Gastrointestinal stromal tumor (GIST) in children and adolescents is extremely rare. In contrast to adult GIST, which is usually caused by mutations in the genes for KIT or PDGFRA, most cases of GIST in children and adolescents is usually caused by an alteration of the Succinate Dehydrogenase (SDH) gene; however, some patients demonstrate altered succinate dehydrogenase function without having an SDH gene mutation. Young people between the ages 18 and 30 years may develop either adult-type mutant GIST or pediatric-type GIST. Testing is required to determine the type of GIST in order to direct treatment decisions.
Patients with an SDH gene mutation are susceptible to developing GIST tumors and/or paragangliomas (Carney-Stratakis Dyad). Mutations can occur in any one of the SDH subunits (a,b, c, or d). These mutations may be inherited, in which case known as germline mutation. The presence of an SDH gene mutation results in a condition known as SDH-deficiency due to the fact that the mutation causes altered mitochondrial function. SDH-deficiency can be determined by immunohistochemical (IHC) stain testing.
Carney Triad patients are susceptible to developing GIST tumors and/or paragangliomas as well as pulmonary chondromas. Unlike Carney-Stratakis Dyad patient, Carney Triad patients do not possess an identifiable SDH gene mutation. Despite the absence of a known SDH gene mutation, they are SDH-deficient. Although the underlying genetic cause has yet been identified, dysfunction of an SDH-promoter gene has been suggested and is being researched. Unlike Carney-Stratakis Dyad, Carney Triad does not appear to be an inherited condition.
Research to identify genetic abnormalities that may be responsible for wildtype GIST, pediatric GIST, Carney-Stratakis Dyad, and Carney Triad is an active pursuit.
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To contact us about SDH-deficient GIST, wildtype GIST, pediatric GIST, Carney Triad, Carney-Stratakis Dyad GIST, or other GIST in young patients, e-mail us at this address: email@example.com
Please see our pages on:
- Carney Triad
- Wildtype Expert Q&A
- Wildtype GIST Webcasts and Slideshows
- Our Stories
- Links for Young Patients
- Us and Our Docs
- Donating Tissue to Research
- NIH Clinic for SDH-Deficient and Wildtype GIST
US Physicians with Expertise in SDH-deficient GIST
It is important to find physicians who have experience with these rare cases. The following table includes physicians identified by parents involved in our listserv. Please contact us at firstname.lastname@example.org if you wish to have another physician’s name included. Click the name to link to a descriptive website, if available.
|Cristina Antonescu, MD||pathology||Memorial Sloan Kettering Cancer Center|
|Sosipatros Boikos, MD||Oncology|| Virginia Commonwealth University
|J. Aidan Carney, MD, PhD||pathology (emeritus but still active in Carney Triad cases)||Mayo Clinic, Rochester|
|Katherine A. Janeway, MD||pediatric oncology||Dana Farber Cancer Institute
Children’s Hospital, Boston
|Michael LaQuaglia, MD||pediatric surgery||Memorial Sloan Kettering Cancer Center, New York, New York|
|Fernanda Arnaldez, MD||Oncology|| National Institute of Health
|Alberto Pappo, MD||pediatric oncology||St. Jude Children Hospital
|Margaret Von Mehren, MD||Oncology||Fox Chase Cancer Center
|Constantine A. Stratakis, MD||endocrinology & genetics||National Institute of Child Health & Human Development
|Daniel von Allmen, MD||pediatric surgery|| Cincinnati Children’s Hospital
|Jason Sicklick, MD||surgery||Moores Cancer Center
UC San Diego, California
|Ronald DeMatteo, MD||surgery||University of Pennsyalvania
|Joshua Schiffman, MD||Pediatric oncology||Huntsman Cancer Center,
University of Utah
The non-pediatric sections of our website include lots of information that is also relevant to GIST in children, adolescents, and young adults. Please check some of these pages…
- Best Links
- Webcasts and Slide Shows
- GIST Publications
- Free-access GIST Publications
- For New GIST Patients
- About GIST