FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4213202009> ?p ?o ?g. }

• W4213202009 abstract "HomeRadioGraphicsVol. 42, No. 2 PreviousNext Cases from the Cooky JarFree AccessCowden SyndromePatricia Balthazar , Michail E. Klontzas, Lauren X.X. Heng, Ciléin KearnsPatricia Balthazar , Michail E. Klontzas, Lauren X.X. Heng, Ciléin KearnsAuthor AffiliationsFrom the Department of Radiology and Imaging Sciences, Emory University School of Medicine, 1365-A Clifton Rd NE, Suite AT-627, Atlanta, GA 30322 (P.B.); Department of Medical Imaging, University Hospital of Heraklion, Heraklion, Crete, Greece (M.E.K.); Northern Arizona University, Flagstaff, Ariz (L.X.X.H.); and Medical Research Institute of New Zealand, Wellington, New Zealand, and Artibiotics, Wellington, New Zealand (C.K.).Address correspondence to P.B. (e-mail: [email protected]).Patricia Balthazar Michail E. KlontzasLauren X.X. HengCiléin KearnsPublished Online:Feb 18 2022https://doi.org/10.1148/rg.210230MoreSectionsPDF ToolsImage ViewerAdd to favoritesCiteTrack CitationsPermissionsReprints ShareShare onFacebookTwitterLinked In Cowden syndrome, also known as multiple hamartoma syndrome or PTEN hamartoma tumor syndrome, is a rare autosomal-dominant condition caused by mutations of the PTEN tumor suppressor gene (1,2), leading to uncontrolled cell proliferation (Fig 1), which manifests as multisystem hamartomas and malignancies (Fig 2) (2). Patients with Cowden syndrome are at increased risk for breast, thyroid, colon, kidney, and endometrial malignancies (1).Figure 1. Comic depicts the pathophysiology of PTEN as a tumor suppressor gene. (See also Fig E1.) (Reprinted, with permission, from Ciléin Kearns, Artibiotics, Copyright © 2022.)Figure 1.Download as PowerPointOpen in Image Viewer Figure 2. Illustration depicts the manifestations of Cowden syndrome. (Reprinted, with permission, from Ciléin Kearns, Artibiotics, Copyright © 2022.)Figure 2.Download as PowerPointOpen in Image Viewer Cutaneous manifestations and imaging findings (Fig 3) may predate the development of malignancy, rendering early recognition of Cowden syndrome important for risk assessment and cancer screening. Multiple facial trichilemmomas (benign follicular epithelial tumors) are characteristic (1). Other cutaneous manifestations include sclerotic fibromas, palmoplantar keratosis, and oral papillomas (1,2). Benign imaging findings include esophageal glycogenic acanthosis; gastrointestinal polyposis; breast papillomas and fibrocystic changes; multinodular goiter; testicular lipomatosis; Lhermitte-Duclos disease; vascular malformations; lipomas; uterine fibroids; endometriosis; and hamartomatous lesions in the liver, pancreas, and spleen (1,2).Figure 3. Multisystem findings in Cowden syndrome. (A) Photograph shows multiple keratotic papules at the palmar surface of the hand, findings compatible with acral keratosis. (B) Spot endoscopic image shows multiple whitish plaquelike esophageal nodules, findings consistent with glycogenic acanthosis. (C) Coronal chest CT image shows esophageal wall plaquelike irregularity due to glycogenic acanthosis. (D) Longitudinal US images of the bilateral testes show multiple small nonshadowing intratesticular hyperechoic masses, compatible with testicular lipomatosis. The testes are normal in size and contour. (E) Coronal T1-weighted postcontrast MR image of the brain shows hypointense nonenhancing striation in the right cerebellum. (F) Axial fluid-attenuated inversion-recovery MR image of the brain shows a hyperintense right cerebellar ill-defined lesion without significant edema, consistent with Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma).Figure 3.Download as PowerPointOpen in Image Viewer The recommended screening regimen for patients with Cowden syndrome includes colonoscopy and esophagogastroduodenoscopy starting at age 15 years (usually biannually, but follow-up frequency may vary according to polyp burden), annual thyroid US starting at age 18 years, annual endometrial biopsy and transvaginal US in women starting at age 30–35 years, mammography and breast MRI in women starting at age 30–35 years, and annual or biannual renal US starting at age 40 years (2).Disclosures of Conflicts of Interest.— P.B. Editorial board member of RadioGraphics; travel reimbursement from American College of Radiology. C.K. Editorial board member of RadioGraphics.P.B. and C.K. have reported disclosures (see page E44); all other authors have disclosed no relevant relationships.References1. Lee MH, Lubner MG, Peebles JK, et al. Clinical, imaging, and pathologic features of conditions with combined esophageal and cutaneous manifestations. RadioGraphics 2019;39(5):1411–1434. Link, Google Scholar2. Katabathina VS, Menias CO, Khanna L, et al. Hereditary gastrointestinal cancer syndromes: role of imaging in screening, diagnosis, and management. RadioGraphics 2019;39(5):1280–1301. Link, Google ScholarArticle HistoryReceived: Nov 22 2021Accepted: Nov 29 2021Published online: Feb 18 2022Published in print: Mar 2022 FiguresReferencesRelatedDetailsRecommended Articles Hereditary Gastrointestinal Cancer Syndromes: Role of Imaging in Screening, Diagnosis, and ManagementRadioGraphics2019Volume: 39Issue: 5pp. 1280-1301Clinical, Imaging, and Pathologic Features of Conditions with Combined Esophageal and Cutaneous ManifestationsRadioGraphics2019Volume: 39Issue: 5pp. 1411-1434Genetic Syndromes Associated with Central Nervous System TumorsRadioGraphics2016Volume: 37Issue: 1pp. 258-280Radiologist’s Primer on Imaging of Common Hereditary Cancer SyndromesRadioGraphics2019Volume: 39Issue: 3pp. 759-778Spectrum of Extratesticular and Testicular Pathologic Conditions at Scrotal MR ImagingRadioGraphics2018Volume: 38Issue: 3pp. 806-830See More RSNA Education Exhibits Multimodality Imaging Of Hamartomas: An Interactive Case Based ApproachDigital Posters2021Hereditary Cancer Predisposition SyndromesDigital Posters2019Be Sceptical, Save A Testicle: Sonographic Features Of Benign Intratesticular Lesions That Can Mimic MalignancyDigital Posters2021 RSNA Case Collection Dysplastic cerebellar gangliocytomaRSNA Case Collection2020Testicular LipomatosisRSNA Case Collection2022Pulmonary HamartomaRSNA Case Collection2021 Vol. 42, No. 2 Supplemental MaterialMetrics Altmetric Score PDF download" @default.
• W4213202009 created "2022-02-24" @default.
• W4213202009 creator A5017541421 @default.
• W4213202009 creator A5028567416 @default.
• W4213202009 creator A5061525938 @default.
• W4213202009 creator A5078341846 @default.
• W4213202009 date "2022-02-18" @default.
• W4213202009 modified "2023-09-27" @default.
• W4213202009 title "Cowden Syndrome" @default.
• W4213202009 cites W2965452099 @default.
• W4213202009 cites W2967273749 @default.
• W4213202009 doi "https://doi.org/10.1148/rg.210230" @default.
• W4213202009 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35179988" @default.
• W4213202009 hasPublicationYear "2022" @default.
• W4213202009 type Work @default.
• W4213202009 citedByCount "0" @default.
• W4213202009 crossrefType "journal-article" @default.
• W4213202009 hasAuthorship W4213202009A5017541421 @default.
• W4213202009 hasAuthorship W4213202009A5028567416 @default.
• W4213202009 hasAuthorship W4213202009A5061525938 @default.
• W4213202009 hasAuthorship W4213202009A5078341846 @default.
• W4213202009 hasConcept C142724271 @default.
• W4213202009 hasConcept C190283241 @default.
• W4213202009 hasConcept C2777609662 @default.
• W4213202009 hasConcept C2780846426 @default.
• W4213202009 hasConcept C54355233 @default.
• W4213202009 hasConcept C71924100 @default.
• W4213202009 hasConcept C86554907 @default.
• W4213202009 hasConcept C86803240 @default.
• W4213202009 hasConceptScore W4213202009C142724271 @default.
• W4213202009 hasConceptScore W4213202009C190283241 @default.
• W4213202009 hasConceptScore W4213202009C2777609662 @default.
• W4213202009 hasConceptScore W4213202009C2780846426 @default.
• W4213202009 hasConceptScore W4213202009C54355233 @default.
• W4213202009 hasConceptScore W4213202009C71924100 @default.
• W4213202009 hasConceptScore W4213202009C86554907 @default.
• W4213202009 hasConceptScore W4213202009C86803240 @default.
• W4213202009 hasLocation W42132020091 @default.
• W4213202009 hasLocation W42132020092 @default.
• W4213202009 hasOpenAccess W4213202009 @default.
• W4213202009 hasPrimaryLocation W42132020091 @default.
• W4213202009 hasRelatedWork W1980823527 @default.
• W4213202009 hasRelatedWork W1987677869 @default.
• W4213202009 hasRelatedWork W1996222881 @default.
• W4213202009 hasRelatedWork W2035627730 @default.
• W4213202009 hasRelatedWork W2106893670 @default.
• W4213202009 hasRelatedWork W2139553262 @default.
• W4213202009 hasRelatedWork W2313314866 @default.
• W4213202009 hasRelatedWork W2316224796 @default.
• W4213202009 hasRelatedWork W2560395132 @default.
• W4213202009 hasRelatedWork W3194812150 @default.
• W4213202009 isParatext "false" @default.
• W4213202009 isRetracted "false" @default.
• W4213202009 workType "article" @default.