t(1;19)(q22;p13.2) MEF2D/HNRNPUL1

2019-05-01   Tatiana Gindina 

1.R.M. Gorbacheva Memorial Institute of Children Oncology Hematology and Transplantation at First Pavlov Saint-Petersburg State Medical University, Saint-Petersburg, Russia / tatgindina@gmail.com


Review on t(1;19)(q22;p13.2), with data on the genes involved

Clinics and Pathology


B progenitor acute lymphoblastic leukemia.

Phenotype stem cell origin

The immunophenotype of MEF2D-rearranged ALL is characterized by weak or absent expression of CD10 and high expression of CD38, but these features are uncommon in B-cell precursor ALL (Gu et al., 2016).


Only 8 cases to date (Gu et al., 2016; Lilljebjorn et al., 2016; Liu et al., 2016; Yasuda et al., 2016).


The outcome of MEF2D-rearranged ALL was inferior to that of other ALL subtypes (Gu et al., 2016).

Genes Involved and Proteins

Gene name
MEF2D (Myocyte Enhancer Factor 2D)
Protein description
MEF2D belongs to the MADS-box family of transcription factors; this molecule binds as a homo- or hetero-dimer to the MEF2 element present in the regulatory regions of numerous muscle-specific and growth-factor and stress-induced genes. A remarkable increase in expression levels of MEF2A and MEF2D has been reported during differentiation into monocytes using the promyeloid HL-60 cell line (Yuki et al., 2004). In mouse models, MEF2D was identified as a candidate oncogene involved in the pathogenesis of leukemia. It is assumed, that native MEF2D has latent transforming properties, which can be unmasked via aberrant protein expression (Prima et al., 2005).
Gene name
HNRNPUL1 (Heterogeneous nuclear ribonucleoprotein U-like 1)
Protein description
HNRNPUL1 is a nuclear RNA-binding protein which belongs to the heterogeneous nuclear ribonucleoprotein (hnRNP) family. HNRNPUL1 acts as a basic transcriptional regulator and may exert a role in mRNA processing, nucleocytoplasmic RNA transport and DNA repair.

Result of the Chromosomal Anomaly


The genes were fused in-frame between exon 8 of MEF2D and exon 12 of HNRNPUL1.The amino terminus of MEF2D was fused in frame with the carboxy-terminal portion of HNRNPUL1.


MEF2D/HNRNPUL1 fusion preserves the MEF2D MADS-box domain that mediates DNA binding and potentially dimerization. Thereby, aberrant function mediated by MEF2D transcriptional activation is likely to be central in leukaemogenesis. The MEF2D/HNRNPUL1 fusion protein was significantly more potent in activating expression than wild-type MEF2D. The rearrangement results in enhanced MEF2D transcriptional activity, lymphoid transformation, activation of HDAC9 expression and sensitivity to histone deacetylase inhibitor treatment (Gu et al., 2016).

Highly cited references

Pubmed IDYearTitleCitations
301710272019Clinical and molecular characteristics of MEF2D fusion-positive B-cell precursor acute lymphoblastic leukemia in childhood, including a novel translocation resulting in MEF2D-HNRNPH1 gene fusion.21
325049222020Staurosporine and venetoclax induce the caspase-dependent proteolysis of MEF2D-fusion proteins and apoptosis in MEF2D-fusion (+) ALL cells.3
355446032022Functional, structural and molecular characterizations of leukemogenic driver MEF2D-HNRNPUL1 fusion.0
353547972022Integrative multi-omics and drug response profiling of childhood acute lymphoblastic leukemia cell lines.0


Pubmed IDLast YearTitleAuthors
278240512016Genomic analyses identify recurrent MEF2D fusions in acute lymphoblastic leukaemia.Gu Z et al
272658952016Identification of ETV6-RUNX1-like and DUX4-rearranged subtypes in paediatric B-cell precursor acute lymphoblastic leukaemia.Lilljebjörn H et al
274284282016Genomic Profiling of Adult and Pediatric B-cell Acute Lymphoblastic Leukemia.Liu YF et al
157443502005Cloning and functional characterization of MEF2D/DAZAP1 and DAZAP1/MEF2D fusion proteins created by a variant t(1;19)(q23;p13.3) in acute lymphoblastic leukemia.Prima V et al
270191132016Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults.Yasuda T et al
151824312004Identification of a novel fusion gene in a pre-B acute lymphoblastic leukemia with t(1;19)(q23;p13).Yuki Y et al


Fusion gene



Tatiana Gindina

t(1;19)(q22;p13.2) MEF2D/HNRNPUL1

Atlas Genet Cytogenet Oncol Haematol. 2019-05-01

Online version: http://atlasgeneticsoncology.org/haematological/1830/t(1;19)(q22;p13-2)