Secondary peripheral chondrosarcoma evolving from osteochondroma as a result of outgrowth of cells with functional EXT

Oncogene

Volumn 31, Issue 9, 2012, Pages 1095-1104

  De Andrea, C E ^a   Reijnders, C M A ^a   Kroon, H M ^a   De Jong, D ^a   Hogendoorn, P C W ^a   Szuhai, K ^a   Bovee J V M G ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

array CGH; bone tumors; chondrosarcoma; EXT1; FISH; osteochondroma

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CARCINOGENESIS; CHILD; CHONDROSARCOMA; EXT 1 GENE; EXT 2 GENE; GENE; GENE DELETION; GENE INACTIVATION; HUMAN; HUMAN TISSUE; MALE; OSTEOCHONDROMA; PRIORITY JOURNAL; SCHOOL CHILD; SECONDARY PERIPHERAL CHONDROSARCOMA;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BONE NEOPLASMS; CHILD; CHONDROSARCOMA; CHROMOSOMES, HUMAN, PAIR 8; COMPARATIVE GENOMIC HYBRIDIZATION; GENE DELETION; HOMOZYGOTE; HUMANS; MIDDLE AGED; N-ACETYLGLUCOSAMINYLTRANSFERASES; NEOPLASMS, SECOND PRIMARY; OSTEOCHONDROMA; YOUNG ADULT;

EID: 84857789522     PISSN: 09509232     EISSN: 14765594     Source Type: Journal    
DOI: 10.1038/onc.2011.311     Document Type: Article

References (32)

1. Bernard SA, Murphey MD, Flemming DJ, Kransdorf MJ. (2010). Improved differentiation of benign osteochondromas from secondary chondrosarcomas with standardized measurement of cartilage cap at CT and MR imaging. Radiology 255: 857-865.
2. Bertoni F, Bacchini P, Hogendoorn PCW. (2002). Chondrosarcoma. In: Fletcher CDM, Unni KK, Mertens F (eds). World Health Organization Classification of Tumours. Pathology and Genetics of Tumours of Soft Tissue and Bone. IARC Press: France. pp 247-251.
3. Bovée JVMG, Cleton-Jansen AM, Kuipers-Dijkshoorn N, Van den Broek LJCM, Taminiau AHM, Cornelisse CJ et al. (1999). Loss of heterozygosity and DNA ploidy point to a diverging genetic mechanism in the origin of peripheral and central chondrosarcoma. Genes Chromosomes Cancer 26: 237-246.
4. Bovee JVMG, Hogendoorn PCW, Wunder JS, Alman BA. (2010). Cartilage tumours and bone development: molecular pathology and possible therapeutic targets. Nat Rev Cancer 10: 481-488.
5. Bovée JVMG, van Royen M, Bardoel AFJ, Rosenberg C, Cornelisse CJ, Cleton-Jansen AM et al. (2000). Near-haploidy and subsequent polyploidization characterize the progression of peripheral chondrosarcoma. Am J Pathol 157: 1587-1595.
6. Bulow HE, Hobert O. (2006). The molecular diversity of glycosaminoglycans shapes animal development. Annu Rev Cell Dev Biol 22: 375-407.
7. Clément A, Wiweger M, von der Hardt S, Rusch MA, Selleck SB, Chien CB et al. (2008). Regulation of zebrafish skeletogenesis by ext2/dackel and papst1/pinscher. PLoS Genet 4: e1000136.
8. de Andrea CE, Prins FA, Wiweger MI, Hogendoorn PCW. (2011). Growth plate regulation and osteochondroma formation: insights from tracing proteoglycans in zebrafish models and human cartilage. J Pathol 224: 160-168.
9. de Andrea CE, Wiweger MI, Prins FA, Bovee JVMG, Romeo S, Hogendoorn PC. (2010). Primary cilia organization reflects polarity in the growth plate and implies loss of polarity and mosaicism in osteochondroma. Lab Invest 90: 1091-1101.
10. Dorfman HD, Czerniak B, Kotz R, Vanel D, Park YK, Unni KK. (2002). WHO classification of tumours of bone: Introduction. In: Fletcher CDM, Unni KK, Mertens F (eds). World Health Organization Classification of Tumours. Pathology and Genetics of Tumours of Soft Tissue and Bone. IARC Press: France. pp 226-232.
11. Evans HL, Ayala AG, Romsdahl MM. (1977). Prognostic factors in chondrosarcoma of bone. A clinicopathologic analysis with emphasis on histologic grading. Cancer 40: 818-831.
12. Hallor KH, Staaf J, Bovée JVMG, Hogendoorn PCW, Cleton-Jansen AM, Knuutila S et al. (2009). Genomic profiling of chondrosarcoma: chromosomal patterns in central and peripheral tumors. Clin Cancer Res 15: 2685-2694.
13. Hameetman L, David G, Yavas A, White SJ, Taminiau AHM, Cleton-Jansen AM et al. (2007a). Decreased EXT expression and intracellular accumulation of heparan sulphate proteoglycan in osteochondromas and peripheral chondrosarcomas. J Pathol 211: 399-409.
14. Hameetman L, Szuhai K, Yavas A, Knijnenburg J, van Duin M, Van Dekken H et al. (2007b). The role of EXT1 in non hereditary osteochondroma: identification of homozygous deletions. J Natl Cancer Inst 99: 396-406.
15. Hecht JT, Hogue D, Strong LC, Hansen MF, Blanton SH, Wagner M. (1995). Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome 11 and loss of heterozygosity for EXT-linked markers on chromosomes 11 and 8. Am J Hum Genet 56: 1125-1131.
16. Jones KB, Piombo V, Searby C, Kurriger G, Yang B, Grabellus F et al. (2010). A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes. Proc Natl Acad Sci USA 107: 2054-2059.
17. Khurana J, Abdul-Karim F, Bovée JVMG. (2002). Osteochondroma. In: Fletcher CDM, Unni KK, Mertens F (eds). World Health Organization Classification of Tumours. Pathology and Genetics of Tumours of Soft Tissue and Bone. IARC Press: France. pp 234-236.
18. Matsumoto K, Irie F, Mackem S, Yamaguchi Y. (2010). A mouse model of chondrocyte-specific somatic mutation reveals a role for Ext1 loss of heterozygosity in multiple hereditary exostoses. Proc Natl Acad Sci USA 107: 10932-10937.
19. McCormick C, Leduc Y, Martindale D, Mattison K, Esford LE, Dyer AP et al. (1998). The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate. Nat Genet 19: 158-161.
20. Mohseny AB, Tieken C, Van der Velden PA, Szuhai K, de Andrea C, Hogendoorn PCW et al. (2010). Small deletions but not methylation underlie CDKN2A/p16 loss of expression in conventional osteosarcoma. Genes Chromosomes Cancer 49: 1095-1103.
21. Pansuriya TC, Oosting J, Krenacs T, Taminiau AH, Verdegaal SH, Sangiorgi L et al. (2011). Genome-wide analysis of Ollier disease: is it all in the genes? Orphanet J Rare Dis 6: 2.
22. Raaijmakers M. (2011). Niche contributions to oncogenesis: emerging concepts and implications for the hematopoietic system. Haematologica 96: 1041-1048.
23. Raaijmakers MH, Mukherjee S, Guo S, Zhang S, Kobayashi T, Schoonmaker JA et al. (2010). Bone progenitor dysfunction induces myelodysplasia and secondary leukaemia. Nature 464: 852-857.
24. Raskind WH, Conrad EU, Chansky H, Matsushita M. (1995). Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11. Am J Hum Genet 56: 1132-1139.
25. Reijmers RM, Groen RW, Rozemuller H, Kuil A, de Haan-Kramer A, Csikos T et al. (2010). Targeting EXT1 reveals a crucial role for heparan sulfate in the growth of multiple myeloma. Blood 115: 601-604.
26. Reijnders CM, Waaijer CJ, Hamilton A, Buddingh EP, Dijkstra SP, Ham J et al. (2010). No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas. Am J Pathol 177: 1946-1957.
27. Szuhai K, Ijszenga M, de Jong D, Karseladze A, Tanke HJ, Hogendoorn PCW. (2009). The NFATc2 gene is involved in a novel cloned translocation in a Ewing sarcoma variant that couples its function in immunology to oncology. Clin Cancer Res 15: 2259-2268.
28. Szuhai K, Jennes I, De Jong D, Bovée JVMG, Wiweger M, Wuyts W et al. (2011). Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients. Hum Mutat 32: 2036-2049.
29. van den Berg H, Kroon HM, Slaar A, Hogendoorn P. (2008). Incidence of biopsy-proven bone tumors in children: a report based on the Dutch pathology registration "PALGA". J Pediatr Orthop 28: 29-35.
30. Ventura RA, Martin-Subero JI, Jones M, McParland J, Gesk S, Mason DY et al. (2006). FISH analysis for the detection of lymphoma-associated chromosomal abnormalities in routine paraffin-embedded tissue. J Mol Diagn 8: 141-151.
31. Zak BM, Crawford BE, Esko JD. (2002). Hereditary multiple exostoses and heparan sulfate polymerization. Biochim Biophys Acta 1573: 346-355.
32. Zuntini M, Pedrini E, Parra A, Sgariglia F, Gentile FV, Pandolfi M et al. (2010). Genetic models of osteochondroma onset and neoplastic progression: evidence for mechanisms alternative to EXT genes inactivation. Oncogene 29: 3827-3834.