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Bone: Aneurysmal bone cyst with t(3;17)(q21;p13) CNBP/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 5671
Phylum Bone t(3;17)(q21;p13) in 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(3;17)(q21;p13), a 7-year-old girl with a tumor located in the tibia (Oliveira et al., 2005).
Treatment Surgical curetage.
Prognosis Recurrence occurs in one fourth of cases.

Cytogenetics

Cytogenetics
Morphological
The t(3;17)(q21;p13) was the sole anomaly.

Genes involved and Proteins

Gene Name CNBP
Location 3q21
Protein CNBP, also called ZNF9, is made of 7 CCHC-type Zn fingers. Nucleic acid binding protein; binds single stranded DNA and RNA; act as a regulator of transcription and translation of many genes, including MYC. CNBP may regulate gene expression by catalyzing the formation of G4s (G-quadruplexes, formed by intramolecular four-stranded DNA structures).
Germinal mutation Myotonic dystrophy DM2 is caused by expansion of a (CCTG)(n) in CNBP. CNBP has also been implicated in sporadic inclusion body myositis (review in Calcaterra et al., 2010).

Gene Name USP6
Location 17p13
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' CNBP - 3' USP6
Fusion Protein
Description Fusion of the noncoding exon 1 of CNBP to USP exon 2 (i.e. to the entire coding sequence of USP6, resulting in upregulation of USP6).
  

Bibliography

CNBP: a multifunctional nucleic acid chaperone involved in cell death and proliferation control.
Calcaterra NB, Armas P, Weiner AM, Borgognone M.
IUBMB Life. 2010 Oct;62(10):707-14.
PMID 20960530
 
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
 
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(3;17)(q21;p13) in aneurysmal bone cyst
Atlas Genet Cytogenet Oncol Haematol. 2012;16(4):297-298.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Tumors/t0317q21p13BoneCystID5671.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(3;17)(q21;p13) CNBP/USP6

External links

Mitelman database t(3;17)(q21;p13) CNBP/USP6 [Case List]    t(3;17)(q21;p13) CNBP/USP6 [Association List] Mitelman database (CGAP - NCBI)
arrayMap Topo ( C40,C41) arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
 
COSMIC_fusionCNBP (3q21.3) USP6 (17p13.2)    [fusion1416] [fusion1417] [fusion1418]
Mitelman databaseCNBP/USP6[MCList]    CNBP (3q21.3) USP6 (17p13.2)   t(3;7)(q21;p13)
TICdbCNBP/USP6    CNBP (3q21.3) USP6 (17p13.2)
 
Disease databaseBone: Aneurysmal bone cyst with t(3;17)(q21;p13) CNBP/USP6
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed


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indexed on : Wed Apr 12 11:24:09 CEST 2017


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