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Human Melanoma Metastasis Cell Lines Harboring TRRAP, GRIN2A, and PLCB4 Mutations

Posted Feb 03 2013 7:00pm

Description of Invention:
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, identified 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 alternations in genes encoding members of the glutamate signaling pathway, such as phospholipase C, beta 4 (PLCB4). Therefore, this technology not only provides a comprehensive map of genetic alterations in melanoma, but has important diagnostic and therapeutic applications.

Available for licensing are several melanoma cell lines that harbor TRRAP, GRIN2A, and PLCB4 mutations. These cell lines provide useful and efficient tools for studying melanoma and can be used in the development of specific therapeutics for patients harboring these mutations. Specifically, these cell lines could be used to develop inhibitors to limit tumor growth and further understand melanoma and the biology of these genes.

  • Diagnostic array for the detection of TRRAP, GRIN2A, and PLCB4 mutations.
  • Method of identifying TRRAP, GRIN2A, and PLCB4 inhibitors as therapeutic agents to treat malignant melanoma patients.
  • In vitro and in vivo cell model for understanding the biology of TRRAP, GRIN2A, and PLCB4, including growth, motility, invasion, and metabolite production.

  • Cell lines are derived from melanoma patients.
  • TRRAP, GRIN2A, and PLCB4 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)
Steven A Rosenberg (NCI)

Patent Status:
HHS, Reference No. E-024-2012/0

Research Tool — Patent protection is not being pursued for the TRRAP, GRIN2A, PLCB4 melanoma metastatic cell lines.

Related Technologies:
US, Application No. 61/462,471 filed 02 Feb 2011, Reference No. E-013-2011/0
PCT, Application No. PCT/US2012/022687 filed 26 Jan 2012, Reference No. E-013-2011/0
US, Application No. 61/199,156 filed 12 Nov 2008, Reference No. E-272-2008/0
US, Application No. 13/128,125 filed 06 May 2011, Reference No. E-272-2008/0
EIR, Reference No. E-229-2010/0 — Research Tool. Patent protection is not being pursued for this technology.
EIR, Reference No. E-232-2010/0 — Research Tool. Patent protection is not being pursued for this technology.
EIR, Reference No. E-029-2012/0 — Research Tool. Patent protection is not being pursued for this technology.
US, Application No. 61/385,925 filed 23 Sep 2010, Reference No. E-244-2010/0
PCT, Application No. PCT/US2011/052032 filed 16 Sep 2011, Reference No. E-244-2010/0

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

Collaborative Research Opportunity:
The NHGRI is seeking statements of capability or interest from parties interested in collaborative research to further develop, evaluate or commercialize this technology. For collaboration opportunities, please contact Claire Driscoll, Director, NHGRI Technology Transfer Office, at or 301-594-2235.

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: 2523

Updated: 02/2013

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