t(1;14)(q25;q32)

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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t(1;14)(q25;q32)

Identity

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

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 Name	LHX4
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 Name	IgH
Location	14q32

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.

External links