t(11;21)(q13;q22) RUNX1/MACROD1

2009-12-01   Yongquan Xue , Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France (JLH); Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University, Suzhou, PR China (YX)

Clinics and Pathology


Myeloid malignancies


Three cases of t(11;21)(q13;q22) in myeloid malignancies are available to date: a 63-year-old female patient with AML evolving from myelodysplastic syndrome (MDS) (Imagama et al., 2007), a 65-year-old male patient with a M2 acute myeloid leukemia (M2-AML) (Dai et al., 2007), and a 70-year-old male patient with a chronic myelogenous leukemia (CML). The t(11;21) was found during transformation into blastic crisis (BC-CML) and in the subsequent reversion to the chronic phase (Wang et al., 1988).


The MDS-to-AML case relapsed two years after remission. The M2-AML case died 10 months after diagnosis. The CML case was remaining in remission of blast crisis for 4 months at the time of the report.

Genes Involved and Proteins

The involvement of RUNX1 was proved in the two AML cases; the involvement of MACROD1/LRP16 as the partner of RUNX1 was established in the case described by Imagama et al.
Gene name
MACROD1 (MACRO domain containing 1)
MACROD1 is also known as LRP16
Protein description
MACROD1/LRP16 gene has been characterized as an estrogen-responsive gene. LRP16 is required for ERalpha signaling transduction by functioning as an ERalpha coactivator (Han et al., 2007; Han et al., 2008). MACROD1/LRP16-overexpression promotes the cell cycle, and cell proliferation (Yang et al., 2009).
Gene name
RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))
Dna rna description
Transcription from telomere to centromere.
Protein description
Contains the RUNT binding domain at 5 portion and the transactivation domain at 3 portion. Forms heterodimers; widely expressed; nuclear localization; a transcription factor and critical regulator of hematopoietic-cell development.

Result of the Chromosomal Anomaly


In the case described by Imagama et al. 2007, the translocation fuses RUNX1 exon 5 or exon 6 to MACROD1 exon 2, suggesting that the RUNX1 breakpoint lies in intron 6 and that alternative fusion splice variants are generated. The reciprocal MACROD1-RUNX1 fusion was also detected.


Pubmed IDLast YearTitleAuthors
178546662007Two novel translocations disrupt the RUNX1 gene in acute myeloid leukemia.Dai H et al
182063662008GC-rich promoter elements maximally confers estrogen-induced transactivation of LRP16 gene through ERalpha/Sp1 interaction in MCF-7 cells.Han WD et al
179141042007Estrogenically regulated LRP16 interacts with estrogen receptor alpha and enhances the receptor's transcriptional activity.Han WD et al
175327672007LRP16 is fused to RUNX1 in monocytic leukemia cell line with t(11;21)(q13;q22).Imagama S et al
31623921988A t (11;21) (13;q22) in Ph-positive chronic myelogenous leukemia.Wang TY et al
199586232009[LRP16 gene function based on bioinformatic analysis].Yang B et al


Fusion gene

RUNX1/MACROD1 RUNX1 (21q22.12) MACROD1 (11q13.1) M t(11;21)(q13;q22)|RUNX1/MACROD1 RUNX1 (21q22.12) MACROD1 (11q13.1) TIC


Yongquan Xue ; Jean-Loup Huret

t(11;21)(q13;q22) RUNX1/MACROD1

Atlas Genet Cytogenet Oncol Haematol. 2009-12-01

Online version: http://atlasgeneticsoncology.org/haematological/1505/t(11;21)(q13;q22)