Human Melanoma Metastasis Cell Lines Harboring MITF Mutations

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.

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

Development Stage:

Related Invention(s):


Yardena Samuels (NHGRI)  ➽ more inventions...

Steven Rosenberg (NCI)  ➽ more inventions...

Intellectual Property:
Research Tool - Patent protection is not being pursued for the MITF melanoma metastatic cell lines.

Cronin JC, et al. PMID 19422606

Collaboration 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.

Licensing Contact:
Eggerton Campbell, Ph.D.
Phone: 301-402-1648

OTT Reference No: E-023-2012-0
Updated: May 8, 2018