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Peutz Jeghers

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https://www.readbyqxmd.com/read/27910069/lkb1-as-a-tumor-suppressor-in-uterine-cancer-mouse-models-and-translational-studies
#1
Christopher G Peña, Diego H Castrillón
The LKB1 tumor suppressor was identified in 1998 as the gene mutated in the Peutz-Jeghers Syndrome (PJS), a hereditary cancer predisposition characterized by gastrointestinal polyposis and a high incidence of cancers, particularly carcinomas, at a variety of anatomic sites including the gastrointestinal tract, lung, and female reproductive tract. Women with PJS have a high incidence of carcinomas of the uterine corpus (endometrium) and cervix. The LKB1 gene is also somatically mutated in human cancers arising at these sites...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27894106/prader-willi-syndrome-due-to-an-unbalanced-de-novo-translocation-t-15-19-q12-p13-3
#2
Vy Dang, Abhilasha Surampalli, Ann M Manzardo, Stephanie Youn, Merlin G Butler, June-Anne Gold, Virginia E Kimonis
Prader-Willi syndrome (PWS) is a complex, multisystem genetic disorder characterized by endocrine, neurologic, and behavioral abnormalities. We report the first case of an unbalanced de novo reciprocal translocation of chromosomes 15 and 19, 45,XY,-15,der(19)t(15;19)(q12;p13.3), resulting in monosomy for the PWS critical chromosome region. Our patient had several typical features of PWS including infantile hypotonia, a poor suck and feeding difficulties, tantrums, skin picking, compulsions, small hands and feet, and food seeking, but not hypopigmentation, a micropenis, cryptorchidism or obesity as common findings seen in PWS at the time of examination at 6 years of age...
November 29, 2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27873740/response-to-the-anastrozole-treatment-in-a-case-with-peutz-jeghers-syndrome-who-was-detected-to-have-large-cell-calcifying-sertoli-cell-tumor-and-developed-pre-pubertal-gynecomastia
#3
Merve Koç Yekedüz, Zeynep Şıklar, Berk Burgu, Zarife Kuloğlu, Pınar Kocaay, Emine Çamtosun, Mehmet İsakoca, Aydan Kansu, Tarkan Soygür, Merih Berberoğlu
Peutz-Jeghers Syndrome (PJS) is inherited as an autosomal dominant trait which is characterized by multiple gastrointestinal hamartomatous polyps, mucocutaneous pigmentation, and an increased risk of neoplasm. Large Cell Calcifying Sertoli Cell Tumor (LCCSCT) is a kind of sex cord-stromal tumor, often bilateral and multifocal, accounting for 0.4 -1.5% of entire testicular tumors which may co-exist with PJS and is characterized radiologically by calcification foci within the testes. Surgical treatment options for this tumor range from testis-preserving surgery to radical orchiectomy...
November 22, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27858560/ovarian-sex-cord-stromal-tumors
#4
Kris Ann P Schultz, Anne K Harris, Dominik T Schneider, Robert H Young, Jubilee Brown, David M Gershenson, Louis P Dehner, D Ashley Hill, Yoav H Messinger, A Lindsay Frazier
Ovarian sex cord-stromal tumors are clinically significant heterogeneous tumors that include several pathologic types. These tumors are often found in adolescents and young adults and can present with hormonal manifestations as well as signs and symptoms of a pelvic mass. Serum tumor markers may assist in preoperative diagnosis and surveillance. Several subtypes are associated with genetic predisposition, including those observed in patients with Peutz-Jegher syndrome. Recent studies have elucidated the relationship between Sertoli-Leydig cell tumors and DICER1 mutations...
October 2016: Journal of Oncology Practice
https://www.readbyqxmd.com/read/27821076/three-novel-mutations-of-stk11-gene-in-chinese-patients-with-peutz-jeghers-syndrome
#5
Hu Tan, Libin Mei, Yanru Huang, Pu Yang, Haoxian Li, Ying Peng, Chen Chen, Xianda Wei, Qian Pan, Desheng Liang, Lingqian Wu
BACKGROUND: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder characterized by gastrointestinal (GI) hamartomatous polyps, mucocutaneous hyperpigmentation, and an increased risk of cancer. Mutations in the serine-threonine kinase 11 gene (SKT11) are the major cause of PJS. CASE PRESENTATION: Blood samples were collected from six PJS families including eight patients. Mutation screening of STK11 gene was performed in these six families by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) assay...
November 8, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27813081/genetics-and-genomics-of-ovarian-sex-cord-stromal-tumors
#6
REVIEW
Peter J Fuller, Dilys Leung, Simon Chu
Ovarian sex cord-stromal tumors represent ~8% of malignant ovarian tumors. The most common are granulosa cell tumors (GCT) which account for ~90% of malignant sex cord-stromal tumors. Recent studies have unravelled the key genomic and genetic events contributing to their pathogenesis. Sex cord-stromal tumors are found in the hereditary syndromes: Peutz-Jeghers Syndrome, Ollier disease and Maffucci syndrome, and DICER1 syndrome. Genomic studies have largely been limited to GCT where a number of recurring chromosomal abnormalities (monsomy and trisomy) have been identified although their contribution to pathogenesis remains unclear...
November 4, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27801954/the-who-2016-classification-of-testicular-non-germ-cell-tumours-a-review-and-update-from-the-international-society-of-urological-pathology-testis-consultation-panel
#7
REVIEW
Muhammad T Idrees, Thomas M Ulbright, Esther Oliva, Robert H Young, Rodolfo Montironi, Lars Egevad, Daniel Berney, John R Srigley, Jonathan I Epstein, Satish K Tickoo
The World Health Organization (WHO) released a new tumour classification for the genitourinary system in early 2016 after consensus by pathologists with expertise in these organs. It utilized the framework of the 2004 classification and incorporated the most up-to-date information concerning these tumours. In testicular tumours, the majority of the changes occurred in the nomenclature and classification of the germ cell tumours; however, several modifications were also initiated for the non-germ cell tumours...
November 1, 2016: Histopathology
https://www.readbyqxmd.com/read/27798096/chronic-pancreatitis-and-lipomatosis-are-associated-with-defective-function-of-ciliary-genes-in-pancreatic-ductal-cells
#8
Cécile Augereau, Louis Collet, Pierfrancesco Vargiu, Carmen Guerra, Sagrario Ortega, Frédéric P Lemaigre, Patrick Jacquemin
Genetic diseases associated with defects in primary cilia are classified as ciliopathies. Pancreatic lesions and ductal cysts are found in patients with ciliopathic polycystic kidney diseases suggesting a close connection between pancreatic defects and primary cilia. Here we investigate the role of two genes whose deletion is known to cause primary cilium defects, namely Hnf6 and Lkb1, in pancreatic ductal homeostasis. We find that mice with postnatal duct-specific deletion of Hnf6 or Lkb1 show duct dilations...
October 7, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27766382/-cervical-cancer-update-on-morphology
#9
L-C Horn, C E Brambs, R Handzel, S Lax, I Sändig, D Schmidt, K Schierle
The World Health Organization (WHO) classification from 2014 differentiates between different subtypes of mucinous adenocarcinoma of the uterine cervix. A gastric subtype was recently described that showed no association with high-risk human papillomavirus (HPV) infections, has a poor prognosis, is mainly diagnosed in women of Asian origin and can occur in patients with Peutz-Jeghers syndrome. Although no clear grading system has been recommended in the WHO classification, it is likely that grading of adenocarcinomas of the uterine cervix will partly be based on the different patterns of invasion...
October 20, 2016: Der Pathologe
https://www.readbyqxmd.com/read/27721366/genetic-screening-and-analysis-of-lkb1-gene-in-chinese-patients-with-peutz-jeghers-syndrome
#10
Chunyan Chen, Xiaomei Zhang, Deqiang Wang, Fangyu Wang, Jian Pan, Zhenkai Wang, Chang Liu, Lin Wu, Heng Lu, Nan Li, Juan Wei, Hui Shi, Haijun Wan, Ming Zhu, Senqing Chen, Yun Zhou, Xin Zhou, Liu Yang, Jiong Liu
BACKGROUND Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic disease. It severely decreases patient quality of life and leads elevated cancer risk. Germline mutation of LKB1 is the leading cause of familial PJS. MATERIAL AND METHODS To characterize the germline mutation of LKB1 gene in Chinese familial and sporadic PJS patients, 14 PJS families, 5 sporadic PJS patients, and 250 healthy adults were collected and genomic DNAs of peripheral blood were extracted. Mutation screenings of LKB1 were performed using MLPA (multiplex ligation-dependent probe amplification), PCR, direct sequencing, and PCR-DHPLC (denaturing high-performance liquid chromatography)...
October 10, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/27705915/lkb1-is-a-dna-damage-response-protein-that-regulates-cellular-sensitivity-to-parp-inhibitors
#11
Yi-Shu Wang, Jianfeng Chen, Fengmei Cui, Huibo Wang, Shuai Wang, Wei Hang, Qinghua Zeng, Cheng-Shi Quan, Ying-Xian Zhai, Jian-Wei Wang, Xiang-Feng Shen, Yong-Ping Jian, Rui-Xun Zhao, Kaitlin D Werle, Rutao Cui, Jiyong Liang, Yu-Lin Li, Zhi-Xiang Xu
Liver kinase B1 (LKB1) functions as a tumor suppressor encoded by STK11, a gene that mutated in Peutz-Jeghers syndrome and in sporadic cancers. Previous studies showed that LKB1 participates in IR- and ROS-induced DNA damage response (DDR). However, the impact of LKB1 mutations on targeted cancer therapy remains unknown. Herein, we demonstrated that LKB1 formed DNA damage-induced nuclear foci and co-localized with ataxia telangiectasia mutated kinase (ATM), γ-H2AX, and breast cancer susceptibility 1 (BRCA1)...
September 29, 2016: Oncotarget
https://www.readbyqxmd.com/read/27659786/lentiginous-phenotypes-caused-by-diverse-pathogenic-genes-sash1-and-ptpn11-clinical-and-molecular-discrimination
#12
J Zhang, R Cheng, J Liang, C Ni, M Li, Z Yao
Pathogenic mutations in genes (SASH1 and PTPN11) can cause a rare genetic disorder associated with pigmentation defects and the well-known LEOPARD syndrome, respectively. Both conditions presented with lentiginous phenotypes. The aim of this study was to arrive at definite diagnoses of three Chinese boys with clinically suspected lentigines-related syndromes. ADAR1, ABCB6, SASH1 and PTPN11 were candidate genes for mutational screening. Sanger sequencing was performed to identify the mutations, whereas bioinformatic analysis was used to predict the pathogenicity of novel missense mutations...
October 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27631205/juvenile-polyposis-syndrome-an-unusual-case-report-of-anemia-and-gastrointestinal-bleeding-in-young-infant
#13
Yi-Han Hsiao, Chin-Hung Wei, Szu-Wen Chang, Lung Chang, Yu-Wei Fu, Hung-Chang Lee, Hsuan-Liang Liu, Chun-Yan Yeung
BACKGROUND: Juvenile polyposis syndrome, a rare disorder in children, is characterized with multiple hamartomatous polyps in alimentary tract. A variety of manifestations include bleeding, intussusception, or polyp prolapse. In this study, we present an 8-month-old male infant of juvenile polyposis syndrome initially presenting with chronic anemia. To the best of our knowledge, this is the youngest case reported in the literature. METHODS: We report a rare case of an 8-month-old male infant who presented with chronic anemia and gastrointestinal bleeding initially...
September 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27630887/a-rare-case-of-solitary-peutz-jeghers-type-hamartomatous-duodenal-polyp-with-dysplasia
#14
Chetan Devendra Rathi, Dattatray Balasaheb Solanke, Nikita Lalitkumar Kabra, Meghraj Ananda Ingle, Prabha Dilip Sawant
Solitary Peutz Jeghers (SPJ) type hamartomatous polyp is a rare and separate entity from classic Peutz Jeghers syndrome (PJS). A hamartomatous polyp without associated mucocutaneous pigmentations, any other gastrointestinal polyp or a family history of PJS is diagnosed as a SPJ type polyp. We described a case of 22-year-old young man in whom solitary duodenal polyp was incidentally detected and resected. Histopathological examination revealed PJ type hamartomatous polyp with foci of adenomatous and moderate dysplastic change...
July 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27573780/syndromic-gastric-polyps-at-the-crossroads-of-genetic-and-environmental-cancer-predisposition
#15
Lodewijk A A Brosens, Francis M Giardiello, G Johan Offerhaus, Elizabeth A Montgomery
Gastric polyps occur in 1-4 % of patients undergoing gastroscopy. Although most are sporadic, some gastric polyps are part of an underlying hereditary syndrome. Gastric polyps can be seen in each of the well-known gastrointestinal polyposis syndromes, but also in Lynch syndrome and in several rare not primarily gastrointestinal syndromes. In addition, Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS) is a recently described heritable syndrome characterized by isolated gastric polyposis and risk of gastric cancer...
2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27552020/-laugier-hunziker-syndrome-in-a-patient-with-sj%C3%A3-gren%C3%A2-s-syndrome-report-of-one-case
#16
Ximena Fajre, María Aspillaga, María McNab, Jorge Navarrete, Verónica Sanhueza, Juana Benedetto
Laugier-Hunziker syndrome is a rare benign idiopathic condition characterized by acquired macular pigmentation of lips and buccal mucosa, often accompanied with melanonychia. The main concern with this condition is to rule out other differential diagnosis with systemic repercussions and similar hyperpigmentation patterns, such as Peutz-Jeghers syndrome, adrenal insufficiency and melanoma. We report a 58-year-old female with a 20-year history of Sjögren’s syndrome, presenting with melanonychia and hyperpigmentation in the buccal mucosa...
May 2016: Revista Médica de Chile
https://www.readbyqxmd.com/read/27550049/a-pyloric-gland-phenotype-ovarian-mucinous-tumor-resembling-lobular-endocervical-glandular-hyperplasia-in-a-patient-with-peutz-jeghers-syndrome
#17
Eun Na Kim, Gu-Hwan Kim, Jiyoon Kim, In Ah Park, Jin Ho Shin, Yun Chai, Kyu-Rae Kim
We describe an ovarian mucinous neoplasm that histologically resembles lobular endocervical glandular hyperplasia (LEGH) containing pyloric gland type mucin in a patient with Peutz-Jeghers syndrome (PJS). Although ovarian mucinous tumors rarely occur in PJS patients, their pyloric gland phenotype has not been clearly determined. The histopathologic features of the ovarian mucinous tumor were reminiscent of LEGH. The cytoplasmic mucin was stained with periodic acid-Schiff reaction after diastase treatment but was negative for Alcian blue pH 2...
August 22, 2016: Journal of Pathology and Translational Medicine
https://www.readbyqxmd.com/read/27546620/lkb1-inhibits-hpv-associated-cancer-progression-by-targeting-cellular-metabolism
#18
Q Zeng, J Chen, Y Li, K D Werle, R-X Zhao, C-S Quan, Y-S Wang, Y-X Zhai, J-W Wang, M Youssef, R Cui, J Liang, N Genovese, L T Chow, Y-L Li, Z-X Xu
Liver kinase B1 (LKB1) is mutationally inactivated in Peutz-Jeghers syndrome and in a variety of cancers including human papillomavirus (HPV)-caused cervical cancer. However, the significance of LKB1 mutations in cervical cancer initiation and progress has not been examined. Herein, we demonstrated that, in mouse embryonic fibroblasts, loss of LKB1 and transduction of HPV16 E6/E7 had an additive effect on constraining cell senescence while promoting cell proliferation and increasing glucose consumption, lactate production and ATP generation...
August 22, 2016: Oncogene
https://www.readbyqxmd.com/read/27477802/hamartomatous-polyps-a-clinical-and-molecular-genetic-study
#19
Anne Marie Jelsig
Hamartomatous polyps (HPs) in the gastrointestinal (GI) tract are rare compared to other types of GI polyps, yet they are the most common type of polyp in children. The symptoms are usually rectal bleeding, abdominal pain, obstipation, anaemia, and/or small bowel obstruction. The polyps are typically removed concurrently with endoscopy when located in the colon, rectum, or stomach, whereas polyps in the small bowel are removed during push-enteroscopy, device-assisted enteroscopy, or by surgery. HPs can be classified as juvenile polyps or Peutz-Jeghers polyps based on their histopathological appearance...
August 2016: Danish Medical Journal
https://www.readbyqxmd.com/read/27475722/-biliary-cirrhosis-secondary-to-bile-duct-obstruction-by-hamartomatous-polyps-in-a-patient-with-peutz-jeghers-syndrome-case-report
#20
Miguel Angel Vichido-Luna, Flora Zárate-Mondragón, María Antonieta Mora-Tiscareño, Roberto Cervantes-Bustamante, Jaime Alfonso Ramírez-Mayans
No abstract text is available yet for this article.
July 27, 2016: Gastroenterología y Hepatología
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