| Written | 2005-03 | Jacques Boyer |
| Laboratoire d' hématologie, CH du MANS, France |
| Identity |
| ICD-Topo | C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS |
| 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 |
| 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 (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 Name | IGH (Immunoglobulin Heavy) |
| Location | 14q32.33 |
| Result of the chromosomal anomaly |
| 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. |
| 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. |
| Bibliography |
| 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 |
| Citation |
| This paper should be referenced as such : |
| Boyer, J |
| t(1;14)(q25;q32) |
| Atlas Genet Cytogenet Oncol Haematol. 2005;9(2):152-153. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/t0114q25q32LHX4ID1352.html |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(1;14)(q25;q32) IGH/LHX4 | |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| All articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Sep 18 17:19:07 CEST 2017 |
For comments and suggestions or contributions, please contact us