SDH Cancer
SDH Cancer

National Institute of Health Pediatric GIST Clinic

Once a year our National Institute of Health holds a Pediatric-GIST Clinic.  It is by invitation only and we encourage all patients with a GIST diagnosis who are 18 years or younger to apply.  We also encourage anyone with a "wildtype" GIST diagnosis to apply.​  The clinic is held annually, usually in June.  Experts from all over the world attend to share information amongst themselves as well as educate patients, caregivers and parents on how this subset of GIST is unique. The patients who attend and who have attended this Clinic donate tissue samples and DNA (saliva) that stays on file for future research.  

Tumor Tissue Donations Important

Donation of tumor tissue is of upmost importance.  If you know you are having surgery we would encourage you to pre-arrange to have your tumor tissue sent to researchers who are actively conducting studies in Pediatric/SDH-deficient GIST.  


NIH is interested in obtaining tissue samples.  They may be contacted at:  Here is a brochure explaining how patients can donate tissue


The SDH-RA can also facilitate tissue transfer to labs. Please contact us if you anticipate having surgery and would like to learn where your tissue samples can be sent to benefit research. We may be reached at:

Phase Trial


A Phase II Trial of the DNA Methyl Transferase Inhibitor, Guadecitabine (SGI-110), in Children and Adults With Wild Type GIST,Pheochromocytoma and Paraganglioma Associated With Succinate Dehydrogenase Deficiency and HLRCC-associated Kidney Cancer


SGI-110 will be administered subcutaneously at 45mg/m2/day x 5 days on a 28-day cycle. Cycles may be repeated until there is evidence of tumor progression clinically or by RECIST v1.1 or there is intolerable toxicity that is not alleviated by dose reduction.


The following organizations are good sources to learn more about GIST. They can also answer  questions and appreciate any monetary donations as well.


GSI Gist Support International - Wildtype/SDH Gist -


GSI SDH Deficient Gist, Pediatric Gist, Wildtype Gist Support Group -


GIST Cancer Awareness Foundation -


Gist Cancer Research Fund -


The Liferaft Group -


Pediatric and Wildtype Gist Clinic at NIH -


Pheo Para Coalition -


Pheo-Para Alliance -


PheoParaTroopers -


PAWS-GIST (Paediatric Adolescent Wild-type & Syndromic GIST) UK -


ParaDifference Foundation -


Non-Profits Providing Financial Assistance to Cancer Patients


GIST & SDH-Deficient Researchers

GIST Support International, listing of GIST Specialists


Liferaft Group, listing of GIST Specialists


Dr. Jason Sicklick, GIST surgeon, Moores Cancer Center, UCSD La Jolla, California


Dr. Michael Heinrich, GIST oncologist, Knight Cancer Institute, OHSU, Portland, Oregon 


Dr. Fernanda Arnaldez, Wildtype GIST oncologist, National Cancer Institute, Bethesda, Maryland


Dr. Karel Pacak, Senior Investigator Paraganglioma and Pheochromocytoma, NIH, Bethesda, Maryland


Dr. Constantine Stratakis, Senior Investigator, genecist, NIH/NICDH, Bethesda, Maryland


Dr. Sosipatros Boikos, Wildtype GIST oncologist, Massey Center, Virginia Commonwealth University, Richmond, Virginia


Dr. Brian Van Tine, Oncologist, Siteman Cancer Center, Washington University, St. Louis, Missouri


Dr. Boro Baysal, Oncologist, discovered the SDHD mutation, Roswell Park Cancer Center, Buffalo, New York


Dr. Katherine Janeway, Pediatric Oncologist, Dana-Farber/Harvard, Boston, Massachuettes


Relevant wildtype & SDH-Deficient GIST Articles

NIH Pediatric Clinic Analysis of SDH deficient GIST patients - 2012, Dr. Su Young Kim

VIDEO - Analysis of the Pediatric Gist Clinic at NIH in 2012.  Nice clear explanation of SDH deficient GIST

Administrator's take: Dr. Su Young Kim, a friend to us who had the pleasure to meet him, giving a talk/analysis of Pediatric/SDH deficient GIST

Surgical Management of Adolescents and Young Adults With Gastrointestinal Stromal Tumors: 
A US Population-Based Analysis.

This study found that adolescent and young adult GIST patients are more likely to undergo surgical management than older adult patients. Operative management is associated with improved overall survival, including those with metastatic disease

Administrator's take: Surgery is still the best often for wildtype and SDH-Deficient GIST patients

Prognosis and management of adult wild type gastrointestinal stromal tumours (GISTs): A pooled analysis and review of literature

•Adults with WT GISTs have a similar molecular pathway to pediatric GISTs.
•Survival in both these subtypes is similar and more favourable compared to other GISTs.
Mean survival in adults was 15.7 years ± 0.78 and in children was 18.8 years ± 1.3 (p = 0.241). Median disease free survival in adults was 10 years while 5-year overall survival was 88%. Overall survival in adults with WT GISTs is favourable compared to other adult GIST subtypes likely reflects a common molecular pathway similar to pediatric GIST.

Administrator's take: Pediatric GIST and wildtype GIST patients have a longer survival rate than regular GIST

Diagnosis, Localization, Pathophysiology, and Molecular Biology of Pheochromocytoma and Paraganglioma
Karel Pacak, MD, PhD, DSc

What I found interesting:

The paper has a comparison of the Ga-Dotatate scan verse F-FDopa scan with superior clariety in the Ga-Dotatatate.

Then some things we know:
PPGLs with mutations in SDHB are the most aggressive forms of the disease, partly owing to their pseudo-hypoxic character, metabolic abnormalities, and elevated levels of reactive oxygen species (ROS).

Some tumor suppressor solutions they thought possible include two herbal:
Piperlongumine (PL), a natural product with cytotoxic properties

Topoisomerase I inhibitor, LMP-400


ATP5B antibody led to statistically significant inhibition of proliferation. 

They were able to get a working mouse model using this technique:
NOD-scid gamma (NSG) mice xenografts of primary human PGLs took

Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations

Analysis of the Leiden Open Variation Database

Gists:  26 SDHA, 14 SDHB, 9 SDHC, 6 SDHD - Total SDH deficient Gist 55

Paras/Pheos:  7 SDHA, 211 SDHB, 42 SDHC, 141 SDHD - Total SDH deficient Para/Pheo 401

Familial PCC/PGL syndromes were initially thought to predispose only to PCCs and PGLs, but several tumors, including GISTs, RCCs, and PAs, have expanded the SDH-associated tumor spectrum. Extensive clinical variability can be expected, even among carriers of an identicalSDH germ-line mutation, with tumor phenotypes being only partially expressed, as in the Carney–Stratakis dyad.
These GISTs are characterized by unique clinicopathological features and biological properties: (i) female preponderance; (ii) gastric location (predilection for the distal stomach/antrum); (iii) common multifocality; (iv) a multinodular/plexiform growth pattern; (v) epithelioid cytomorphology, either pure or combined with a spindle-cell component; (vi) SDHA and/or SDHB immunonegativity; (vii) KIT (and DOG1) immunopositivity despite the lack of KIT/PDGFRA mutations; (viii) metastatic potential (often to lymph nodes); (ix) a relatively indolent clinical course, even in the presence of metastatic disease; and (x) insensitivity to imatinib

Searching to shed new light on this  incurable and often misdiagnosed cancer

Print Print | Sitemap
© 2017 SDH-RA