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t(1;14)(q25;q32) IGH/LHX4

Written2005-03Jacques Boyer
Laboratoire d' hématologie, CH du MANS, France

(Note : for Links provided by Atlas : click)


ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1352
Note Chromosome band 1q21-25 is one of the hotspots of chromosomal abnormalities in hematological malignancy. LHX4 gene at 1q25 is a novel gene coding for LIM proteins.

Clinics and Pathology

Disease Only two cases : Case 1: acute pre-B lymphoblastic leukemia (ALL); case 2: biphenotypic blast crisis of a chronic myelogenous leukemia(CML)
Epidemiology rare
Clinics Case 1: A 53-year-old woman with ALL; case 2: A 52-year-old in CML blast crisis


Cytogenetics Morphological dup(1)(q21-25) is frequently detected in ALL of B-cell lineage
Additional anomalies case 1: associated with t(9;22)(q23 ?;q11) : the breakpoint at 9q23 reported in this paper needs to be confirmed; case 2: 46,XY,t(9;22)(q34;q11)/46, XY,t(1;14(q25;q32), del(20)(q11;q13.3) / 46,XY, t(1;14)(q25;q32) , add(19)(p13).

Genes involved and Proteins

Gene NameLHX4 (LIM homeobox 4)
Location 1q25.2
Note Alias : Gsh-4. LHX4 gene is a member of the LIM-homeobox gene.
Dna / Rna DNA : 44,66 kb and 6 exons. RNA : 1913 bp
Protein LHX4 protein (40,8kDa, 390 aa) is very close to LHX3.The human LHX4 includes one tandem pair of zinc-finger LIM motifs and one adjacent homeodomain.
Gene NameIGH (Immunoglobulin Heavy)
Location 14q32.33

Result of the chromosomal anomaly

Hybrid gene
Description case 1: the enhancer region of the IgH gene is fused to the 5¹ regulatory region of the Lhx4 gene in a head-to-head configuration. LHX4 mRNA is expressed at high levels; case 2: the breakpoint fuses the J4 segment of IgH to sequences located 16kb from LHX4 Exon 1 in a head-to-head configuration. LHX4 mRNA is expressed at high levels.
Fusion Protein
Note No fusion protein
Oncogenesis LHX4 homeodomain could play an important role as transcriptional regulators in cell regulation, but there is no report about the impairment of hematopoiesis in LHX4 deficient mice and human. There is no report about the transformation activity in the LHX4 gene. Overexpression of LXH2 has been reported in chronic myeloid leukemias and ALL.

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.


A novel chromosomal translocation t(1;14)(q25;q32) in pre-B acute lymphoblastic leukemia involves the LIM homeodomain protein gene, Lhx4.
Kawamata N, Sakajiri S, Sugimoto KJ, Isobe Y, Kobayashi H, Oshimi K
Oncogene. 2002 ; 21 (32) : 4983-4991.
PMID 12118377
Aberrant expression of the LHX4 LIM-homeobox gene caused by t(1;14)(q25;q32) in chronic myelogenous leukemia in biphenotypic blast crisis.
Yamaguchi M, Yamamoto K, Miura O
Genes, chromosomes & cancer. 2003 ; 38 (3) : 269-273.
PMID 14506703


This paper should be referenced as such :
Boyer, J
Atlas Genet Cytogenet Oncol Haematol. 2005;9(2):152-153.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(1;14)(q25;q32) IGH/LHX4

External links

IGH (14q32.33) LHX4 (1q25.2)

Mitelman databaset(1;14)(q25;q32)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9811/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseIGH/LHX4 [MCList]  IGH (14q32.33) LHX4 (1q25.2)
REVIEW articlesautomatic search in PubMed
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