Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone

Nature Genetics

Volumn 45, Issue 12, 2013, Pages 1479-1482

  Behjati, Sam ^a,b   Tarpey, Patrick S ^a   Presneau, Nadège ^c   Scheipl, Susanne ^c,d   Pillay, Nischalan ^c,e   Van Loo, Peter ^a,f   Wedge, David C ^a   Cooke, Susanna L ^a   Gundem, Gunes ^a   Davies, Helen ^a   Nik Zainal, Serena ^a   Martin, Sancha ^a   McLaren, Stuart ^a   Goodie, Victoria ^a   Robinson, Ben ^a   Butler, Adam ^a   Teague, Jon W ^a   Halai, Dina ^e   Khatri, Bhavisha ^e   Myklebost, Ola ^g   Baumhoer, Daniel ^h   Jundt, Gernot ^h   Hamoudi, Rifat ^c   Tirabosco, Roberto ^e   Amary, M Fernanda ^e   Futreal, P Andrew ^a   Stratton, Michael R ^a   Campbell, Peter J ^a,b,i   Flanagan, Adrienne M ^c,e   more..

^a WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d MEDICAL UNIVERSITY OF GRAZ   (Austria)

^e ROYAL NATIONAL ORTHOPAEDIC HOSPITAL   (United Kingdom)

^f UNIVERSITY OF LEUVEN   (Belgium)

^g OSLO UNIVERSITY HOSPITAL   (Norway)

^h UNIVERSITY HOSPITAL BASEL   (Switzerland)

ⁱ ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

HISTONE H3; HISTONE H3 3; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CARTILAGE TUMOR; CELL POPULATION; CHONDROBLASTOMA; CHONDROMA; CHONDROSARCOMA; CHORDOMA; GENE MUTATION; GENETIC ASSOCIATION; H3F3A GENE; H3F3B GENE; HUMAN; OSTEOCLAST; OSTEOCLASTOMA; OSTEOSARCOMA; PRIORITY JOURNAL; SOMATIC MUTATION; TUMOR GENE;

AMINO ACID SEQUENCE; BONE NEOPLASMS; CASE-CONTROL STUDIES; CELLS, CULTURED; CHILD; CHONDROBLASTOMA; GENE FREQUENCY; GIANT CELL TUMOR OF BONE; HISTONES; HUMANS; MUTATION;

EID: 84888353557     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2814     Document Type: Article

References (27)

1. Fletcher, C. D. M. et al. Pathology and Genetics of Tumours of Soft Tissue and Bone 427 (IARC Press, Lyon, France, 2013).
2. Albig, W. et al. The human replacement histone H3. 3B gene (H3F3B). Genomics 30, 264-272 (1995).
3. Szenker, E., Ray-Gallet, D. & Almouzni, G. The double face of the histone variant H33. Cell Res. 21, 421-434 (2011).
4. Gessi, M. et al. H3. 3 G34R mutations in pediatric primitive neuroectodermal tumors of central nervous system (CNS-PNET) and pediatric glioblastomas: possible diagnostic and therapeutic implications? J. Neurooncol. 112, 67-72 (2013).
5. Gielen, G. H. et al. H3F3A K27M mutation in pediatric CNS tumors: a marker for diffuse high-grade astrocytomas. Am. J. Clin. Pathol. 139, 345-349 (2013).
6. Khuong-Quang, D. A. et al. K27M mutation in histone H3. 3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas. Acta Neuropathol. 124, 439-447 (2012).
7. Schwartzentruber, J. et al. Driver mutations in histone H3. 3 and chromatin remodelling genes in paediatric glioblastoma. Nature 482, 226-231 (2012).
8. Wu, G. et al. Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas. Nat. Genet. 44, 251-253 (2012).
9. Zhang, J. et al. Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas. Nat. Genet. 45, 602-612 (2013).
10. Wülling, M. et al. The nature of giant cell tumor of bone. J. Cancer Res. Clin. Oncol. 127, 467-474 (2001). (Pubitemid 32662503)
11. Bamford, S. et al. The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website. Br. J. Cancer 91, 355-358 (2004). (Pubitemid 39037083)
12. Fernández-Medarde, A. & Santos, E. Ras in cancer and developmental diseases. Genes Cancer 2, 344-358 (2011).
13. Lasky, T. & Silbergeld, E. P53 mutations associated with breast, colorectal, liver, lung, and ovarian cancers. Environ. Health Perspect. 104, 1324-1331 (1996). (Pubitemid 27065084)
14. Frank, D., Doenecke, D. & Albig, W. Differential expression of human replacement and cell cycle dependent H3 histone genes. Gene 312, 135-143 (2003). (Pubitemid 37338118)
15. López-Fernández, L. A., Lopez-Alanon, D. M., Castaneda, V., Krimer, D. B. & del Mazo, J. Developmental expression of H3. 3A variant histone mRNA in mouse. Int. J. Dev. Biol. 41, 699-703 (1997). (Pubitemid 27475613)
16. Lewis, P. W. et al. Inhibition of PRC2 activity by a gain-of-function H3 H3 mutation found in pediatric glioblastoma. Science 340, 857-861 (2013).
17. Chan, K. M. et al. The histone H3. 3 K27M mutation in pediatric glioma reprograms H3K27 methylation and gene expression. Genes Dev. 27, 985-990 (2013).
18. Bjerke, L. et al. Histone H3. 3 mutations drive pediatric glioblastoma through upregulation of MYCN. Cancer Discov. 3, 512-519 (2013).
19. Li, H. & Durbin, R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics 26, 589-595 (2010).
20. Tarpey, P. S. et al. Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma. Nat. Genet. 45, 923-926 (2013).
21. Ye, K., Schulz, M. H., Long, Q., Apweiler, R. & Ning, Z. Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Bioinformatics 25, 2865-2871 (2009).
22. Nik-Zainal, S. et al. Mutational processes molding the genomes of 21 breast cancers. Cell 149, 979-993 (2012).
23. Van Loo, P. et al. Allele-specific copy number analysis of tumors. Proc. Natl. Acad. Sci. USA 107, 16910-16915 (2010).
24. Stephens, P. J. et al. The landscape of cancer genes and mutational processes in breast cancer. Nature 486, 400-404 (2012).
25. Taylor, R. M. et al. CD14? mononuclear stromal cells support (CD14+) monocyte-osteoclast differentiation in aneurysmal bone cyst. Lab. Invest. 92, 600-605 (2012).
26. Horton, M. A., Lewis, D., McNulty, K., Pringle, J. A. & Chambers, T. J. Monoclonal antibodies to osteoclastomas (giant cell bone tumors): definition of osteoclast-specific cellular antigens. Cancer Res. 45, 5663-5669 (1985). (Pubitemid 16218570)
27. Horton, M. A., Taylor, M. L., Arnett, T. R. & Helfrich, M. H. Arg-Gly-Asp (RGD) peptides and the anti-vitronectin receptor antibody 23C6 inhibit dentine resorption and cell spreading by osteoclasts. Exp. Cell Res. 195, 368-375 (1991). (Pubitemid 121006336)