Simultaneous KIT mutation and succinate dehydrogenase (SDH) deficiency in a patient with a gastrointestinal stromal tumour and Carney-Stratakis syndrome: a case report-Reference-Cited by-同舟云学术

Simultaneous KIT mutation and succinate dehydrogenase (SDH) deficiency in a patient with a gastrointestinal stromal tumour and Carney-Stratakis syndrome: a case report

Published:2014-10-28 Issue:5 Volume:65 Page:712-717
ISSN:0309-0167
Container-title:Histopathology
language:en
Short-container-title:Histopathology

Author:

Jové Maria¹,Mora Jaume²,Sanjuan Xavier³,Rodriguez Eva²,Robledo Mercedes⁴,Farran Leandre⁵,Garcia del Muro Xavier¹

Affiliation:

1. Department of Medical Oncology; Institut Català d'Oncologia; L'Hospitalet de Llobregat; Barcelona Spain

2. Department of Pediatric Oncology; Hospital Sant Joan de Déu (HSJD); Barcelona Spain

3. Department of Pathology; Hospital Universitari de Bellvitge; L'Hospitalet de Llobregat; Barcelona Spain

4. Hereditary Endocrine Cancer, Group Leader, Human Cancer Genetics Programme; Spanish National Cancer Centre (CNIO); Madrid Spain

5. Department of Surgery; Hospital Universitari de Bellvitge; L'Hospitalet de Llobregat; Barcelona Spain

Publisher

Wiley

Subject

General Medicine,Histology,Pathology and Forensic Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/his.12506/fullpdf

Reference23 articles.

1. Immunohistochemistry for SDHB divides gastrointestinal stromal tumors (GISTs) into 2 distinct types;Gill;Am. J. Surg. Pathol.,2010

2. Gastrointestinal Stromal Tumors Are SDHB Negative (“Type 2 “) GISTs;Gill;Am. J. Surg. Pathol.,2011

3. Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD;Pasini;Eur. J. Hum. Genet.,2008

4. The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications;Stratakis;J. Intern. Med.,2009

5. Gastrointestinal stromal tumours: origin and molecular oncology;Corless;Nat. Rev. Cancer,2011

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