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TRRAP and GRIN2A Mutations for the Diagnosis and Treatment of Melanoma

Posted Aug 04 2011 8:00pm

Description of Invention:
Using whole-exome sequencing of matched normal and metastatic tumor DNAs, researchers at the NIH have identified several novel somatic (e.g., tumor-specific) alterations, many of which have not previously been known to be genetically altered in tumors or linked to melanoma. In particular, the researchers identified a recurrent “hotspot” mutation in the transformation/transcription domain-associated protein (TRRAP) gene, found the glutamate receptor ionotropic N-methyl D-aspartate 2A (GRIN2A) gene as a highly mutated in melanoma, and have shown that the majority of melanoma tumors have alterations in genes encoding members of the glutamate signaling pathway. Therefore, this technology not only provides a comprehensive map of genetic alterations in melanoma, but has important diagnostic and therapeutic applications. Mutations in the TRRAP and GRIN2A genes can be used as diagnostic markers for melanoma and may serve as therapeutic targets in the treatment of melanoma. In addition, glutamate antagonists have previously been shown to inhibit proliferation of human tumor cells, and therefore further investigation of the pathway in melanoma could allow for the identification of new therapeutic proteins that target this pathway.

  • Diagnostic array for the detection of TRRAP and GRIN2A mutations.
  • Method of identifying TRRAP and GRIN2A inhibitors as therapeutic agents to treat malignant melanoma patients.
  • Method of selecting a therapy based on the presence of TRRAP and GRIN2A mutations.

  • Complete analysis of melanoma exome alterations.
  • TRRAP, GRIN2A, and the other identified mutations are highly frequent and/or highly mutated in melanomas.
  • Glutamate antagonists have already been shown to inhibit tumor growth. Thus, this technology may prove useful for the development of novel diagnostic tests and therapeutics.

Development Status:

Yardena R Samuels (NHGRI)
Xiaomu Wei (NHGRI)

Patent Status:
HHS, Reference No. E-013-2011/0
US, Application No. 61/462,471 filed 02 Feb 2011

Research Tool — Patent protection is not being pursued for the TRRAP and GRIN2A melanoma metastatic cell lines.

Related Technologies:
US, Application No. 13/128,125 filed 06 May 2011, Reference No. E-272-2008/0 , European and Australian applications filed; Mutations of the ERBB4 Gene in Melanoma
US, Application No. 61/199,156 filed 12 Nov 2008, Reference No. E-272-2008/0

HHS Reference No. E-229-2010/0 — Research Tool; ERBB4 Mutations Identified in Human Melanoma Metastasis Cell Lines (2690, 2379, 2197, 2183, 2535, 2645, 1770, 2359, 2238, 2319, 2190)
HHS Reference No. E-232-2010/0 — Research Tool; Isocitrate Dehydrogenase 1 (IDH1) R132 Mutation Human Melanoma Metastasis Cell Line

Relevant Publication:
  1. Wei X, et al. [ PMID 21499247 ]

For Licensing Information Please Contact:
Whitney Hastings
NIH Office of Technology Transfer
6011 Executive Blvd. Suite 325,
Rockville, MD 20852
United States
Phone: 301-451-7337
Fax: 301-402-0220

Ref No: 2300

Updated: 08/2011

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