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

2011-12-01   Jean-Loup Huret 

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

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. 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).


Surgical curetage.


Recurrence occurs in one fourth of cases.


Cytogenetics morphological

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

Genes Involved and Proteins

Gene name

COL1A1 (collagen, type I, alpha 1)



Protein description

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 mutations

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 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 COL1A1 - 3 USP6


Pubmed IDLast YearTitleAuthors
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
157356892005Aneurysmal bone cyst variant translocations upregulate USP6 transcription by promoter swapping with the ZNF9, COL1A1, TRAP150, and OMD genes.Oliveira AM et al
180685382008Fusion of the COL1A1 and USP6 genes in a benign bone tumor.Panagopoulos I 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
207243812011Comparative vertebrate evolutionary analyses of type I collagen: potential of COL1a1 gene structure and intron variation for common bone-related diseases.Stover DA et al

External Links


Jean-Loup Huret

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

Atlas Genet Cytogenet Oncol Haematol. 2011-12-01

Online version:;17)(p13;q21)-col1a1-usp6