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Cowden Syndrome

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https://www.readbyqxmd.com/read/29043291/fibroblastic-polyps-a-novel-polyp-subtype-in-cowden-syndrome
#1
Bradley Anderson, Thomas Smyrk, Seth Sweester
Cowden syndrome (CS) represents one possible phenotype of the PTEN gene mutation, and it can cause hamartomas throughout the gastrointestinal tract, with a predisposition for malignancy. Fibroblastic polyps have not been associated with CS. A 45-year-old woman with CS presenting for colonoscopic surveillance was found to have multiple sessile polyps throughout the transverse, descending, and sigmoid colon, all 2-5 mm in diameter. Based on the morphologic features and the immunohistochemical profile, these lesions were classified as fibroblastic polyps...
2017: ACG Case Reports Journal
https://www.readbyqxmd.com/read/29033429/cowden-syndrome-with-a-novel-pten-mutation-presenting-with-partial-epilepsy-related-to-focal-cortical-dysplasia
#2
Tadashi Adachi, Hiroshi Takigawa, Takashi Nomura, Yasuhiro Watanabe, Hisanori Kowa
Cowden syndrome is a rare autosomal dominant disorder characterized by multiple hamartomas of the ectoderm and brain. A 36-year-old Japanese man presented with right facial seizure during sleep and was admitted to our hospital. He showed cobblestoning over the tongue and palmar pitting but no neurological abnormalities while he was not having a seizure. Brain magnetic resonance imaging showed focal cortical dysplasia in the left frontal lobe. Electroencephalography showed sharp waves over the left frontal lesion...
October 16, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28901964/the-role-of-the-surgical-pathologist-in-the-diagnosis-of-gastrointestinal-polyposis-syndromes
#3
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/28868283/uveal-ganglioneuroma-due-to-germline-pten-mutation-cowden-syndrome-presenting-as-unilateral-infantile-glaucoma
#4
Sarah W DeParis, Michele Bloomer, Ying Han, M Reza Vagefi, Joseph T C Shieh, David A Solomon, James Grenert, Alejandra G de Alba Campomanes
PURPOSE: Uveal ganglioneuroma is a rare tumor that usually occurs in association with neurofibromatosis type 1. Here, we present a rare case of a uveal ganglioneuroma leading to a diagnosis of the tumor predisposition condition Cowden syndrome. PROCEDURES: A 5-year-old girl with unilateral refractory glaucoma secondary to diffuse iris and choroidal thickening developed a blind, painful eye. Enucleation was performed, and histopathology revealed infiltration of the entire uveal tract by neoplastic spindle cells containing admixed ganglion cells diagnostic of uveal ganglioneuroma...
July 2017: Ocular Oncology and Pathology
https://www.readbyqxmd.com/read/28842049/management-of-small-bowel-polyps-a-literature-review
#5
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
#6
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/28822557/family-history-of-cancer-predicts-endometrial-cancer-risk-independently-of-lynch-syndrome-implications-for-genetic-counselling
#7
Sharon E Johnatty, Yen Y Tan, Daniel D Buchanan, Michael Bowman, Rhiannon J Walters, Andreas Obermair, Michael A Quinn, Penelope B Blomfield, Alison Brand, Yee Leung, Martin K Oehler, Judy A Kirk, Tracy A O'Mara, Penelope M Webb, Amanda B Spurdle
OBJECTIVE: To determine endometrial cancer (EC) risk according to family cancer history, including assessment by degree of relatedness, type of and age at cancer diagnosis of relatives. METHODS: Self-reported family cancer history was available for 1353 EC patients and 628 controls. Logistic regression was used to quantify the association between EC and cancer diagnosis in ≥1 first or second degree relative, and to assess whether level of risk differed by degree of relationship and/or relative's age at diagnosis...
August 16, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28755140/circulating-levels-of-pten-and-klln-in-papillary-thyroid-carcinoma-can-they-be-considered-as-novel-diagnostic-biomarkers
#8
S Adeleh Razavi, Mohammad Hossein Modarressi, Parichehr Yaghmaei, S Mohammad Tavangar, Mehdi Hedayati
PURPOSE: PTEN and KLLN are two tumor suppressor genes located in 10q23, share a bidirectional promoter and have roles in carcinogenesis. Formerly, the role of PTEN mutations and KLLN epimutations were identified in incidence of thyroid lesions in individuals with Cowden syndrome, a rare autosomal dominant inherited disorder. This study is the first of its type to assess PTEN and KLLN circulating levels in patients with sporadic papillary thyroid carcinoma (PTC) and compare to patients with multinodular goiter (MNG) and healthy individuals...
July 28, 2017: Endocrine
https://www.readbyqxmd.com/read/28741261/hereditary-breast-cancer-associated-with-cowden-syndrome-related-pten-mutation-with-lhermitte-duclos-disease
#9
Fuyo Kimura, Ai Ueda, Eiichi Sato, Jiro Akimoto, Hiroshi Kaise, Kimito Yamada, Mari Hosonaga, Yuko Kawai, Saeko Teraoka, Miki Okazaki, Takashi Ishikawa
BACKGROUND: Cowden syndrome is characterized by multiple hamartomas in various tissues, including the skin, brain, breast, thyroid, mucous membrane, and gastrointestinal tract, and is reported to increase the risk of malignant disease. CASE PRESENTATION: We describe the case of a 52-year-old woman in whom a tumor was diagnosed in the left cerebellar hemisphere and treated by surgical resection. Phosphatase and tensin homolog (PTEN) mutation in exon 8 insertion was found in the brain tumor tissue and leukocytes...
December 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/28734331/optic-nerve-head-drusen-as-a-rare-manifestation-of-cowden-syndrome-multimodal-imaging
#10
Ivo Gama, Leonor Almeida
No abstract text is available yet for this article.
August 2017: Ophthalmology
https://www.readbyqxmd.com/read/28716492/unusual-presenting-manifestation-of-a-rare-polyposis-cowden-syndrome
#11
Luisa Adán Merino, Mercedes Aldeguer Martínez, Federico Álvarez Rodríguez, Marta Barceló López, Rocío Plaza Santos, Fátima Valentín Gómez
No abstract text is available yet for this article.
July 14, 2017: Gastroenterología y Hepatología
https://www.readbyqxmd.com/read/28677221/characterization-of-cryptic-splicing-in-germline-pten-intronic-variants-in-cowden-syndrome
#12
Hannah Jinlian Chen, Todd Romigh, Kaitlin Sesock, Charis Eng
Germline mutations in the tumor-suppressor gene PTEN predispose to subsets of Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, and autism. Evidence-based classification of PTEN variants as either deleterious or benign is urgently needed for accurate molecular diagnosis and gene-informed genetic counseling. We studied 34 different germline PTEN intronic variants from 61 CS patients, characterized their PTEN mRNA processing, and analyzed PTEN expression and downstream readouts of P-AKT and P-ERK1/2. While we found that many mutations near splice junctions result in exon skipping, we also identified the presence of cryptic splicing that resulted in premature termination or a shift in isoform usage...
October 2017: Human Mutation
https://www.readbyqxmd.com/read/28608266/potentially-pathogenic-germline-chek2-c-319-2t-a-among-multiple-early-onset-cancer-families
#13
Mev Dominguez-Valentin, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M Nissen, Monika Morak, Elke Holinski-Feder, Alexandra Martins, Pål Møller, Eivind Hovig
To study the potential contribution of genes other than BRCA1/2, PTEN, and TP53 to the biological and clinical characteristics of multiple early-onset cancers in Norwegian families, including early-onset breast cancer, Cowden-like and Li-Fraumeni-like syndromes (BC, CSL and LFL, respectively). The Hereditary Cancer Biobank from the Norwegian Radium Hospital was used to identify early-onset BC, CSL or LFL for whom no pathogenic variants in BRCA1/2, PTEN, or TP53 had been found in routine diagnostic DNA sequencing...
June 12, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28567709/renal-cell-cancers-unveiling-the-hereditary-ones-and-saving-lives-a-tailored-diagnostic-approach
#14
REVIEW
Georgios Kallinikas, Helai Habib, Dimitrios Tsimiliotis, Evangelos Koutsokostas, Barna Bokor
The prevalence of RCC in Europe is 2-3% and increasing every year. Hereditary predisposition is found in 5-8% of all RCC cases. Hereditary syndromes associated with RCC include: Von Hippel-Lindau, hereditary papillary renal cell carcinoma, Birt-Hogg-Dube', hereditary leiomyomatosis, succinate dehydrogenase's deficiency, tuberous sclerosis complex and Cowden's syndrome. These syndromes are related to specific genetic mutations. So far the European Association of Urology and American Urological Association have not established guidelines for referral of patients with RCC for germline mutation screening...
May 31, 2017: International Urology and Nephrology
https://www.readbyqxmd.com/read/28558450/-transoral-coblation-assisted-endoscopic-minimally-invasive-surgery-for-superficial-tongue-base-tumours
#15
W Y Li, H Huo, D H Yang, J H Liu, J Wang, X F Jin, Y Y Niu
Objective: To introduce the method of transoral coblation-assisted endoscopic minimally invasive surgery for superficial tongue base tumour. Methods: A total of 15 patients treated with transoral coblation-assisted endoscopic minimally invasive surgery from Mar. 2006 to Aug. 2016 were retrospectively reviewed. There were 9 patients with malignant tumors, 6 patients with benign neoplasms. Adjuvant postoperative radiation therapy was applied in three cases of squamous cell carcinoma, neck was performed in four cases of cancer...
May 7, 2017: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/28543709/acral-plexiform-palisaded-encapsulated-neuromas-as-the-initial-cutaneous-manifestation-of-cowden-syndrome
#16
Elizabeth Harris, Adnan Mir
Cowden syndrome (CS) is an autosomal dominant genodermatosis associated with characteristic mucocutaneous findings of facial trichilemmomas, palmoplantar keratoses, sclerotic fibromas, and oral papillomas. Mucocutaneous neuromas have also been reported in association with CS. We describe a patient with CS whose sole cutaneous finding was palisaded encapsulated neuromas (PENs) with a plexiform growth pattern in an acral location. Along with previous reports, this case suggests that acral plexiform PENs may be an early, highly specific finding in CS and highlights the importance of screening these patients for PTEN mutation...
May 23, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28523199/de-novo-pten-mutation-in-a-young-boy-with-cutaneous-vasculitis
#17
Angela Mauro, Ebun Omoyinmi, Neil James Sebire, Angela Barnicoat, Paul Brogan
Phosphatase and tensin homolog (PTEN) is the protein encoded by the PTEN gene (10q23.3). PTEN mutations are related to a variety of rare diseases referred to collectively as PTEN hamartoma tumor syndromes (PHTS), which include Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus Syndrome, and Proteus-like syndrome. These diseases are associated with an increased risk of malignancy and for this reason an accurate and early diagnosis is essential in order to institute cancer surveillance. PTEN is a regulator of growth and homeostasis in immune system cells, although there are limited data describing immune dysregulation caused by PTEN mutations...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28513612/insertion-of-alu-elements-at-a-pten-hotspot-in-cowden-syndrome
#18
Louise Crivelli, Virginie Bubien, Natalie Jones, Jennifer Chiron, Françoise Bonnet, Emmanuelle Barouk-Simonet, Patrice Couzigou, Nicolas Sevenet, Frédéric Caux, Michel Longy
Cowden syndrome (CS) is an inherited autosomal dominant disorder associated with germline pathogenic variants of the PTEN tumor suppressor gene. Its phenotypical expression is highly variable and the existence of patients with a CS suggestive phenotype without pathogenic PTEN variant may be related to genetic heterogeneity. In order to explore this hypothesis through the detection of potentially deleterious variants enabling us to identify a new candidate gene, we performed whole-exome sequencing (WES) in a series of 22 CS patients without detectable PTEN pathogenic variant using conventional methods for mutation screening...
September 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28479525/lhermitte-duclos-disease-dysplastic-gangliocytoma-of-the-cerebellum-and-cowden-syndrome-clinical-experience-from-a-single-institution-with-long-term-follow-up
#19
Tao Jiang, Junmei Wang, Jiang Du, Shiqi Luo, Raynald Liu, Jian Xie, Ying Wang, Chunde Li
BACKGROUND: Adult-onset Lhermitte-Duclos disease (LDD) and Cowden syndrome (CS) are considered a single phakomatosis that belongs to PTEN hamartoma tumor syndrome (PHTS) now. There is still controversy regarding the diagnosis and treatment. The authors describe the clinical features of LDD and CS with long-term follow up. METHODS: From January 2001 to January 2017, 18 patients were admitted to the neurosurgery department of Beijing Tiantan Hospital. The authors analyzed the medical records of each patient and followed every case...
August 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28474160/-hereditary-tumor-syndromes-in-neuropathology
#20
REVIEW
C Mawrin
Neoplasms in the central (CNS) and peripheral nervous system (PNS) in hereditary tumor syndromes play an important role in the neuropathological diagnostics. The benign and malignant PNS and CNS tumors that occur in the frequent neurofibromatosis type 1 (NF1) and type 2 (NF2) often represent essential factors for the course of the disease in those affected. Furthermore, certain clinical constellations (e.g. bilateral schwannomas of the auditory nerve, schwannomas at a young age and multiple meningiomas) can be important indications for a previously undiagnosed hereditary tumor disease...
May 2017: Der Pathologe
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