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t(X;7)(q22;q34) IRS4/TRB

Written2012-06Kristina Karrman
Department of Clinical Genetics, Lund University Hospital, SE-221 85 Lund, Sweden

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9837/3 T lymphoblastic leukaemia/lymphoma
Atlas_Id 1610
 
  Partial karyotype of the t(X;7)(q22;q34) showing the normal chromosome 7 (chr(7)), the der(7)t(X;7) and the der(X)t(X;7).

Clinics and Pathology

Disease T-cell acute lymphoblastic leukemia
Epidemiology Very rare.
Clinics A 12-year-old boy presented with a white blood cell count of 130 x 109/l and haemoglobin of 97g/l. The bone marrow was dominated by lymphoblasts positive for CD2, CD7 and CD3 but negative for CD4 and CD8. A diagnose of T-cell acute lymphoblastic leukaemia was made.
Cytology Lymphoblasts; positive for CD2/CD3/CD7, negative for CD4/CD8.

Cytogenetics

Cytogenetics Morphological t(X;7)(q22;q34)
 
  The reciprocal nature of the t(X;7) was confirmed with metaphase FISH using the Poseidon whole chromosome probes (Kreatech Diagnostics, Amsterdam, The Netherlands) for chromosomes 7 (green) and X (red).
Cytogenetics Molecular Rearrangement of the TRB@ and IRS4 loci was detected by FISH. Probes used for detecting TRB@ rearrangement: RP11-1220K2 and RP11-556I13. Probes used for detecting IRS4 rearrangement: RP11-815E21 and RP11-105F23. RQ-PCR and Western blot analysis confirmed overexpression of IRS4 at the gene and protein level.
Additional anomalies Deletion of 6q, STIL/TAL1 fusion and NOTCH1 mutation.

Genes involved and Proteins

Gene Name IRS4
Location Xq22
Note The IRS family includes IRS1-4 which play a central role in maintaining basic cellular functions, e.g., growth and metabolism. They act as mediators between multiple growth factor receptors that possess tyrosine kinase activity, such as the insulin and insulin growth factor receptors, and a complex network of intracellular signalling molecules, resulting in activation of, for example, the PI3K and RAS/ERK pathways and subsequent transcription of target genes. Relatively little is known about the tumorigenic potential of the IRS proteins. Expression of IRS1, IRS2 or IRS4 in the 32D haematopoietic cell line leads to proliferation of the myeloid progenitor cells and expression of activated IRS4 has recently been demonstrated in the human hepatoblastoma cell line HepG2, with inhibition of IRS4 resulting in diminished growth.
Gene Name TRB

Result of the chromosomal anomaly

Hybrid gene
Note The translocation does not result in a fusion gene. The t(X;7) results in juxtaposition of the TRB@ to the IRS4 leading to dysregulation of IRS4.
  

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

The t(X;7)(q22;q34) in paediatric T-cell acute lymphoblastic leukaemia results in overexpression of the insulin receptor substrate 4 gene through illegitimate recombination with the T-cell receptor beta locus.
Karrman K, Kjeldsen E, Lassen C, Isaksson M, Davidsson J, Andersson A, Hasle H, Fioretos T, Johansson B.
Br J Haematol. 2009 Feb;144(4):546-51. Epub 2008 Nov 13.
PMID 19055661
 

Citation

This paper should be referenced as such :
Karrman, K
t(X;7)(q22;q34) IRS4/TCRB
Atlas Genet Cytogenet Oncol Haematol. 2012;16(12):927-928.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0X07q22q34ID1610.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(X;7)(q22;q34) IRS4/TRB

External links

Mitelman databaset(X;7)(q22;q34) [Case List]    t(X;7)(q22;q34) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9837/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaset(X;7)(q22;q34) IRS4/TRB
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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