The spleen microenvironment influences disease transformation in a mouse model of KITD816V-dependent myeloproliferative neoplasm

Sci Rep. 2017 Jan 27:7:41427. doi: 10.1038/srep41427.

Abstract

Activating mutations leading to ligand-independent signaling of the stem cell factor receptor KIT are associated with several hematopoietic malignancies. One of the most common alterations is the D816V mutation. In this study, we characterized mice, which conditionally express the humanized KITD816V receptor in the adult hematopoietic system to determine the pathological consequences of unrestrained KIT signaling during blood cell development. We found that KITD816V mutant animals acquired a myeloproliferative neoplasm similar to polycythemia vera, marked by a massive increase in red blood cells and severe splenomegaly caused by excessive extramedullary erythropoiesis. Moreover, we found mobilization of stem cells from bone marrow to the spleen. Splenectomy prior to KITD816V induction prevented expansion of red blood cells, but rapidly lead to a state of aplastic anemia and bone marrow fibrosis, reminiscent of post polycythemic myeloid metaplasia, the spent phase of polycythemia vera. Our results show that the extramedullary hematopoietic niche microenvironment significantly influences disease outcome in KITD816V mutant mice, turning this model a valuable tool for studying the interplay between functionally abnormal hematopoietic cells and their microenvironment during development of polycythemia vera-like disease and myelofibrosis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Bone Marrow Cells / pathology
  • Bone Marrow Neoplasms / blood
  • Bone Marrow Neoplasms / genetics*
  • Bone Marrow Neoplasms / pathology*
  • Cell Proliferation
  • Cell Transformation, Neoplastic / genetics
  • Cell Transformation, Neoplastic / pathology*
  • Disease Models, Animal
  • Erythrocytes / metabolism
  • Erythrocytes / pathology
  • Fibrosis
  • GATA2 Transcription Factor / metabolism
  • Gene Expression Regulation, Neoplastic
  • Hematopoiesis
  • Hematopoiesis, Extramedullary
  • Hematopoietic Stem Cells / metabolism
  • Mice, Inbred C57BL
  • Phenotype
  • Polycythemia Vera / genetics
  • Polycythemia Vera / pathology
  • Proto-Oncogene Proteins c-kit / genetics*
  • Signal Transduction
  • Spleen / pathology*
  • Spleen / surgery
  • Splenomegaly / pathology
  • Tumor Microenvironment*

Substances

  • GATA2 Transcription Factor
  • Proto-Oncogene Proteins c-kit