remnants in the upper female genital tract. Similarly, mesonephric remnants in the lower female genital tract are thought to be the origin for mesonephric carcinoma. Although the molecular alterations in mesonephric carcinoma have been recently reported, the pathogenesis of and molecular alterations in FATWO are not well understood. Read More

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http://Insights.ovid.com/crossref?an=00004347-900000000-9915
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http://dx.doi.org/10.1097/PGP.0000000000000545DOI Listing
August 2018
21 Reads

Update on small bowel surveillance in hereditary colorectal cancer syndromes.

Tumori 2018 Aug 17:300891618792461. Epub 2018 Aug 17.

Division of Gastroenterology and Digestive Endoscopy, Regina Elena National Cancer Institute, Rome, Italy.

Despite its rarity in the general population, small bowel adenocarcinoma risk is increased in individuals with hereditary colorectal cancer syndromes (HCCS). In the last decade, the advent of capsule endoscopy and device-assisted balloon enteroscopy procedures in patients with HCCS have allowed to investigate the whole small bowel, increasing the diagnostic yield of small bowel tumor. Nonetheless, there is a significant variability in the international guideline recommendations. Read More

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http://dx.doi.org/10.1177/0300891618792461DOI Listing
August 2018
17 Reads

The altered activity of P53 signaling pathway by STK11 gene mutations and its cancer phenotype in Peutz-Jeghers syndrome.

BMC Med Genet 2018 Aug 9;19(1):141. Epub 2018 Aug 9.

Department of Gastroenterology, Airforce General Hospital of PLA, Beijing, 100142, China.

Background: Peutz-Jeghers syndrome (PJS) is caused by mutations in serine/threonine kinase 11 (STK11) gene. The increased cancer risk has been connected to P53 pathway.

Methods: PJS probands with STK11 mutation were included in the function analysis. Read More

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http://dx.doi.org/10.1186/s12881-018-0626-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6085611PMC
August 2018
6 Reads

Laugier-Hunziker syndrome in endocrine clinical practice.

Endocrinol Diabetes Metab Case Rep 2018 26;2018. Epub 2018 Jul 26.

Departments of Endocrinology, Diabetes and Metabolic Diseases.

Laugier-Hunziker syndrome (LHS) is a rare, benign and acquired disorder characterized by hyperpigmentation of the oral cavity and lips along with longitudinal melanonychia. No underlying systemic abnormalities or malignant predisposition is associated with it. In everyday clinical practice, an endocrinologist encounters certain endocrine conditions (e. Read More

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http://dx.doi.org/10.1530/EDM-18-0025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6063988PMC
July 2018
20 Reads

Metachronous triple cancer associated with Peutz-Jeghers syndrome treated with curative surgery: a case report.

Surg Case Rep 2018 Aug 1;4(1):84. Epub 2018 Aug 1.

Department of Surgery, Onomichi General Hospital, 1-10-23, Onomichi, Hiroshima, 722-8508, Japan.

Background: Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by mucocutaneous pigmentation and hamartomatous gastrointestinal polyposis. It is well known that individuals with PJS are at an increased risk of cancer in a variety of organs.

Case Presentation: Here, we present a patient with PJS who achieved long-term survival by undergoing repeat curative surgery for metachronous triple cancer. Read More

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http://dx.doi.org/10.1186/s40792-018-0492-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6070452PMC
August 2018
8 Reads

Prepubertal gynaecomastia in a boy with Peutz-Jeghers syndrome: managing the aromatase overexpression.

J Pediatr Endocrinol Metab 2018 Oct;31(10):1149-1154

Paediatric Endocrinology Unit, Hospital Dona Estefânia - Centro Hospitalar Lisboa Central, Lisboa, Portugal.

Background Gynaecomastia, although rarely related to testicular tumours, in boys with Peutz-Jeghers syndrome (PJS) usually occurs due to large-cell calcifying Sertoli cell tumour (LCCSCT). Case presentation A 4-year-old boy, with a genetic diagnosis of PJS, presented gynaecomastia since the age of 2, associated with increased height velocity (HV). He exhibited bilateral breast enlargement (Tanner-B4) and a testicular volume of 4 mL. Read More

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http://dx.doi.org/10.1515/jpem-2017-0455DOI Listing
October 2018
6 Reads

LKB1 deficiency in T cells promotes the development of gastrointestinal polyposis.

Science 2018 07;361(6400):406-411

Goodman Cancer Research Centre, McGill University, Montreal, Quebec H3A 1A3, Canada.

Germline mutations in , which encodes the tumor suppressor liver kinase B1 (LKB1), promote Peutz-Jeghers syndrome (PJS), a cancer predisposition syndrome characterized by the development of gastrointestinal (GI) polyps. Here, we report that heterozygous deletion of in T cells (LT mice) is sufficient to promote GI polyposis. Polyps from LT mice, mice, and human PJS patients display hallmarks of chronic inflammation, marked by inflammatory immune-cell infiltration, signal transducer and activator of transcription 3 (STAT3) activation, and increased expression of inflammatory factors associated with cancer progression [interleukin 6 (IL-6), IL-11, and CXCL2]. Read More

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http://dx.doi.org/10.1126/science.aan3975DOI Listing
July 2018
3 Reads

Peutz-Jeghers Syndrome: A Very Rare Cause of Iron Deficiency Anemia

Turk J Haematol 2019 02 24;36(1):50-51. Epub 2018 Jul 24.

Şanlıurfa Training and Research Hospital, Clinic of Medical Genetics, Şanlıurfa, Turkey

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http://dx.doi.org/10.4274/tjh.galenos.2018.2018.0164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373507PMC
February 2019
13 Reads

The patients with Peutz-Jeghers syndrome have a high risk of developing cancer.

Turk J Surg 2018 3;34(2):162-164. Epub 2018 Jan 3.

Department of General Surgery, İzmir Katip Çelebi University Training and Research Hospital, İzmir, Turkey.

Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by mucocutaneous hyperpigmentation, and intestinal and extraintestinal multiple hamartomatous polyps. Development of gastrointestinal and extragastrointestinal cancer risk is markedly increased in patients with Peutz-Jeghers syndrome. We analyzed five patients from two families diagnosed with Peutz-Jeghers syndrome between 1999 and 2012. Read More

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http://dx.doi.org/10.5152/turkjsurg.2017.3241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6048649PMC
January 2018
2 Reads

Side-to-side bowel anastomosis mimicking intussusception in a 2-year-old child with Peutz-Jeghers syndrome.

Radiol Case Rep 2018 Aug 20;13(4):839-842. Epub 2018 Jun 20.

St. Christopher's Hospital for Children, 160 E. Erie Ave, Philadelphia, PA 19134, USA.

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited condition characterized by hamartomatous gastrointestinal polyps, mucocutaneous pigmentation, and a predisposition for malignancy. Most patients with PJS are diagnosed in the second or third decade of life, and commonly have intussusception as a complication. This report describes an unusual case of a 2-year-old male known to have PJS, who had previously developed a small bowel intussusception caused by a polyp requiring a very short segmental small bowel resection. Read More

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http://dx.doi.org/10.1016/j.radcr.2018.05.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6020095PMC
August 2018
4 Reads

Low-level parental mosaicism in an apparent de novo case of Peutz-Jeghers syndrome.

Fam Cancer 2019 01;18(1):109-112

Division of Anatomical Pathology, NSW Health Pathology (North), John Hunter Hospital, New Lambton, NSW, Australia.

We report the case of a female found to have mosaicism for mutation in the STK11 gene, with the mutant allele expressed in her gametes, evident by her affected offspring, and in her gastrointestinal tract demonstrated on an excised polyp analysed for diagnosis. Mosaicism for Peutz-Jeghers syndrome (PJS) has been reported in a small number of cases previously but a clinical presentation such as this has not previously been described. This finding of mosaicism was several years after initial investigations failed to identify the same STK11 mutation in this woman whose son was diagnosed with PJS at a young age. Read More

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http://dx.doi.org/10.1007/s10689-018-0093-3DOI Listing
January 2019
10 Reads

A novel STK11 missense mutation (c.346G > T) causing Peutz-Jeghers syndrome in a Chinese male with a negative family history.

Dig Liver Dis 2018 08 4;50(8):864-866. Epub 2018 Jun 4.

Department of Gastroenterology, Airforce General Hospital of PLA, Beijing, China. Electronic address:

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http://dx.doi.org/10.1016/j.dld.2018.05.020DOI Listing
August 2018
3 Reads

Underwater EMR with submucosal lift for a small intestinal polyp in a patient with Peutz-Jeghers syndrome.

VideoGIE 2018 Apr 22;3(4):119-120. Epub 2018 Feb 22.

Gastroenterology Department, Dudley Group Hospitals, Birmingham City University, Birmingham, UK.

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http://dx.doi.org/10.1016/j.vgie.2018.01.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6004507PMC
April 2018
2 Reads

Genome-wide surveys reveal polarity and cytoskeletal regulators mediate LKB1-associated germline stem cell quiescence.

BMC Genomics 2018 Jun 15;19(1):462. Epub 2018 Jun 15.

Department of Biology, McGill University, 1205 avenue Docteur Penfield, Montreal, Quebec, H3A 1B1, Canada.

Background: Caenorhabditis elegans can endure long periods of environmental stress by altering their development to execute a quiescent state called "dauer". Previous work has implicated LKB1 - the causative gene in the autosomal dominant, cancer pre-disposing disease called Peutz-Jeghers Syndrome (PJS), and its downstream target AMPK, in the establishment of germline stem cell (GSC) quiescence during the dauer stage. Loss of function mutations in both LKB1/par-4 and AMPK/aak(0) result in untimely GSC proliferation during the onset of the dauer stage, although the molecular mechanism through which these factors regulate quiescence remains unclear. Read More

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http://dx.doi.org/10.1186/s12864-018-4847-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6003023PMC
June 2018
3 Reads

Results of surveillance in individuals at high-risk of pancreatic cancer: A systematic review and meta-analysis.

United European Gastroenterol J 2018 May 8;6(4):489-499. Epub 2018 Jan 8.

Digestive and Liver Disease Unit, S. Andrea Hospital, Rome, Italy.

Background: Data on surveillance for pancreatic ductal adenocarcinoma (PDAC) in high-risk individuals (HRIs) with "familial pancreatic cancer" (FPC) and specific syndromes are limited and heterogeneous.

Objective: We conducted a systematic review and meta-analysis of PDAC surveillance studies in HRIs.

Methods: Prevalence of solid/cystic pancreatic lesions and of lesions considered a successful target of surveillance (proven resectable PDAC and high-grade precursors) was pooled across studies. Read More

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http://dx.doi.org/10.1177/2050640617752182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5987280PMC
May 2018
7 Reads

Testis-sparing surgery of unilateral testicular large-cell calcifying Sertoli cell tumor: a sporadic case.

Turk J Urol 2018 Jul;44(4):370-372

Department of Urology, Medeniyet University Göztepe Training and Research Hospital, İstanbul, Turkey.

Testicular sex cord-stromal tumors constitute a small portion of all types of testicular tumors. Only 1% of these tumors are pure Sertoli cell tumors. Sertoli cell tumors have three identified subgroups: large-cell calcifying (LCCSCT), sclerosing Sertoli cell and general type. Read More

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http://dx.doi.org/10.5152/tud.2017.69345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6016669PMC
July 2018
14 Reads

Crossed-clip strangulation for the management of small intestinal polyps in patients with Peutz-Jeghers syndrome.

Dig Endosc 2018 09 6;30(5):677. Epub 2018 Jun 6.

Division of Gastroenterology, Department of Medicine, Jichi Medical University, Shimotsuke, Japan.

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http://doi.wiley.com/10.1111/den.13189
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http://dx.doi.org/10.1111/den.13189DOI Listing
September 2018
8 Reads

Diagnostic Yield From Screening Asymptomatic Individuals at High Risk for Pancreatic Cancer: A Meta-analysis of Cohort Studies.

Clin Gastroenterol Hepatol 2019 Jan 30;17(1):41-53. Epub 2018 Jun 30.

Division of Gastroenterology and Hepatology, Mayo Clinic, Jacksonville, Florida. Electronic address:

Background & Aims: There have been few studies of abdominal imaging screening of individuals at high risk for pancreatic cancer (based on family history or genetic variants). We performed a meta-analysis of prospective cohort studies to determine the diagnostic yield and outcomes of abdominal imaging screening for asymptomatic individuals at high risk.

Methods: Through a systematic review of multiple electronic databases and conference proceedings through July 2017, we identified prospective cohort studies (>20 patients) of asymptomatic adults determined to be at high-risk of pancreatic cancer (lifetime risk >5%, including specific genetic-associated conditions) who were screened by endoscopic ultrasound (EUS) and/or magnetic resonance imaging (MRI) to detect pancreatic lesions. Read More

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http://dx.doi.org/10.1016/j.cgh.2018.04.065DOI Listing
January 2019
3 Reads