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Human Melanoma Metastasis Cell Lines Harboring MITF Mutations

Posted Feb 03 2013 7:00pm

Description of Invention:
Researchers at the NIH have found recurrent somatic mutations in the microphthalmia-associated transcription factor (MITF). Previous studies have linked the MITF pathway to the progression of melanoma, however, little is known about somatic gene mutations in the MITF pathway that could contribute to this progression. The NIH researchers evaluated primary and metastatic melanoma samples for the presence of somatic mutations in two genes of the MITF pathway, MITF and SRY (sex determining region Y)-box 10 (SOX10). They identified 16 previously unidentified somatic mutations in these genes. These studies suggest that MITF and SOX10 genes could be used as diagnostic markers in human metastatic melanoma. Consequently, these cell lines could be used to further investigate the effects of MITF and SOX10 in melanoma and to develop therapeutics targeting this gene and protein.

Applications:
  • Diagnostic array for the detection of MITF mutations.
  • In vitro and in vivo cell model for the MITF mutations in melanoma. This is a useful tool for investigating MITF phenotype biology, including growth, motility, invasion, and metabolite production.


Advantages:
  • Cell lines are derived from melanoma patients.
  • The MITF mutation is frequent in melanomas.


Development Status:
Pre-clinical

Inventors:
Yardena R Samuels (NHGRI)
Steven A Rosenberg (NCI)


Patent Status:
HHS, Reference No. E-023-2012/0

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

Related Technologies:
EIR, Reference No. E-029-2012/0 — Research Tool. Patent protection is not being pursued for this technology.
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
EIR, Reference No. E-024-2012/0 — Research Tool. Patent protection is not being pursued for this technology.
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.


Relevant Publication:
  1. Cronin JC, et al. [ PMID 19422606 ]


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 cdriscol@mail.nih.gov 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
Email: hastingw@mail.nih.gov
Phone: 301-451-7337
Fax: 301-402-0220


Ref No: 2522

Updated: 02/2013

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