KRAS mutation identified in a patient with melorheostosis and extended lymphangiomatosis treated with sirolimus and trametinib

Clin Genet. 2021 Oct;100(4):484-485. doi: 10.1111/cge.14018. Epub 2021 Jun 30.

Abstract

Detection of KRAS mutation in skin biopsy in a patient with melorheostosis, lymphantiomatosis and vascular stenosis. She was successfully treated with trametinib.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Biopsy
  • Child, Preschool
  • DNA-Binding Proteins / genetics
  • Disease Management
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Germ-Line Mutation
  • Humans
  • Lymphangioleiomyomatosis / diagnosis
  • Lymphangioleiomyomatosis / drug therapy
  • Lymphangioleiomyomatosis / genetics*
  • Melorheostosis / diagnosis
  • Melorheostosis / drug therapy
  • Melorheostosis / genetics*
  • Membrane Proteins / genetics
  • Mutation*
  • Proto-Oncogene Proteins p21(ras) / genetics*
  • Pyridones
  • Pyrimidinones
  • Sirolimus
  • Tomography, X-Ray Computed
  • Treatment Outcome

Substances

  • DNA-Binding Proteins
  • KRAS protein, human
  • LEMD3 protein, human
  • Membrane Proteins
  • Pyridones
  • Pyrimidinones
  • trametinib
  • Proto-Oncogene Proteins p21(ras)
  • Sirolimus