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

Written2019-05Tatiana Gindina
R.M. Gorbacheva Memorial Institute of Children Oncology Hematology and Transplantation at First Pavlov Saint-Petersburg State Medical University, Saint-Petersburg, Russia /

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

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

(Note : for Links provided by Atlas : click)


ICD-Topo C420,C421,C424
ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
Atlas_Id 1830

Clinics and Pathology

Disease B progenitor acute lymphoblastic leukemia.
Phenotype / cell stem 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).
Epidemiology Only 8 cases to date (Gu et al., 2016; Lilljebjorn et al., 2016; Liu et al., 2016; Yasuda et al., 2016).
Prognosis The outcome of MEF2D-rearranged ALL was inferior to that of other ALL subtypes (Gu et al., 2016).

Genes involved and Proteins

Gene NameMEF2D (Myocyte Enhancer Factor 2D)
Location 1q22
Protein 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 NameHNRNPUL1 (Heterogeneous nuclear ribonucleoprotein U-like 1)
Location 19p13.2
Protein 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

Hybrid gene
Description The genes were fused in-frame between exon 8 of MEF2D and exon 12 of HNRNPUL1.
Fusion Protein
Description The amino terminus of MEF2D was fused in frame with the carboxy-terminal portion of HNRNPUL1.
Oncogenesis 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).


Genomic analyses identify recurrent MEF2D fusions in acute lymphoblastic leukaemia
Gu Z, Churchman M, Roberts K, Li Y, Liu Y, Harvey RC, McCastlain K, Reshmi SC, Payne-Turner D, Iacobucci I, Shao Y, Chen IM, Valentine M, Pei D, Mungall KL, Mungall AJ, Ma Y, Moore R, Marra M, Stonerock E, Gastier-Foster JM, Devidas M, Dai Y, Wood B, Borowitz M, Larsen EE, Maloney K, Mattano LA Jr, Angiolillo A, Salzer WL, Burke MJ, Gianni F, Spinelli O, Radich JP, Minden MD, Moorman AV, Patel B, Fielding AK, Rowe JM, Luger SM, Bhatia R, Aldoss I, Forman SJ, Kohlschmidt J, Mrózek K, Marcucci G, Bloomfield CD, Stock W, Kornblau S, Kantarjian HM, Konopleva M, Paietta E, Willman CL, Loh ML, Hunger SP, Mullighan CG
Nat Commun 2016 Nov 8;7:13331
PMID 27824051
Identification of ETV6-RUNX1-like and DUX4-rearranged subtypes in paediatric B-cell precursor acute lymphoblastic leukaemia
Lilljebjörn H, Henningsson R, Hyrenius-Wittsten A, Olsson L, Orsmark-Pietras C, von Palffy S, Askmyr M, Rissler M, Schrappe M, Cario G, Castor A, Pronk CJ, Behrendtz M, Mitelman F, Johansson B, Paulsson K, Andersson AK, Fontes M, Fioretos T
Nat Commun 2016 Jun 6;7:11790
PMID 27265895
Genomic Profiling of Adult and Pediatric B-cell Acute Lymphoblastic Leukemia
Liu YF, Wang BY, Zhang WN, Huang JY, Li BS, Zhang M, Jiang L, Li JF, Wang MJ, Dai YJ, Zhang ZG, Wang Q, Kong J, Chen B, Zhu YM, Weng XQ, Shen ZX, Li JM, Wang J, Yan XJ, Li Y, Liang YM, Liu L, Chen XQ, Zhang WG, Yan JS, Hu JD, Shen SH, Chen J, Gu LJ, Pei D, Li Y, Wu G, Zhou X, Ren RB, Cheng C, Yang JJ, Wang KK, Wang SY, Zhang J, Mi JQ, Pui CH, Tang JY, Chen Z, Chen SJ
EBioMedicine 2016 Jun;8:173-183
PMID 27428428
Cloning and functional characterization of MEF2D/DAZAP1 and DAZAP1/MEF2D fusion proteins created by a variant t(1;19)(q23;p13
Prima V, Gore L, Caires A, Boomer T, Yoshinari M, Imaizumi M, Varella-Garcia M, Hunger SP
3) in acute lymphoblastic leukemia Leukemia
PMID 15744350
Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults
Yasuda T, Tsuzuki S, Kawazu M, Hayakawa F, Kojima S, Ueno T, Imoto N, Kohsaka S, Kunita A, Doi K, Sakura T, Yujiri T, Kondo E, Fujimaki K, Ueda Y, Aoyama Y, Ohtake S, Takita J, Sai E, Taniwaki M, Kurokawa M, Morishita S, Fukayama M, Kiyoi H, Miyazaki Y, Naoe T, Mano H
Nat Genet 2016 May;48(5):569-74
PMID 27019113
Identification of a novel fusion gene in a pre-B acute lymphoblastic leukemia with t(1;19)(q23;p13)
Yuki Y, Imoto I, Imaizumi M, Hibi S, Kaneko Y, Amagasa T, Inazawa J
Cancer Sci 2004 Jun;95(6):503-7
PMID 15182431


This paper should be referenced as such :
Tatiana Gindina
t(1;19)(q22;p13.2) MEF2D/HNRNPUL1
Atlas Genet Cytogenet Oncol Haematol. 2020;24(3):144-145.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(1;19)(q22;p13) MEF2D/HNRNPUL1

External links

Mitelman databaset(1;19)(q22;p13)
arrayMap (UZH-SIB Zurich)Morph ( 9811/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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