Residual Disease in a Novel Xenograft Model of RUNX1-Mutated, Cytogenetically Normal Acute Myeloid Leukemia

PLoS One. 2015 Jul 15;10(7):e0132375. doi: 10.1371/journal.pone.0132375. eCollection 2015.

Abstract

Cytogenetically normal acute myeloid leukemia (CN-AML) patients harboring RUNX1 mutations have a dismal prognosis with anthracycline/cytarabine-based chemotherapy. We aimed to develop an in vivo model of RUNX1-mutated, CN-AML in which the nature of residual disease in this molecular disease subset could be explored. We utilized a well-characterized patient-derived, RUNX1-mutated CN-AML line (CG-SH). Tail vein injection of CG-SH into NOD scid gamma mice led to leukemic engraftment in the bone marrow, spleen, and peripheral blood within 6 weeks. Treatment of leukemic mice with anthracycline/cytarabine-based chemotherapy resulted in clearance of disease from the spleen and peripheral blood, but persistence of disease in the bone marrow as assessed by flow cytometry and secondary transplantation. Whole exome sequencing of CG-SH revealed mutations in ASXL1, CEBPA, GATA2, and SETBP1, not previously reported. We conclude that CG-SH xenografts are a robust, reproducible in vivo model of CN-AML in which to explore mechanisms of chemotherapy resistance and novel therapeutic approaches.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Animals
  • Anthracyclines / pharmacology
  • Anthracyclines / therapeutic use
  • Bone Marrow / pathology
  • Cell Line, Tumor
  • Core Binding Factor Alpha 2 Subunit / genetics*
  • Cytarabine / pharmacology
  • Cytarabine / therapeutic use
  • Cytogenetic Analysis*
  • DNA Mutational Analysis
  • Exome / genetics
  • Humans
  • Leukemia, Myeloid, Acute / drug therapy
  • Leukemia, Myeloid, Acute / genetics*
  • Leukemia, Myeloid, Acute / pathology*
  • Mice, Inbred NOD
  • Mice, SCID
  • Mutation / genetics*
  • Neoplasm, Residual / genetics*
  • Neoplasm, Residual / pathology*
  • Xenograft Model Antitumor Assays

Substances

  • Anthracyclines
  • Core Binding Factor Alpha 2 Subunit
  • Cytarabine