Keywords: Research Tools, Clinical Samples, Gastrointestinal Tumors (GIST), Paraganglioma Tumors, FOXD3, Stem Cells
The National Institute of Child Health and Human Development Endocrinology & Genetics Section is seeking statements of capability or interest from parties interested in collaborative research to further develop, evaluate, or commercialize tumor samples harboring novel stem cell factor FOXD3 variants.
Description of Invention:
Researchers at the National Institute of Child Health and Human Development (NICHD), NIH, 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. 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.
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.
Research Tool. Patent protection is not being pursued for this technology.
Joseph Conrad, Ph.D., J.D.
NCI Technology Transfer Center
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