Bone: Aneurysmal bone cyst with t(17;17)(p13;q21) COL1A1/USP6
2011-12-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Clinics and Pathology
Note
Benign but locally aggressive tumor.
Phenotype stem cell 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.
Cytogenetics
Cytogenetics morphological
The t(17;17)(p13;q21) was the sole anomaly.
Genes Involved and Proteins
Gene name
COL1A1 (collagen, type I, alpha 1)
Location
17q21.33
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))
Location
17p13.2
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
Description
5 COL1A1 - 3 USP6
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.
Highly cited references
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36727055 | 2022 | USP6-associated soft tissue tumors with bone metaplasia: Clinicopathologic and genetic analysis and the identification of novel USP6 fusion partners. | 49 |
| 32157177 | 2020 | Myositis ossificans-like soft tissue aneurysmal bone cyst: a clinical, radiological, and pathological study of seven cases with COL1A1-USP6 fusion and a novel ANGPTL2-USP6 fusion. | 45 |
| 18068538 | 2008 | Fusion of the COL1A1 and USP6 genes in a benign bone tumor. | 0 |
| 33000481 | 2021 | Clinicopathological and molecular characterisation of USP6-rearranged soft tissue neoplasms: the evidence of genetic relatedness indicates an expanding family with variable bone-forming capacity. | 0 |
| 33404853 | 2021 | Intraarticular nodular fasciitis-detection of USP6 gene fusions in three cases by targeted RNA sequencing. | 0 |
| 30946936 | 2019 | Fibro-osseous pseudotumor of digits and myositis ossificans show consistent COL1A1-USP6 rearrangement: a clinicopathological and genetic study of 27 cases. | 0 |
| 38741286 | 2024 | Myositis ossificans mimicking bone surface osteosarcoma: case report with literature review. | 0 |
| 32583473 | 2020 | Benign infiltrative myofibroblastic neoplasms of childhood with USP6 gene rearrangement. | 0 |
| 37071060 | 2023 | Spectrum of kinase gene rearrangements in a large series of paediatric inflammatory myofibroblastic tumours. | 0 |
| 30603771 | 2019 | Soft tissue aneurysmal bone cyst: six new cases with imaging details, molecular pathology, and review of the literature. | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 20864534 | 2010 | 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 et al |
| 15735689 | 2005 | Aneurysmal bone cyst variant translocations upregulate USP6 transcription by promoter swapping with the ZNF9, COL1A1, TRAP150, and OMD genes. | Oliveira AM et al |
| 18068538 | 2008 | Fusion of the COL1A1 and USP6 genes in a benign bone tumor. | Panagopoulos I et al |
| 22081069 | 2012 | Atypical mechanism of NF-κB activation by TRE17/ubiquitin-specific protease 6 (USP6) oncogene and its requirement in tumorigenesis. | Pringle LM et al |
| 20724381 | 2011 | Comparative vertebrate evolutionary analyses of type I collagen: potential of COL1a1 gene structure and intron variation for common bone-related diseases. | Stover DA et al |
Citation
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: http://atlasgeneticsoncology.org/solid-tumor/5449/bone-aneurysmal-bone-cyst-with-t(17;17)(p13;q21)-col1a1-usp6
