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ECR 2019 / C-2457
Recognizing Cowden Syndrome; radiological findings to look for
Congress: ECR 2019
Poster No.: C-2457
Type: Educational Exhibit
Keywords: CNS, Thyroid / Parathyroids, Gastrointestinal tract, MR-Diffusion/Perfusion, Ultrasound, CT-Colonography, Diagnostic procedure, Connective tissue disorders, Cancer
Authors: M. Gredilla1, M. LETURIA ETXEBERRIA2, A. Serdio3, J. Elejondo Oddo4, E. Pardo Zudaire5; 1DONOSTIA/ES, 2San Sebastian, Gipuzkoa/ES, 3Donostia - San Sebastián/ES, 4San Sebastián/ES, 5San sebastian/ES


1.      Juan de Dios García Díaz; Síndrome de Cowden; Grupo de trabajo sobre cáncer en síndrome genéticos pilomalformativos (GT-CSGP); Orphanet February 2012

2.      Katherine H. Fiala, Christopher G. Staples, Richard P. Vinson, Lester F. Libow, William D. James; Cowden Disease (Multiple Hamartoma Syndrome); Medscape 24 June 2016

3.      JNCI: Journal of the National Cancer Institute, Volume 106, edition 6, 1 June 2014

4.      Kurek KC, Howard E, et al; The American Journal of Surgical Pathology; PTEN hamartoma of soft tissue: a distinctive lesion in PTEN syndromes; May 2012;  36 (5): 671-687

5.      Peter P. Stanich, Noralane M. Lindor; PTEN hamartoma tumor syndrome, including Cowden syndrome; 11 January 2018

6.      Joanne Ngeow, Kaitlin Sesock, Charis Eng; Clinical Implications for Germline PTEN Spectrum Disorders; Endocrinology and Metabolism Clinics of North America; volume 46, edition 2: 503-517; June 2017

7.      Jessica Mester, Charis Eng; Cowden Syndrome: Recognizing and Managing a Not-So-Rare Hereditary Cancer Syndrome; Journal of Surgical Oncology; 2015; 111:125-130

8.      Pilarski R., Burt R., Kohlman W., Pho L., Shannon KM., Swisher E.; Cowden Syndrome and the PTEN hamartoma syndrome: systematic review  and revised diagnostic criteria; JNCI: Journal of the National Cancer Institute, volume 105, edition 21; 1607-16, 6 de November de 2013

9.      Mirinae Seo, MD, Nariya Cho, MD, Hye Shin Ahn, MD, and Hyeong-Gon Moon, MD; Cowden Syndrome Presenting Breast Cancer: Imaging and Clinical Features; Korean J. Radio. Volume 15, edition 5; 586-590 September-October 2014

10.  Fuyo Kimura, Ai Ueda, Eiichi Sato, Jiro Akimoto, Hiroshi Kaise, Kimito Yamada, Mari Hosonaga, Yuko Kawai, Saeko Teaoka, Miki Okazaki, and Takashi Ishikawa; Hereditary Breast Cancer Associated with Cowden Syndrome-Related PREN Mutation with Lhermitte-Duclos Disease; Surgical Case Reports 3:83; July 2017

11.  Anna Raymond and Michael Esson; Cowden Syndrome: Mucocutaneous Lesions as Precursors of Internal Malignancy; April 2014

12.  Romeo Patini, Edoardo Staderini, and Patrizia Gallenzi; Multidisciplinary Surgical Management of Cowden Syndrome: Report of a Case; volume 8 (4); 472-474; October 2016

13.  Wanfeng Yu, Ying Ni, Motoyasu Saji, Matthew D. Ringel, Ritika Jaini, and Charis Eng; Cowden Syndrome-Associated Germline Succinate Dehydrogenase Complex Subunit D (SDHD) Variants Cause PTEN-Mediated Down-Regulation of Autophagy in Thyroid Cancer Cells; Human Molecular Genetics, Volume 26, Issue 7, Pages 1365-1375; April 2017

14.  Joe B. Woodhouse, Brett Delahunt, Sharon F. English, Hamish H. Fraser, and Martin M. Ferguson; Testicular Lipomatosis in Cowden´s Syndrome; Modern Pathology; Volume 18; Pages 1151-1156; May 2005

15.          Sapna Syngal , MD, MPH, FACG, Randall E. Brand , MD, FACG, James M. Church, MD, FACG, Francis M. Giardiello, MD 8, Heather L. Hampel, MS, CGC, and Randall W. Burt , MD, FACG; ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes; Am J Gastroenterol; 110:223–262; February 2015

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