Patent · US Active

Materials and methods for suppressing and/or treating neurofibroma and related tumors

US9345704B2 · kind B2 · utility

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2References
13Claims
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Key dates

Filing dateNov 18, 2014
Grant dateMay 24, 2016
Priority date
Expiry dateNov 18, 2034

Classification

  • Technology area (CPC C)Chemistry; Metallurgy
  • CPC primaryC07D401/14
  • WIPO fieldPharmaceuticals
  • WIPO sectorChemistry

Abstract

Germline mutations in the NF1 tumor suppressor gene cause Von Recklinghausen's neurofibromatosis type 1 (NF1), a common genetic disorder of the nervous system characterized by plexiform neurofibroma development. Using adoptive transfer of hematopoietic cells, we establish that NF1 heterozygosity of bone marrow derived cells in the tumor microenvironment is sufficient to allow neurofibroma progression in the context of Schwann cell nullizygosity. Further, genetic or pharmacologic attenuation of the c-kit signaling pathway in hematopoietic cells greatly diminishes neurofibroma initiation and progression. These studies identify haploinsufficient hematopoietic cells and the c-kit receptor as therapeutic targets for preventing plexiform neurofibromas and implicate mast cells as critical mediators of tumor initiation. Administering therapeutically effective doses of a tyrosine kinase inhibitor such as the compound imatinib mesylate to a patient in need thereof to treat tumors in a human patient afflicted with plexiform neurofibroma.

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