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https://www.readbyqxmd.com/read/28212152/an-update-on-small-bowel-endoscopy
#1
Hey-Long Ching, Mark E McAlindon, Reena Sidhu
PURPOSE OF REVIEW: The breakthrough success of capsule endoscopy and device-assisted enteroscopy has inspired researchers to test and push the boundary of these technologies. The authors herein summarize the latest and most significant studies with clinical impact. RECENT FINDINGS: Competing capsule endoscopy models have enriched the platform of this wireless device. The role of capsule endoscopy in Crohn's disease is expanding as we learn more of the significance of disease distribution and response to treatment...
February 15, 2017: Current Opinion in Gastroenterology
https://www.readbyqxmd.com/read/28185117/a-lesson-from-a-reported-pathogenic-variant-in-peutz-jeghers-syndrome-a-case-report
#2
Hu Tan, Xianda Wei, Pu Yang, Yanru Huang, Haoxian Li, Desheng Liang, Lingqian Wu
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by mucocutaneous hyperpigmentation, gastrointestinal (GI) hamartmatous polyps, and an increased risk of various malignancies. Pathogenic variants in the LKB1 tumor suppressor gene (also known as STK11) are the major cause of PJS. In this study, compound heterozygous variants of LKB1, c.890G > A/ c.1062C > G and del(exon1)/ c.1062C > G, were identified in two sporadic Chinese PJS cases respectively. Although all these three variants had been related to the autosomal dominant PJS in previous studies, all evidences collected in this study including de novo data, segregation data, population data, in-silico data, and functional data indicated that del(exon1) and c...
February 9, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28184053/gastrointestinal-diseases-and-their-oro-dental-manifestations-part-4-peutz-jeghers-syndrome
#3
S E Korsse, M E van Leerdam, E Dekker
Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominant inherited disorder, caused by germline mutations in the LKB1 tumour suppressor gene. It is clinically characterised by distinct perioral mucocutaneous pigmentations, gastrointestinal polyposis and an increased cancer risk in adult life. Hamartomatous polyps can develop already in the first decade of life and may cause various complications, including abdominal pain, bleeding, anaemia, and acute intestinal obstruction. Furthermore, patients have an increased risk for developing cancer, both in the gastrointestinal tract as in other organs...
February 10, 2017: British Dental Journal
https://www.readbyqxmd.com/read/28133246/-a-family-with-peutz-jeghers-syndrome-having-various-malignant-diseases
#4
Toshiro Ogura, Toru Ishiguro, Yu Muta, Minoru Fukuchi, Tomonori Nagai, Youichi Kumagai, Keiichiro Ishibashi, Erito Mochiki, Hideyuki Ishida
We report a 27-year-old female who was diagnosed with adenocarcinoma of the uterine cervix associated with Peutz- Jeghers syndrome(PJS). She had undergone 5 surgeries for intestinal intussusception and had been diagnosed with PJS. She was referred to our hospital, complaining of watery vaginal discharge, and was diagnosed with adenocarcinoma of the uterine cervix. Following neoadjuvant chemotherapy, radical hysterectomy and small intestinal polypectomy by intraoperative endoscopy were performed. Among the third-degree relatives of her family, 10 had been diagnosed with PJS; of these 10, uterine cervical adenocarcinoma occurred in 3 relatives, pancreatic cancer in 2, cholangiocellular carcinoma in 1, and colon cancer in 1...
November 2016: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/28110467/an-overview-of-autosomal-dominant-tumour-syndromes-with-prominent-features-in-the-oral-and-maxillofacial-region
#5
REVIEW
Robert A Kennedy, Selvam Thavaraj, Salvador Diaz-Cano
Several autosomal dominant inherited tumour syndromes demonstrate prominent features in the oral and maxillofacial region. Although multiple organ systems are frequently involved, the target organs more frequently affected are the skin (nevoid basal cell carcinoma syndrome, Brooke-Spiegler syndrome, Birt-Hogg-Dube syndrome and Muir-Torre syndrome), gastrointestinal tract (Peutz-Jegher syndrome and Gardner syndrome) or endocrine system (multiple endocrine neoplasia type 2b and hyperparathyroidism-jaw tumour syndrome)...
January 21, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28107734/patient-and-medical-barriers-preclude-uptake-of-tamoxifen-preventative-therapy-in-women-with-a-strong-family-history
#6
Anita R Skandarajah, Susan Thomas, Kylie Shackleton, Laura Chin-Lenn, Geoffrey J Lindeman, G Bruce Mann
AIMS: To assess the eligibility, uptake and impediments to tamoxifen use in high-risk women attending a risk management clinic due to family history. PATIENTS AND METHODS: All patients with a germline mutation in a cancer predisposing gene or at high genetic risk (based on family history) attending a Breast and Ovarian cancer risk management clinic from February 2014 to May 2015 received both verbal and written evidence-based information on preventive therapy and were recommended to consider endocrine prevention if not contraindicated...
January 17, 2017: Breast: Official Journal of the European Society of Mastology
https://www.readbyqxmd.com/read/28101370/recurrent-ovarian-sertoli-leydig-cell-tumor-in-a-child-with-peutz-jeghers-syndrome
#7
Edward J Bellfield, Ramin Alemzadeh
We present a female child with Peutz-Jeghers syndrome (PJS) with a recurrent ovarian Sertoli-Leydig cell tumor (SLCT). SLCTs are relatively rare sex cord neoplasms that can occur in PJS. The patient was an African-American female who first presented at the age of 3 years with precocious puberty, and then at the age of 17 years with abdominal pain and irregular menses. In each case, she had resection of the mass, which included oophorectomy. To our knowledge, this is the first reported case in a child with PJS to have a recurrent ovarian SLCT...
August 2016: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/28062068/cervical-minimal-deviation-adenocarcinoma-in-peutz-jeghers-syndrome
#8
J Kenneth Schoolmeester, Lori A Erickson
No abstract text is available yet for this article.
January 2017: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/27999885/multidetector-ct-enterography-of-focal-small-bowel-lesions-a-radiological-pathological-correlation
#9
REVIEW
Farnoosh Sokhandon, Sayf Al-Katib, Lawrence Bahoura, Alexander Copelan, Daniel George, Dominic Scola
Focal small bowel lesions present a diagnostic challenge for both the radiologist and gastroenterologist. Both the detection and characterization of small bowel masses have greatly improved with the advent of multidetector CT enterography (MD-CTE). As such, MD-CTE is increasingly utilized in the workup of occult gastrointestinal bleeding. In this article, we review the spectrum of focal small bowel masses with pathologic correlation. Adenocarcinoma, the most common primary small bowel malignancy, presents as a focal irregular mass occasionally with circumferential extension leading to obstruction...
December 20, 2016: Abdominal Radiology
https://www.readbyqxmd.com/read/27943006/hereditary-syndromes-predisposing-to-endocrine-tumors-and-their-skin-manifestations
#10
REVIEW
Constantine A Stratakis
We often think of the lentiginoses, phacomatoses and other neurocutaneous syndromes as conditions that affect the skin and also predispose to a variety of tumors. However, we rarely think of Peutz-Jeghers syndrome (PJS), Carney complex (CNC), Cowden disease (CD), neurofibromatosis type-1 (NF-1) or tuberous sclerosis (TSC) as conditions that are multiple endocrine neoplasias (MEN). Indeed, all of these conditions predispose to a variety of endocrine tumors, in addition to many other neoplasms. On the other hand, the classic MENs, type 1 and 2 (MEN-1 and MEN-2, respectively) are almost never thought in terms of their skin manifestations...
September 2016: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/27910069/lkb1-as-a-tumor-suppressor-in-uterine-cancer-mouse-models-and-translational-studies
#11
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
#12
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...
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
#13
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
#14
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
#15
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
#16
REVIEW
P J Fuller, D Leung, S Chu
Ovarian sex cord-stromal tumors (SCST) represent approximately 8% of malignant ovarian tumors. The most common are granulosa cell tumors (GCT) which account for approximately 90% of malignant SCST. Recent studies have unraveled the key genomic and genetic events contributing to their pathogenesis. SCST 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...
February 2017: Clinical Genetics
https://www.readbyqxmd.com/read/27801954/the-world-health-organization-2016-classification-of-testicular-non-germ-cell-tumours-a-review-and-update-from-the-international-society-of-urological-pathology-testis-consultation-panel
#17
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 germ cell tumours; however, several modifications were also made for non-germ cell tumours. Among sex cord-stromal tumours, sclerosing Sertoli cell tumour (SCT) is no longer recognized as a separate entity but as a morphological variant of SCT not otherwise specified (NOS), as CTNNB1 gene mutations have been noted in both neoplasms but not in the other forms of SCT...
March 2017: Histopathology
https://www.readbyqxmd.com/read/27798096/chronic-pancreatitis-and-lipomatosis-are-associated-with-defective-function-of-ciliary-genes-in-pancreatic-ductal-cells
#18
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
#19
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...
November 2016: Der Pathologe
https://www.readbyqxmd.com/read/27721366/genetic-screening-and-analysis-of-lkb1-gene-in-chinese-patients-with-peutz-jeghers-syndrome
#20
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
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