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.
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).