Persistent altered fusion transcript splicing identifies RUNX1-RUNX1T1+ AML patients likely to relapse

Eur J Haematol. 2010 Feb 1;84(2):128-32. doi: 10.1111/j.1600-0609.2009.01371.x. Epub 2009 Nov 5.

Abstract

In acute myeloid leukemia (AML) mouse models, the RUNX1-RUNX1T1 fusion protein has failed to produce leukemia by itself, but alternative splicing of exon 9a of the RUNX1-RUNX1T1 fusion transcript (FT) has recently been shown to enhance the leukemogenic potential. We have analyzed 138 diagnosis and follow-up samples from 13 RUNX1-RUNX1T1+ patients as well as diagnosis samples from 13 RUNX1-RUNX1T1- AML patients and 26 healthy donors. Levels of native RUNX1T1 mRNA were low in both healthy and RUNX1-RUNX1T1-negative AML samples. Likewise, the ratio between RUNX1T1 mRNA harboring exon 9a and lacking exon 9a was low and tightly regulated (0.017-0.11). In contrast, 11/13 RUNX1-RUNX1T1-positive AML patients displayed high and variable ratios of FT ranging from 0.05 to 0.46 (P < 0.001, Wilcoxon rank-sum test), indicating altered exon 9a splicing in these patients. Importantly, patients who remained in continuous complete remission displayed a faster disappearance of the RUNX1-RUNX1T1 exon 9a splice variant compared to patients bound to relapse (P = 0.02). In conclusion, alternative splicing seems to be part of the leukemogenic process in the majority of RUNX1-RUNX1T1-positive AML patients, and splice variant kinetics under cytoreduction may be a predictor for patients prone to relapse.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Animals
  • Base Sequence
  • Child
  • Child, Preschool
  • Core Binding Factor Alpha 2 Subunit / biosynthesis*
  • Core Binding Factor Alpha 2 Subunit / genetics
  • Exons*
  • Female
  • Follow-Up Studies
  • Humans
  • Leukemia, Myeloid, Acute / genetics
  • Leukemia, Myeloid, Acute / metabolism*
  • Male
  • Mice
  • Middle Aged
  • Oncogene Proteins, Fusion / biosynthesis*
  • Oncogene Proteins, Fusion / genetics
  • Proto-Oncogene Proteins / biosynthesis
  • Proto-Oncogene Proteins / genetics
  • RNA Splicing*
  • RNA, Messenger / biosynthesis*
  • RNA, Messenger / genetics
  • RNA, Neoplasm / biosynthesis*
  • RNA, Neoplasm / genetics
  • RUNX1 Translocation Partner 1 Protein
  • Recurrence
  • Remission Induction
  • Sequence Deletion
  • Transcription Factors / biosynthesis
  • Transcription Factors / genetics

Substances

  • AML1-ETO fusion protein, human
  • Core Binding Factor Alpha 2 Subunit
  • Oncogene Proteins, Fusion
  • Proto-Oncogene Proteins
  • RNA, Messenger
  • RNA, Neoplasm
  • RUNX1 Translocation Partner 1 Protein
  • RUNX1T1 protein, human
  • Transcription Factors