Pediatric GISTer, Sile Bao graduated on May 19 and already started her first job at Princeton University in July. Ashley Young Vincent, gave birth to a beautiful baby girl named Lily on June 24. GISTer Mo Collins, married her partner, Alex Skuby on June 25 in a lovely ceremony.
Family planning can be one of the hardest decisions patients with GIST make, but for Carolina Ponce Williams the decision was easy. At high risk for progression, Carolina longed to start a family. So she decided to adopt.
Pediatric GIST patient Jason DeLorenzo welcomes a baby boy! Jill and Jason welcomed their firstborn son and first child, Simon Joseph. He was born at 6:58am on 3/24/13. 6 lbs. 11oz. 20 inches long. Simon is a wide-eyed, very attentive and curious baby.
Jason DeLorenzo, LRG member and pediatric GISTer, got married on November 17, 2012 to Jill Medhus.
For many years, wild-type GIST tumors were a mystery. In 2007, Barbara Pasini, J. Aidan Carney, Constantine Stratakis and colleagues identified the first mutations in pediatric GIST tumors in a protein called succinate dehydrogenase (SDH). Coding (instructions) for making the SDH protein is contained in four subunits (genes), SDHA, SDHB, SHDC and SDHD. The group, led by Constantine Stratakis, initially reported mutations in three of the four subunits; SDHB, SHDC and SDHD. SHDA remained a mystery.
The Clinic is a collaboration between clinicians and researchers to collect data, investigate and develop treatment for Gastrointestinal Stromal Tumor patients who do not have either c-KIT or Platelet -Derived Growth Factor Receptor alpha (PDGFRA) mutations. This includes patients with Carney’s Triad, Carney- Stratakis Dyad, and Wildtype GIST. These tumors frequently stain negatively for a protein called Succinate Dehydrogenase, a condition referred to as being Succinate Dehydrogenasedeficient (SDH-deficient). There are currently three clinical trials in development for this population.
A new gene panel takes mutation testing to a new level. The panel tests for mutations in 23 genes at once will help to properly classify wild-type GIST patients. Working with next generation sequencing [...]
Since he turned 14, Jasper Smit of the Netherlands has been searching for patients like him. This is very difficult because Carney’s Triad is an extremely rare syndrome. Worldwide there are about 30 known patients with a ‘complete’ Carney’s Triad (GISTs, pulmonary chondromas, paragangliomas). Incomplete Carney’s Triad affects less than 100 patients in the world. This means that they have two of the three types of tumor (mostly GISTs and pulmonary chondromas). In his own words, here is Jasper’s story.
GIST is a disease with a number of subtypes, and is beginning to be increasingly viewed as a “family of diseases”. One particular form of the disease is commonly known as “Pediatric GIST” - in this form the mutation occurs when the patient is either a child or young adult (but may not be discovered until later).
A new phase I/II clinical trial will soon be opening for pediatric and young adults with GIST. This trial will be testing Sutent (sunitinib), the currently approved second-line treatment for GIST, in young patients. At the current time, the optimal dose for Sutent is not known for pediatric patients. This trial will help assess the safety and tolerability of Sutent in young patients.