THRAP3 (thyroid hormone receptor associated protein 3), USP6 (ubiquitin specific protease 6 (Tre-2 oncogene)), ">

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Bone: Aneurysmal bone cyst with t(1;17)(p34;p13) THRAP3/USP6

Written2011-11Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C400-C403,C408-C414,C418-C419 BONES & JOINTS
Atlas_Id 5446
Phylum Bones::Aneurysmal bone cyst

Clinics and Pathology

Disease Aneurysmal bone cysts
Note Benign but locally aggressive tumor.
Phenotype / cell stem origin Occurs mainly in vertebrae and flat bones. Multiple involvement is frequent.
Etiology May involve the arrest of maturation of the osteoblasts caused by USP6 overexpression and dysregulation of autocrine BMP (bone morphology protein) signaling (Lau et al., 2010).
Epidemiology Usually seen in patients aged 10-20 years; represents about 5% of primary bone tumours; slightly more frequent in female patients.
Clinics Forms a spongy hemorrhagic mass; symptoms are pain, swelling, pathological fractures. One case to date was found with a t(1;17)(p34;p13), a 7-year-old boy with a tumor located in the tibia (Althof et al., 2004; Oliveira et al., 2005).
Treatment Surgical curetage.
Prognosis Recurrence occurs in one fourth of cases.

Cytogenetics

Cytogenetics
Morphological
The t(1;17)(p34;p13) was the sole anomaly.

Genes involved and Proteins

Gene NameTHRAP3 (thyroid hormone receptor associated protein 3)
Location 1p34.3
Protein THRAP3, also called TRAP150, is made of an arginine/serine-rich sequence in the N-terminal region and domains with similarity with BCLAF1 and with CASC3/MLN51 in the C-terminal region. It is part of the transcription regulatory complex TRAP/Mediator, and a component of the spliceosome. It both activates pre-mRNA splicing and induces mRNA degradation. The arginine/serine-rich N-term of THRAP3 is responsible for its splicing activity, and the C-term part for its mRNA degradation activity (Lee et al., 2010).

Gene NameUSP6 (ubiquitin specific protease 6 (Tre-2 oncogene))
Location 17p13.2
Protein USP6, also called TRE17/ubiquitin-specific protease 6 (USP6), is a deubiquitinase. It is the first de-ubiquitinating enzyme to activate NF-KB, and requires both catalytic subunits of IKK (IKKalpha and IKKbeta) (Pringle et al., 2011).

Result of the chromosomal anomaly

Hybrid Gene
Description 5' THRAP3 - 3' USP6
Fusion Protein
Description Fusion of the noncoding exon 1 of THRAP3 to a splicing variant of USP exon 1 (i.e. to the entire coding sequence of USP6, resulting in upregulation of USP6).
  

Bibliography

Cytogenetic and molecular cytogenetic findings in 43 aneurysmal bone cysts: aberrations of 17p mapped to 17p13.2 by fluorescence in situ hybridization.
Althof PA, Ohmori K, Zhou M, Bailey JM, Bridge RS, Nelson M, Neff JR, Bridge JA.
Mod Pathol. 2004 May;17(5):518-25.
PMID 15044915
 
TRE17/ubiquitin-specific protease 6 (USP6) oncogene translocated in aneurysmal bone cyst blocks osteoblastic maturation via an autocrine mechanism involving bone morphogenetic protein dysregulation.
Lau AW, Pringle LM, Quick L, Riquelme DN, Ye Y, Oliveira AM, Chou MM.
J Biol Chem. 2010 Nov 19;285(47):37111-20. Epub 2010 Sep 23.
PMID 20864534
 
TRAP150 activates pre-mRNA splicing and promotes nuclear mRNA degradation.
Lee KM, Hsu IaW, Tarn WY.
Nucleic Acids Res. 2010 Jun;38(10):3340-50. Epub 2010 Jan 31.
PMID 20123736
 
Aneurysmal bone cyst variant translocations upregulate USP6 transcription by promoter swapping with the ZNF9, COL1A1, TRAP150, and OMD genes.
Oliveira AM, Perez-Atayde AR, Dal Cin P, Gebhardt MC, Chen CJ, Neff JR, Demetri GD, Rosenberg AE, Bridge JA, Fletcher JA.
Oncogene. 2005 May 12;24(21):3419-26.
PMID 15735689
 
Atypical mechanism of NF-kB activation by TRE17/ubiquitin-specific protease 6 (USP6) oncogene and its requirement in tumorigenesis.
Pringle LM, Young R, Quick L, Riquelme DN, Oliveira AM, May MJ, Chou MM.
Oncogene. 2011 Nov 14. doi: 10.1038/onc.2011.520. [Epub ahead of print]
PMID 22081069
 

Citation

This paper should be referenced as such :
Huret, JL
Bone: t(1;17)(p34;p13) in aneurysmal bone cyst
Atlas Genet Cytogenet Oncol Haematol. 2012;16(4):295-296.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Tumors/t0117p34p13BoneCystID5446.html


Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes THRAP3

Translocations implicated (Data extracted from papers in the Atlas)

 t(1;17)(p34;p13) THRAP3/USP6

External links

Mitelman database t(1;17)(p34;p13) THRAP3/USP6 [Case List]    t(1;17)(p34;p13) THRAP3/USP6 [Association List] Mitelman database (CGAP - NCBI)
arrayMap Topo ( C40,C41) arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
 
COSMIC_fusionTHRAP3 (1p34.3) USP6 (17p13.2)    [fusion1410] [fusion1411]
Mitelman databaseTHRAP3/USP6[MCList]    THRAP3 (1p34.3) USP6 (17p13.2)   t(1;17)(p34;p13)
TICdbTHRAP3/USP6    THRAP3 (1p34.3) USP6 (17p13.2)
 
Disease databaseBone: Aneurysmal bone cyst with t(1;17)(p34;p13) THRAP3/USP6
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed


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