* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
Download Solid Tumour Section Bone: t(3;17)(q21;p13) in aneurysmal bone cyst
Survey
Document related concepts
History of genetic engineering wikipedia , lookup
Designer baby wikipedia , lookup
Protein moonlighting wikipedia , lookup
Microevolution wikipedia , lookup
Gene expression profiling wikipedia , lookup
Vectors in gene therapy wikipedia , lookup
Epigenetics of neurodegenerative diseases wikipedia , lookup
Epigenetics of human development wikipedia , lookup
Artificial gene synthesis wikipedia , lookup
Point mutation wikipedia , lookup
Therapeutic gene modulation wikipedia , lookup
Transcript
Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Solid Tumour Section Short Communication Bone: t(3;17)(q21;p13) in aneurysmal bone cyst Jean-Loup Huret Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France (JLH) Published in Atlas Database: November 2011 Online updated version : http://AtlasGeneticsOncology.org/Tumors/t0317q21p13BoneCystID5671.html DOI: 10.4267/2042/47307 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2012 Atlas of Genetics and Cytogenetics in Oncology and Haematology Clinics and pathology Genes involved and proteins Disease CNBP Aneurysmal bone cysts Note Benign but locally aggressive tumor. Location 3q21 Protein CNBP, also called ZNF9, is made of 7 CCHC-type Zn fingers. Nucleic acid binding protein; binds single stranded DNA and RNA; act as a regulator of transcription and translation of many genes, including MYC. CNBP may regulate gene expression by catalyzing the formation of G4s (G-quadruplexes, formed by intramolecular four-stranded DNA structures). Germinal mutations Myotonic dystrophy DM2 is caused by expansion of a (CCTG)(n) in CNBP. CNBP has also been implicated in sporadic inclusion body myositis (review in Calcaterra et al., 2010). 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. USP6 Clinics Location 17p13 Protein USP6, also called TRE17/ubiquitin-specific protease 6 (USP6), is a deubiquitinase. It is the first de-ubiquitinating enzyme to activate NFKB, and requires both catalytic subunits of IKK (IKKalpha and IKKbeta) (Pringle et al., 2011). Forms a spongy hemorrhagic mass; symptoms are pain, swelling, pathological fractures. One case to date was found with a t(3;17)(q21;p13), a 7-year-old girl with a tumor located in the tibia (Oliveira et al., 2005). Treatment Surgical curetage. Prognosis Cytogenetics Result of the chromosomal anomaly Cytogenetics Morphological Hybrid Gene The t(3;17)(q21;p13) was the sole anomaly. Description 5' CNBP - 3' USP6 Recurrence occurs in one fourth of cases. Atlas Genet Cytogenet Oncol Haematol. 2012; 16(4) 297 Bone: t(3;17)(q21;p13) in aneurysmal bone cyst Huret JL Calcaterra NB, Armas P, Weiner AM, Borgognone M. CNBP: a multifunctional nucleic acid chaperone involved in cell death and proliferation control. IUBMB Life. 2010 Oct;62(10):707-14 Fusion Protein Description Fusion of the noncoding exon 1 of CNBP to USP exon 2 (i.e. to the entire coding sequence of USP6, resulting in upregulation of USP6). Lau AW, Pringle LM, Quick L, Riquelme DN, Ye Y, Oliveira AM, Chou MM. TRE17/ubiquitin-specific protease 6 (USP6) oncogene translocated in aneurysmal bone cyst blocks osteoblastic maturation via an autocrine mechanism involving bone morphogenetic protein dysregulation. J Biol Chem. 2010 Nov 19;285(47):37111-20 References Oliveira AM, Perez-Atayde AR, Dal Cin P, Gebhardt MC, Chen CJ, Neff JR, Demetri GD, Rosenberg AE, Bridge JA, Fletcher JA. Aneurysmal bone cyst variant translocations upregulate USP6 transcription by promoter swapping with the ZNF9, COL1A1, TRAP150, and OMD genes. Oncogene. 2005 May 12;24(21):3419-26 Pringle LM, Young R, Quick L, Riquelme DN, Oliveira AM, May MJ, Chou MM. Atypical mechanism of NF-κB activation by TRE17/ubiquitin-specific protease 6 (USP6) oncogene and its requirement in tumorigenesis. Oncogene. 2011 Nov 14; This article should be referenced as such: Huret JL. Bone: t(3;17)(q21;p13) in aneurysmal bone cyst. Atlas Genet Cytogenet Oncol Haematol. 2012; 16(4):297-298. Atlas Genet Cytogenet Oncol Haematol. 2012; 16(4) 298