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Peutz Jeghers syndrome

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https://www.readbyqxmd.com/read/29310834/genetic-analysis-and-clinical-description-of-greek-patients-with-peutz-jeghers-syndrome-creation-of-a-national-registry
#1
Florentia Fostira, Vasiliki Mollaki, George Lypas, George Alexandrakis, Efstratios Christianakis, Maria Tzouvala, Eirini Zacharopoulou, Despoina Kalfakakou, Irene Konstantopoulou, Drakoulis Yannoukakos
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder caused by germline mutations in the STK11 tumor suppressor gene. PJS patients face a cumulative cancer risk as high as 93% for all sites combined. The present study reports the spectrum of STK11 mutations in eight families with clinical diagnosis of PJS, summarizes the clinical characteristics of sixteen mutation carriers and launches a National Registry for PJS in Greece. STK11 loss-of-function (LoF) mutations were detected in 87.5% of index patients...
January 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29309780/pancreatic-cancer-screening-in-high-risk-individuals-with-germline-genetic-mutations
#2
Tomas DaVee, Emmanuel Coronel, Charilaos Papafragkakis, Sayam Thaiudom, Gandhi Lanke, Raja C Chakinala, Graciela M Nogueras González, Manoop S Bhutani, William A Ross, Brian R Weston, Jeffrey H Lee
BACKGROUND AND AIMS: Pancreas cancer (PC) is a deadly disease, which is most commonly diagnosed at an incurable stage. Different high-risk genetic variants and cancer syndromes increase the lifetime risk of developing PC. This study aims to assess the yield of initial PC screening in patients with high-risk germline mutations. METHODS: Asymptomatic adults underwent PC screening by EUS, MRI or CT during a 10-year period, and were retrospectively identified. High-risk individuals were defined as carrying germline mutations in BRCA1, BRCA2, p53 (Li-Fraumeni), STK11 (Peutz-Jeghers), MSH2 (Lynch), ATM (ataxia-telangiectasia), or APC (familial adenomatous polyposis)...
January 5, 2018: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/29245219/a-novel-germline-mutation-c-a527g-in-stk11-gene-causes-peutz-jeghers-syndrome-in-a-chinese-girl-a-case-report
#3
Zi-Ye Zhao, Yu-Liang Jiang, Bai-Rong Li, Fu Yang, Jing Li, Xiao-Wei Jin, Shu-Han Sun, Shou-Bin Ning
RATIONALE: Peutz-Jeghers syndrome (PJS) is a Mendelian autosomal dominant disease caused by mutations in the tumor suppressor gene, serine/threonine kinase 11 (STK11). The features of this syndrome include gastrointestinal (GI) hamartomas, melanin spots on the lips and the extremities, and an increased risk of developing cancer. Early onset of disease is often characterized by mucocutaneous pigmentation and intussusception due to GI polyps in childhood. PATIENT CONCERNS: A girl with a positive family history grew oral pigmentation at 1 and got intussusception by small bowel hamartomas at 5...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29245215/a-giant-and-extensive-solitary-peutz-jeghers-type-polyp-in-the-antrum-of-stomach-case-report
#4
Bai-Cang Zou, Feng-Fan Wang, Gang Zhao, Xiao-Lan Lu, Li Zhang, Ping Zhao, Hai-Tao Shi, Bin Qin, Xiao-Dan Guo, Jing Zhang
RATIONALE: A solitary Peutz-Jeghers-type polyp is a hamartomatous polyp which without either mucocutaneous pigmentation or a family history of Peutz-Jeghers syndrome (PJS). It can occur in all of the gastrointestinal tract, but it is extremely rare in the stomach. PATIENT CONCERNS: A 53-year-old man was admitted to the local hospital with left upper abdominal pain lasting 2 weeks. A gastroscopy showed a giant and extensive bulging lesion on the greater curvature and posterior and anterior walls of the gastric antrum, involving three-quarters of the gastric wall...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29233547/the-developing-spectrum-of-gastric-type-cervical-glandular-lesions
#5
REVIEW
Karen L Talia, W Glenn McCluggage
Adenocarcinoma of the cervix is less common than squamous cell carcinoma, although its relative prevalence is increasing. Oncogenic (high-risk) human papillomavirus (HPV) infection is implicated in the development of approximately 90% of all cervical adenocarcinomas. Of the remaining non-HPV associated tumours, the most frequent is gastric-type adenocarcinoma (GAS), which is recognised by the World Health Organization as a form of mucinous adenocarcinoma of the cervix. Minimal deviation adenocarcinoma (MDA) of mucinous type (adenoma malignum) is considered an extremely well differentiated variant of GAS and is encompassed within the category of GAS...
December 9, 2017: Pathology
https://www.readbyqxmd.com/read/29202476/stromal-lkb1-deficiency-leads-to-gastrointestinal-tumorigenesis-involving-the-il-11-jak-stat3-pathway
#6
Saara Ollila, Eva Domènech-Moreno, Kaisa Laajanen, Iris Pl Wong, Sushil Tripathi, Nalle Pentinmikko, Yajing Gao, Yan Yan, Elina H Niemelä, Timothy C Wang, Benoit Viollet, Gustavo Leone, Pekka Katajisto, Kari Vaahtomeri, Tomi P Mäkelä
Germline mutations in the gene encoding tumor suppressor kinase LKB1 lead to gastrointestinal tumorigenesis in Peutz-Jeghers syndrome (PJS) patients and mouse models; however, the cell types and signaling pathways underlying tumor formation are unknown. Here, we demonstrated that mesenchymal progenitor- or stromal fibroblast-specific deletion of Lkb1 results in fully penetrant polyposis in mice. Lineage tracing and immunohistochemical analyses revealed clonal expansion of Lkb1-deficient myofibroblast-like cell foci in the tumor stroma...
December 4, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29169633/pathology-and-genetics-of-hereditary-colorectal-cancer
#7
REVIEW
Huiying Ma, Lodewijk A A Brosens, G Johan A Offerhaus, Francis M Giardiello, Wendy W J de Leng, Elizabeth A Montgomery
Colorectal cancer (CRC) accounts for over 8% of all deaths annually worldwide. Between 2 and 5% of all CRCs occur due to inherited syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYH-associated polyposis, Peutz-Jeghers syndrome, juvenile polyposis and Cowden/PTEN hamartoma syndrome. In addition, serrated polyposis is a clinically defined condition characterised by multiple colorectal serrated polyps and an increased risk of CRC but the genetics are not known. In most hereditary CRC syndromes, polyps undergo carcinogenesis, but the exact route to carcinoma seems to differ between the conditions...
November 20, 2017: Pathology
https://www.readbyqxmd.com/read/29168285/peutz-jeghers-syndrome-pjs
#8
Gati Dhroove
No abstract text is available yet for this article.
November 22, 2017: International Journal of Clinical Practice
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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...
January 2018: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/28900777/an-exploration-of-genotype-phenotype-link-between-peutz-jeghers-syndrome-and-stk11-a-review
#20
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
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