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Bone: Aneurysmal bone cyst with t(16;17)(q22;p13) CDH11/USP6

Written2011-12Jean-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 6374
Phylum Bones::Aneurysmal bone cyst
t(16;17)(q22;p13) G-banding - Courtesy G. Reza Hafez, Eric B. Johnson, and Sara Morrison-Delap, www.slh.wisc.edu/cytogenetics.

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. About eleven cases to date have been described with a t(16;17)(q22;p13), 7 female patients aged 5, 7, 13, 13, 14, 15, and 17 years, and 4 male patients aged 10, 12, 13, and 30 years (Panoutsakopoulos et al., 1999; Herens et al., 2001; Wyatt-Ashmead et al., 2001; Althof et al., 2004; Oliveira et al., 2004).
Treatment Surgical curetage.
Prognosis Recurrence occurs in one fourth of cases.

Cytogenetics

Cytogenetics
Morphological
In 8 of the 11 cases, the t(16;17)(q22;p13) was the sole anomaly.

Genes involved and Proteins

Gene Name CDH11
Location 16q22
Protein Cell-cell adhesion molecule that mediates adhesion by Ca2+-dependent interactions. Its intracellular domain is anchored to the actin cytoskeleton through alpha and beta-catenin. Role in maintaining tissue architecture and cell polarity, limiting cell movement and proliferation. CDH11 antagonizes Wnt/beta-catenin signaling pathway, induces apoptosis, and regulates epithelial-mesenchymal transition (Li et al., 2011). CDH11 is involved in various cancers. Tumor suppressor function.

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' CDH11 - 3' USP6
Fusion Protein
Description The promotor of CDH11 is juxtaposed to the entire sequence 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
 
Translocation (16;17)(q22;p13) is a recurrent anomaly of aneurysmal bone cysts.
Herens C, Thiry A, Dresse MF, Born J, Flagothier C, Vanstraelen G, Allington N, Bex V.
Cancer Genet Cytogenet. 2001 May;127(1):83-4.
PMID 11408073
 
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
 
The human cadherin 11 is a pro-apoptotic tumor suppressor modulating cell stemness through Wnt/b-catenin signaling and silenced in common carcinomas.
Li L, Ying J, Li H, Zhang Y, Shu X, Fan Y, Tan J, Cao Y, Tsao SW, Srivastava G, Chan AT, Tao Q.
Oncogene. 2011 Dec 5. doi: 10.1038/onc.2011.541. [Epub ahead of print]
PMID 22139084
 
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
 
Recurrent t(16;17)(q22;p13) in aneurysmal bone cysts.
Panoutsakopoulos G, Pandis N, Kyriazoglou I, Gustafson P, Mertens F, Mandahl N.
Genes Chromosomes Cancer. 1999 Nov;26(3):265-6.
PMID 10502326
 
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
 
Primary aneurysmal bone cysts: 16q22 and/or 17p13 chromosome abnormalities.
Wyatt-Ashmead J, Bao L, Eilert RE, Gibbs P, Glancy G, McGavran L.
Pediatr Dev Pathol. 2001 Jul-Aug;4(4):418-9.
PMID 11441369
 

Citation

This paper should be referenced as such :
Huret, JL
Bone: t(16;17)(q22;p13) in aneurysmal bone cyst
Atlas Genet Cytogenet Oncol Haematol. 2012;16(5):372-373.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Tumors/t1617q22p13BoneCystID6374.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(16;17)(q22;p13) CDH11/USP6

External links

Mitelman database t(16;17)(q22;p13) CDH11/USP6 [Case List]    t(16;17)(q22;p13) CDH11/USP6 [Association List] Mitelman database (CGAP - NCBI)
arrayMap Topo ( C40,C41) arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
 
COSMIC_fusionCDH11 (16q21) USP6 (17p13.2)    [fusion1399] [fusion1400] [fusion1401] [fusion1402] [fusion1403] [fusion1404] [fusion1405] [fusion1406] [fusion1408] [fusion1409]
Mitelman databaseCDH11/USP6[MCList]    CDH11 (16q21) USP6 (17p13.2)   
Mitelman databaseCDH11/USP6[MCList]    CDH11 (16q21) USP6 (17p13.2)   t(16;17)(q21;p13)
 
Disease databaseBone: Aneurysmal bone cyst with t(16;17)(q22;p13) CDH11/USP6
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed


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