Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis

Blood. 2011 Mar 10;117(10):2883-6. doi: 10.1182/blood-2010-07-295501. Epub 2010 Nov 15.

Abstract

Somatic gain-of-function mutations in members of the RAS subfamily of small guanosine triphosphatases are found in > 30% of all human cancers. We recently described a syndrome of chronic nonmalignant lymphadenopathy, splenomegaly, and autoimmunity associated with a mutation in NRAS affecting hematopoietic cells, and initially we classified the disease as a variant of the autoimmune lymphoproliferative syndrome. Here, we demonstrate that somatic mutations in the related KRAS gene can also be associated with a nonmalignant syndrome of autoimmunity and breakdown of leukocyte homeostasis. The activating KRAS mutation impaired cytokine withdrawal-induced T-cell apoptosis through the suppression of the proapoptotic protein BCL-2 interacting mediator of cell death and facilitated proliferation through p27(kip1) down-regulation. These defects could be corrected in vitro by mitogen-activated protein kinase/extracellular signal-regulated kinase kinase 1 or phosphatidyl inositol-3 kinase inhibition. We suggest the use of the term RAS-associated autoimmune leukoproliferative disease to differentiate this disorder from autoimmune lymphoproliferative syndrome.

Publication types

  • Case Reports
  • Research Support, N.I.H., Intramural

MeSH terms

  • Autoimmune Diseases / genetics*
  • Autoimmune Diseases / immunology
  • Autoimmune Diseases / pathology
  • Autoimmunity / genetics
  • Base Sequence
  • Cell Separation
  • Child
  • Child, Preschool
  • Female
  • Flow Cytometry
  • Homeostasis* / genetics
  • Homeostasis* / immunology
  • Humans
  • Immunoproliferative Disorders / genetics*
  • Immunoproliferative Disorders / immunology
  • Immunoproliferative Disorders / pathology
  • Leukocytes / immunology
  • Leukocytes / pathology*
  • Molecular Sequence Data
  • Mutation*
  • Proto-Oncogene Proteins / genetics*
  • Proto-Oncogene Proteins p21(ras)
  • Syndrome
  • ras Proteins / genetics*

Substances

  • KRAS protein, human
  • Proto-Oncogene Proteins
  • Proto-Oncogene Proteins p21(ras)
  • ras Proteins