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Bone: Aneurysmal bone cyst with t(9;17)(q22;p13) OMD/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 5448
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(9;17)(q22;p13), a 10-year-old boy with a tumor located in the clavicle (Oliveira et al., 2005). However, a malignant fibrous histiocytoma has also been described with a t(9;17)(q22;p13), as part of a complex karyotype (Sozzi et al., 1997).
Treatment Surgical curetage.
Prognosis Recurrence occurs in one fourth of cases.

Cytogenetics

Cytogenetics
Morphological
The t(9;17)(q22;p13) was the sole anomaly.

Genes involved and Proteins

Gene Name OMD
Location 9q22
Protein OMD (osteomodulin), also called OSAD (osteoadherin), is a member of the small leucine rich-repeat proteoglycan (SLRP) family. It is an extracellular matrix keratan sulfate proteoglycan restricted to mineralized tissues. OMD is a marker for terminally differentiated matrix producing osteoblasts. OMD expression enhances the differentiation and maturation of osteoblasts. It is induced by osteoclast activity (Rehn et al., 2008).

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' OMD - 3' USP6
Fusion Protein
Description Fusion of the noncoding exon 1 of OMD to a splicing variant of USP exon 1, resulting in upregulation of USP6.
  

Bibliography

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
 
Osteoadherin is upregulated by mature osteoblasts and enhances their in vitro differentiation and mineralization.
Rehn AP, Cerny R, Sugars RV, Kaukua N, Wendel M.
Calcif Tissue Int. 2008 Jun;82(6):454-64.
PMID 18496725
 
Relevance of cytogenetic and fluorescent in situ hybridization analyses in the clinical assessment of soft tissue sarcoma.
Sozzi G, Minoletti F, Miozzo M, Sard L, Musso K, Azzarelli A, Pierotti MA, Pilotti S.
Hum Pathol. 1997 Feb;28(2):134-42.
PMID 9023392
 

Citation

This paper should be referenced as such :
Huret, JL
Bone: t(9;17)(q22;p13) in aneurysmal bone cyst
Atlas Genet Cytogenet Oncol Haematol. 2012;16(4):299-300.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Tumors/t0917q22p13BoneCystID5448.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(9;17)(q22;p13) OMD/USP6

External links

Mitelman database t(9;17)(q22;p13) OMD/USP6 [Case List]    t(9;17)(q22;p13) OMD/USP6 [Association List] Mitelman database (CGAP - NCBI)
arrayMap Topo ( C40,C41) arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
 
COSMIC_fusionOMD (9q22.31) USP6 (17p13.2)    [fusion1412] [fusion1413]
Mitelman databaseOMD/USP6[MCList]    OMD (9q22.31) USP6 (17p13.2)   
Mitelman databaseOMD/USP6[MCList]    OMD (9q22.31) USP6 (17p13.2)   t(9;17)(q22;p13)
 
Disease databaseBone: Aneurysmal bone cyst with t(9;17)(q22;p13) OMD/USP6
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed


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