Bone: Aneurysmal bone cyst with t(17;17)(p13;q21) COL1A1/USP6

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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)

1. Identity

ICD-Topo C400-C403,C408-C414,C418-C419 BONES & JOINTS
Atlas_Id 5449
Phylum Bones::Aneurysmal bone cyst
WHO/OMS Classification Bones

2. 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. Two cases to date was found with a t(17;17)(p13;q21), a 8-year-old boy with a tumor of the soft tissues, and a 13-year-old boy with a tumor located in the tibia (Oliveira et al., 2005; Panagopoulos et al., 2008).
Treatment Surgical curetage.
Prognosis Recurrence occurs in one fourth of cases.

3. Cytogenetics

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

4. Genes involved and Proteins

Gene NameCOL1A1 (collagen, type I, alpha 1)
Location 17q21.33
Protein Two pro a1(I) chain associate in trimers with one pro a2(I) chain to form the type I collagen fibrils after proteolysis. Constituent of the extra cellular matrix in connective tissue of bone, skin, tendon, ligament, teeth.
Germinal mutation COL1A1 has been found mutated in osteoporosis, osteogenesis imperfecta types I-IV, Ehlers-Danlos types I and VIIA, and Caffey disease (Stover and Verrelli, 2011).

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).

5. Result of the chromosomal anomaly

Hybrid Gene
Description 5' COL1A1 - 3' USP6
Fusion Protein
Description Fusion of the exon 1 of COL1A1 to a splicing variant of USP exon 1 in the case reported in Oliveira et al., 2005.

6. 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
Fusion of the COL1A1 and USP6 genes in a benign bone tumor.
Panagopoulos I, Mertens F, Lofvenberg R, Mandahl N.
Cancer Genet Cytogenet. 2008 Jan 1;180(1):70-3.
PMID 18068538
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
Comparative vertebrate evolutionary analyses of type I collagen: potential of COL1a1 gene structure and intron variation for common bone-related diseases.
Stover DA, Verrelli BC.
Mol Biol Evol. 2011 Jan;28(1):533-42. Epub 2010 Aug 19.
PMID 20724381

7. Citation

This paper should be referenced as such :
Huret, JL
Bone: t(17;17)(p13;q21) in aneurysmal bone cyst
Atlas Genet Cytogenet Oncol Haematol. 2012;16(5):374-375.
Free journal version : [ pdf ]   [ DOI ]
On line version :

8. Translocations implicated (Data extracted from papers in the Atlas)

 t(17;17)(p13;q21) COL1A1/USP6

9. External links

Mitelman database t(17;17)(p13;q21) [CaseList]     t(17;17)(p13;q21) [Transloc - MCList]   COL1A1/USP6 Fusion - MCList]
COSMIC[ COL1A1 ]   [ USP6 ]
arrayMap Topo ( C40,C41) arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
COSMIC_fusionCOL1A1 (17q21.33) USP6 (17p13.2)    [fusion1397] [fusion1398] [fusion1414] [fusion1415]
Mitelman databaseCOL1A1/USP6[MCList]    COL1A1 (17q21.33) USP6 (17p13.2)   t(17;17)(p13;q21)
TICdbCOL1A1/USP6    COL1A1 (17q21.33) USP6 (17p13.2)
Disease databaseBone: Aneurysmal bone cyst with t(17;17)(p13;q21) COL1A1/USP6
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed

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indexed on : Wed Nov 28 16:26:34 CET 2018

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