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Peutz Jeghers syndrome

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https://www.readbyqxmd.com/read/29141581/sanger-sequencing-in-exonic-regions-of-stk11-gene-uncovers-a-novel-de-novo-germline-mutation-c-962_963delcc-associated-with-peutz-jeghers-syndrome-and-elevated-cancer-risk-case-report-of-a-chinese-patient
#1
Zi-Ye Zhao, Yu-Liang Jiang, Bai-Rong Li, Fu Yang, Jing Li, Xiao-Wei Jin, Shou-Bin Ning, Shu-Han Sun
BACKGROUND: Peutz-Jeghers syndrome (PJS) is caused by mutations in the tumor suppressor gene, STK11, and is characterized by gastrointestinal hamartomas, melanin spots on the lips and the extremities, and an increased risk of developing cancer. CASE PRESENTATION: We reported an isolated PJS patient who died of colon cancer, whose blood sample was collected together with all the available family members'. The entire coding region of the STK11 gene was amplified by PCR and analyzed by Sanger sequencing, through which, a novel mutation, c...
November 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29132723/ovarian-sex-cord-stromal-tumours-and-their-mimics
#2
REVIEW
Robert H Young
Sex cord-stromal tumours of the ovary include many of the most morphologically intriguing ovarian neoplasms and albeit many of them are rare, they factor into the differential diagnosis more often than their frequency might suggest. The most common malignant form, the adult granulosa cell tumour, may grossly simulate various surface epithelial neoplasms. Microscopically, confusion with endometrioid carcinoma may occur because the cords and microfollicles of the granulosa cell tumour may be mimicked by endometrioid carcinoma and the latter may have pale nuclei with nuclear grooves...
November 10, 2017: Pathology
https://www.readbyqxmd.com/read/29101607/development-of-a-high-risk-pancreatic-screening-clinic-using-3-0%C3%A2-t-mri
#3
Chad A Barnes, Elizabeth Krzywda, Shannon Lahiff, Dena McDowell, Kathleen K Christians, Paul Knechtges, Parag Tolat, Mark Hohenwalter, Kulwinder Dua, Abdul H Khan, Douglas B Evans, Jennifer Geurts, Susan Tsai
Selective screening for pancreatic cancer (PC) has been proposed. We describe the establishment of a comprehensive multidisciplinary screening program using 3.0 T MRI. Criteria for screening included the presence of PC in: ≥ 2 first degree relatives (FDR), 1 FDR and 1 s degree relative (SDR), ≥ 3 any degree relatives (ADR), or any known hereditary cancer syndrome with increased PC risk. Imaging with 3.0 T MRI was performed routinely and endoscopic ultrasound was used selectively. Screening was completed in 75 patients (pts)...
November 3, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29095352/peutz-jegher-syndrome-with-endoscopic-polypectomy-for-subacute-biliary-obstruction
#4
Kok J Chan, S Y Ong, H W Foo, S Mahadeva, S Singaravel, W S Lee
No abstract text is available yet for this article.
October 31, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29043114/expression-of-stk11-gene-and-its-promoter-activity-in-mcf-control-and-cancer-cells
#5
Asma Alkaf, Abdulaziz Al-Jafari, Tanveer A Wani, Somaya Alqattan, Seema Zargar
Serine/threonine kinase gene (STK11) is identified as tumor suppressor gene whose mutation can lead to Peutz-Jeghers syndrome (PJS). STK11 is emerging as a multifunctional protein, it activates 14 different AMP-activated protein kinase (AMPK) family members, important in the regulation of cell polarity, cell cycle arrest, energy and hemostasis. Present study was designed to evaluate STK11 mRNA expression in MCF-7 cancer and MCF-10 normal breast cells lines. mRNA expression was studied by real-time PCR. Further, human STK11 promoter construct was fused to a luciferase reporter and transfected into both MCF-7 and MCF-10 cells to identify the promoter activity in these cells...
December 2017: 3 Biotech
https://www.readbyqxmd.com/read/29022902/differential-regulation-of-spermatogenic-process-by-lkb1-isoforms-in-mouse-testis
#6
Feifei Kong, Mei Wang, Xiaojing Huang, Qiuling Yue, Xiang Wei, Xiaowei Dou, Xiaoxu Peng, Yuanyuan Jia, Ke Zheng, Tinghe Wu, Jun Yan, Jing Li
Liver serine/threonine kinase B1 (LKB1) is a tumor suppressor associated with the pathogenesis of Peutz-Jeghers syndrome. Affected males are at increased risk of developing Sertoli cell tumors and display defective spermatogenesis. Male mice lacking the short isoform (Lkb1S) of Lkb1 were sterile and exhibited abnormal spermiogenesis. In addition to the short isoform, the long isoform of Lkb1 (Lkb1L) is also expressed in testis; however, the requirement of the long isoform for fertility and the functional difference between the isoforms remain unknown...
October 12, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28989141/melanotic-macule-in-conjunction-with-a-giant-cell-fibroma
#7
Samantha D Seitz, Thanhphuong N Dinh, Thomas Yh Yoon
INTRODUCTION: The aim of this study is to describe a case of a melanotic macule found in conjunction with a giant cell fibroma (GCF). For oral pigmented lesions without an identifiable etiologic factor, critical factors in determining the differential diagnosis are clinical history, symmetry, and uniformity of the lesions. Potential differential diagnosis includes racial pigmentation, endocrine disturbance, Peutz-Jeghers syndrome, trauma, hemochromatosis, oral malignant melanoma, or idiopathic etiology and melanotic macules...
October 1, 2017: Journal of Contemporary Dental Practice
https://www.readbyqxmd.com/read/28986664/a-23-nucleotide-deletion-in-stk11-gene-causes-peutz-jeghers-syndrome-and-malignancy-in-a-chinese-patient-without-a-positive-family-history
#8
Zi-Ye Zhao, Yu-Liang Jiang, Bai-Rong Li, Fu Yang, Jing Li, Xiao-Wei Jin, Shou-Bin Ning, Shu-Han Sun
BACKGROUND AND AIMS: Peutz-Jeghers syndrome (PJS) is an autosomal-dominant genetic disease caused by mutations in the tumor suppressor gene, STK11, which is characterized by gastrointestinal hamartomas, melanin spots on the lips and the extremities, and an increased risk of developing both gastrointestinal and extraintestinal malignancies. METHODS AND RESULTS: We treated a PJS patient without a positive family history, who possessed typical clinical manifestations including polyp canceration...
November 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28984338/synchronous-cervical-minimal-deviation-adenocarcinoma-gastric-type-adenocarcinoma-and-lobular-endocervical-glandular-hyperplasia-along-with-stil-in-peutz-jeghers-syndrome-eliciting-oncogenesis-pathways
#9
Azfar Neyaz, Nuzhat Husain, Manish Deodhar, Rohini Khurana, Saumya Shukla, Aditi Arora
We describe an unusual case of a Peutz-Jeghers syndrome associated with a composite synchronous cervical neoplasia comprising precursor "lobular endocervical glandular hyperplasia (LEGH)", "minimal deviation adenocarcinoma (MDA)" and "gastric-type adenocarcinoma (GTA)" along with a serous tubal intraepithelial lesion (STIL) in the right fallopian tube. A 24-year-old woman presented with a white mucoid discharge and bleeding per vaginum for one year. Histopathological evaluation showed MDA & GTA in FIGO grade III with pelvic lymph node metastasis despite a deceptively bland tumour morphology and low Ki-67 index, indicating an aggressive tumour course and poor prognosis...
October 6, 2017: Türk Patoloji Dergisi
https://www.readbyqxmd.com/read/28929791/small-bowel-intussusception-in-a-16-month-old-child-with-peutz-jeghers-syndrome
#10
Stephanie A Zacharias, Rajeev Prasad, Sean Ciullo, Mary G Mallon, Adrian Marinovich, Harpreet Pall
No abstract text is available yet for this article.
September 1, 2017: Clinical Pediatrics
https://www.readbyqxmd.com/read/28901964/the-role-of-the-surgical-pathologist-in-the-diagnosis-of-gastrointestinal-polyposis-syndromes
#11
Christophe Rosty
Polyps of the gastrointestinal tract are very common lesions and most frequently sporadic in nature. Some polyp subtypes are associated with rare hereditary polyposis syndromes, including juvenile polyposis syndrome, Peutz-Jeghers syndrome, and Cowden syndrome. However, many sporadic benign lesions of the gastrointestinal tract can mimic some of these syndromic hamartomatous polyps. The role of the surgical pathologist is to raise the possibility of a hereditary condition in case of suggestive polyp histology and to look for clinical information to support the suspected diagnosis...
September 8, 2017: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/28900777/an-exploration-of-genotype-phenotype-link-between-peutz-jeghers-syndrome-and-stk11-a-review
#12
REVIEW
Julian Daniell, John-Paul Plazzer, Anuradha Perera, Finlay Macrae
Peutz-Jeghers Syndrome (PJS) is an autosomal dominant hereditary polyposis syndrome. Clinical features include hamartomatous polyps, mucocutaneous pigmentation and an increased predisposition towards developing malignancy. Variants in STK11, a tumour suppressor gene, located on Chromosome 19, predispose to PJS. Peutz-Jeghers Syndrome is associated with increased rates of malignancy, particularly gastrointestinal. However, PJS is also associated with increased gynaecological, testicular and thyroid papillary malignancy...
September 12, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28894521/a-large-intracolonic-mass-in-a-patient-with-peutz-jeghers-syndrome
#13
Ran Wang, Xingshun Qi, Xiaodong Shao, Xiaozhong Guo
Peutz-Jeghers syndrome (PJS) is characterized by scattered black pigmentations on fingers and lips and multiple polyps in the gastrointestinal tract. Patients with PJS often have severe complications secondary to multiple large polyps. Herein, we present a young woman complicated with a large polyp in her colon without any clinical symptoms. We also emphasized the necessity of early diagnosis and treatment of multiple polyps in such patients.
July 2017: Middle East Journal of Digestive Diseases
https://www.readbyqxmd.com/read/28879469/pancreatic-cancer-screening
#14
REVIEW
Koushik K Das, Dayna Early
PURPOSE OF REVIEW: This review describes the rationale for pancreatic cancer screening, outlines groups that are at elevated risk for pancreatic cancer, and summarizes the relative risk in each setting. We also review the methods available for performing pancreatic cancer screening and the recommended screening intervals. RECENT FINDINGS: Several genetic mutations have been identified that increase the risk for pancreatic cancer. Most are rare, however, and at-risk individuals are most often those with a strong family history of pancreatic cancer (with multiple family members affected) but no identifiable genetic mutation...
December 2017: Current Treatment Options in Gastroenterology
https://www.readbyqxmd.com/read/28869103/clinical-manifestations-and-stk11-germline-mutations-in-taiwanese-patients-with-peutz-jeghers-syndrome
#15
Jy-Ming Chiang, Tse-Ching Chen
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. METHODS: Based on the Pathology Data Bank and the Colorectal Cancer Register, we collected their clinical data. The entire coding sequence of the STK11 gene was amplified and analyzed by sequencing using the genomic DNA. RESULTS: Fifteen patients diagnosed with PJS from 11 unrelated families were collected until 2015...
August 28, 2017: Asian Journal of Surgery
https://www.readbyqxmd.com/read/28842049/management-of-small-bowel-polyps-a-literature-review
#16
REVIEW
Rabia A de Latour, Saikiran M Kilaru, Seth A Gross
Despite the small bowel comprising 90% of the mucosal surface area of the gastrointestinal tract, it is a rare site for neoplasia and only accounts for a little over 3% of the tumors that arise in the digestive tract. Benign small bowel lesions include lipomas, lymphangiomas, leiomyomas, neurofibromas, nodular lymphoid hyperplasia and adenomas, many of which are precursors to malignant lesions. Several polyposis syndromes are associated with small bowel polyps as well, including familial adenomatous polyposis syndrome, lynch syndrome, Peutz-Jeghers syndrome, Cowden syndrome and juvenile polyposis syndrome...
August 2017: Best Practice & Research. Clinical Gastroenterology
https://www.readbyqxmd.com/read/28842047/evaluation-and-management-of-gastric-epithelial-polyps
#17
REVIEW
R Castro, P Pimentel-Nunes, M Dinis-Ribeiro
Gastric polyps include a wide spectrum of lesions with different histology and neoplastic potential. They are found in up to 6% of upper gastrointestinal endoscopy and are usually asymptomatic and incidentally diagnosed, being in the vast majority epithelial gastric polyps. Hyperplastic, fundic gland and adenomas are the most common types of gastric polyps and, although each type may have typical endoscopic appearances, they all must be sampled at the initial endoscopy for histological assessment. Also, the normal appearing gastric mucosa should be sampled to stage atrophic changes, rule out endoscopically non-visible dysplasia and to diagnose Helicobacter pylori...
August 2017: Best Practice & Research. Clinical Gastroenterology
https://www.readbyqxmd.com/read/28832082/synchronous-cervical-minimal-deviation-adenocarcinoma-gastric-type-adenocarcinoma-and-lobular-endocervical-glandular-hyperplasia-along-with-stil-in-peutz-jeghers-syndrome-eliciting-oncogenesis-pathways
#18
Azfar Neyaz, Nuzhat Husain, Manish Deodhar, Rohini Khurana, Saumya Shukla, Aditi Arora
We describe an unusual case of a Peutz-Jeghers syndrome associated with a composite synchronous cervical neoplasia comprising precursor "lobular endocervical glandular hyperplasia (LEGH)", "minimal deviation adenocarcinoma (MDA)" and "gastric-type adenocarcinoma (GTA)" along with a serous tubal intraepithelial lesion (STIL) in the right fallopian tube. A 24-year-old woman presented with a white mucoid discharge and bleeding per vaginum for one year. Histopathological evaluation showed MDA & GTA in FIGO grade III with pelvic lymph node metastasis despite a deceptively bland tumour morphology and low Ki-67 index, indicating an aggressive tumour course and poor prognosis...
2017: Türk Patoloji Dergisi
https://www.readbyqxmd.com/read/28801289/-lkb1-regulates-epithelial-mesenchymal-transition-in-peutz-jeghers-hamartoma-and-intestinal-epithelial-cells
#19
Chao Zhong, Liang Peng, Ran Li, Jing Chen, Xin-Qi Chen, Di Zeng, Xiao-Ping Xu, Zhi-Qing Wang, Chu-di Chen, Ya-Dong Wang, Ai-Min Li, Si-de Liu, Bao-Ping Wu
OBJECTIVE: To investigate the molecular mechanism by which LKB1 regulates epithelial-mesenchymal transition (EMT) in Peutz-Jeghers hamartoma and intestinal epithelial cells. METHODS: Immunohistochemistry was used to detect gene expression of LKB1, E-cadherin, and vimentin in 20 hamartoma tissues and 10 normal intestinal tissues, and collagen fiber deposition was analyzed using Masson trichrome staining. Normal intestinal epithelial NCM460 cells were transfected with LKB1 shRNA plasmid or negative control via lentiviral vectors, and the role of LKB1 in cell polarization and migration were determined using CCK8 and Transwell assays...
August 20, 2017: Nan Fang Yi Ke da Xue Xue Bao, Journal of Southern Medical University
https://www.readbyqxmd.com/read/28768368/triple-site-intussusceptions-in-peutz-jeghers-syndrome
#20
Amit Singh, Shivaji H Vidyarthi, Neena Kasliwal, Shweta Khandelwal, Vivek K Sharma
No abstract text is available yet for this article.
August 2, 2017: ANZ Journal of Surgery
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