Pediatric-like GIST

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.