Tumor Samples Harboring Novel Stem Cell Factor FOXD3 Variants

GISTs are one of the most common sarcomas of the gastrointestinal tract with an estimated 5,000-10,000 new cases in the U.S. reported each year. GISTs affect mainly pediatric and young adult patients, and respond poorly to current therapies. Paragangliomas are rare neuroendocrine neoplasms that develop primarily in the abdomen.

Researchers at the National Institute of Child Health and Human Development (NICHD),Section on Endocrinology and Genetics have made available samples of patient-derived gastrointestinal tumors (GIST) and paraganglioma tumors that harbor genetic mutations that have an effect on early stage embrogenesis, which plays a role in the fate of stem cells.

The tumor samples made available herein contain deletions in the FOXD3 gene and display down-regulated FOXD3 protein expression. While the majority of GISTs result from activating mutations in the oncogene receptor tyrosine kinases c-KIT and PDGFRA, these tumor samples do not harbor mutations in c-KIT or PDGFRA ("non-KIT/ PDGFRA-GISTs") and respond poorly to receptor tyrosine kinase inhibitors.