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

2011-12-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France


Atlas Image
t(16;17)(q22;p13) G-banding - Courtesy G. Reza Hafez, Eric B. Johnson, and Sara Morrison-Delap,

Clinics and Pathology


Benign but locally aggressive tumor.

Phenotype stem cell origin

Occurs mainly in vertebrae and flat bones. Multiple involvement is frequent.


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).


Usually seen in patients aged 10-20 years; represents about 5% of primary bone tumours; slightly more frequent in female patients.


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).


Surgical curetage.


Recurrence occurs in one fourth of cases.


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 (cadherin 11)



Protein description

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 (ubiquitin specific protease 6 (Tre-2 oncogene))



Protein description

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


5 CDH11 - 3 USP6

Highly cited references

Pubmed IDYearTitleCitations
155095452004USP6 and CDH11 oncogenes identify the neoplastic cell in primary aneurysmal bone cysts and are absent in so-called secondary aneurysmal bone cysts.63
150263242004USP6 (Tre2) fusion oncogenes in aneurysmal bone cyst.55
157356892005Aneurysmal bone cyst variant translocations upregulate USP6 transcription by promoter swapping with the ZNF9, COL1A1, TRAP150, and OMD genes.35
271253572016USP6 genetic rearrangements in cellular fibroma of tendon sheath.8
180685382008Fusion of the COL1A1 and USP6 genes in a benign bone tumor.4
328596332020Fusion of the Lumican (LUM) Gene With the Ubiquitin Specific Peptidase 6 (USP6) Gene in an Aneurysmal Bone Cyst Carrying a t(12;17)(q21;p13) Chromosome Translocation.1


Pubmed IDLast YearTitleAuthors
150449152004Cytogenetic and molecular cytogenetic findings in 43 aneurysmal bone cysts: aberrations of 17p mapped to 17p13.2 by fluorescence in situ hybridization.Althof PA et al
114080732001Translocation (16;17)(q22;p13) is a recurrent anomaly of aneurysmal bone cysts.Herens C et al
208645342010TRE17/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 et al
221390842012The human cadherin 11 is a pro-apoptotic tumor suppressor modulating cell stemness through Wnt/β-catenin signaling and silenced in common carcinomas.Li L et al
157356892005Aneurysmal bone cyst variant translocations upregulate USP6 transcription by promoter swapping with the ZNF9, COL1A1, TRAP150, and OMD genes.Oliveira AM et al
105023261999Recurrent t(16;17)(q22;p13) in aneurysmal bone cysts.Panoutsakopoulos G et al
220810692012Atypical mechanism of NF-κB activation by TRE17/ubiquitin-specific protease 6 (USP6) oncogene and its requirement in tumorigenesis.Pringle LM et al
114413692001Primary aneurysmal bone cysts: 16q22 and/or 17p13 chromosome abnormalities.Wyatt-Ashmead J et al

External Links


Jean-Loup Huret

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

Atlas Genet Cytogenet Oncol Haematol. 2011-12-01

Online version:;17)(q22;p13)-cdh11-usp6