Office of Technology Transfer – University of Michigan

MAP2K1 (MEK1) mutations in Langerhans Cell Histiocytosis

Technology #6281

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Kojo Elenitoba-Johnson
Managed By
Ed Pagani
Associate Director, Health Technologies 734-763-3558
Patent Protection
US Patent Pending
US Patent Pending

Langerhans Cell Histiocytosis (LCH) is a rare and complicated disease. The pathophysiology of this disorder is still debated. Around half of all LCH cases present with a mutation in the gene BRAF resulting in a constitutively active protein. Until recently the other half of patients were left without knowledge of what is driving the disease. This technology identifies another driving mutation that is present in around 50% of all BRAF negative LCH cases. The most exciting aspect of this discovery is there is already a clinically approved therapeutic which targets this protein.

New mutation identified in a large portion of Langerhans cell histiocytosis patients

Langerhans Cell Histiocytosis (LCH) is a complex and rare disease. More often observed in children and adolescents this disease can present itself relatively benign or extremely aggressive. There is no clinically approved therapy for the direct treatment of LCH, however recent advances in the genetic understanding of LCH has led to some exciting options for the future. One mutation that is found in about 50% of LCH cases is a mutation in a protein called BRAF. There are clinically available drugs which target BRAF and those have shown to provide benefit for patients with this mutation. However the remaining 50% which do not have the BRAF mutation are without targeted therapies. This technology however identifies that about half of the LCH cases that do not have the BRAF mutation have a mutation in another protein. Even more intriguing is there is also a clinically approved drug which targets this gene. This technology could be used to identify patients with LCH which would likely benefit from this treatment.


  • Diagnose BRAF negative LCH
  • Permit treatment of LCH with MAP2K1 inhibitors


  • Potential for safer, more targeted therapies
  • Prognostic marker could anticipate an aggressive disease early