{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T16:55:05Z","timestamp":1771692905697,"version":"3.50.1"},"reference-count":22,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2011,5,16]],"date-time":"2011-05-16T00:00:00Z","timestamp":1305504000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2011,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ollier disease and Maffucci syndrome are rare, nonhereditary skeletal disorders characterized by the presence of multiple enchondromas with (Maffucci) or without (Ollier) co\u2010existing multiple hemangiomas of soft tissue. Enchondromas can progress toward central chondrosarcomas. <jats:italic>PTH1R<\/jats:italic> mutations are found in a small subset of Ollier patients. The genetic deficit in Maffucci syndrome is unknown. Here, we report the first genome\u2010wide analysis using Affymetrix SNP 6.0 array on Maffucci enchondromas (<jats:italic>n<\/jats:italic> = 4) and chondrosarcomas (<jats:italic>n<\/jats:italic> = 2) from four cases. Results were compared to a previously studied cohort of Ollier patients (<jats:italic>n<\/jats:italic> = 37). We found no loss of heterozygosity (LOH) or common copy number alterations shared by all enchondromas, with the exception of some copy number variations. As expected, chondrosarcomas were found to have multiple genomic imbalances. This is similar to conventional solitary and Ollier\u2010related enchondromas and chondrosarcomas and supports the multistep genetic progression model. Expression profiling using Illumina BeadArray\u2010v3 chip revealed that cartilaginous tumors in Maffucci patients are more similar to such tumors in Ollier patients than to sporadic cartilage tumors. Point mutations in a single gene or other copy number neutral genomic changes might play a role in enchondromagenesis. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gcc.20889","type":"journal-article","created":{"date-parts":[[2011,5,16]],"date-time":"2011-05-16T15:09:31Z","timestamp":1305558571000},"page":"673-679","source":"Crossref","is-referenced-by-count":7,"title":["Maffucci syndrome: A genome\u2010wide analysis using high resolution single nucleotide polymorphism and expression arrays on four cases"],"prefix":"10.1002","volume":"50","author":[{"given":"Twinkal C.","family":"Pansuriya","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Oosting","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suzan H. M.","family":"Verdegaal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adrienne M.","family":"Flanagan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raf","family":"Sciot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lars\u2010Gunnar","family":"Kindblom","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pancras C. W.","family":"Hogendoorn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karoly","family":"Szuhai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith V. M. G.","family":"Bov\u00e9e","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,5,16]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00009957-200303000-00013"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrc2869"},{"key":"e_1_2_6_4_1","doi-asserted-by":"crossref","unstructured":"Bowen ME Boyden ED Holm IA Campos\u2010Xavier B Bonafe L Ikegawa S Cormier\u2010 Daire V Bov\u00e9e JVMG Pansuriya TC De Sousa SB Savarirayan R Vikkula M Garavelli L Kozakewich HP Kasser JR Seidman JD Kurek KC Warman ML.2011. Loss\u2010of\u2010function mutations in PTPN11 causes metachondromatosis but not Ollier disease or Maffucci syndrome.","DOI":"10.1371\/journal.pgen.1002050"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.748"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33567"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn176"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(197708)40:2<818::AID-CNCR2820400234>3.0.CO;2-B"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng844"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.749"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-197355070-00014"},{"key":"e_1_2_6_12_1","first-page":"237","volume-title":"World Health Organization classification of tumours. Pathology and genetics of tumours of soft tissue and bone","author":"Lucas DR","year":"2002"},{"key":"e_1_2_6_13_1","first-page":"399","article-title":"Di un caso encondroma ed angioma multiplo","volume":"3","author":"Maffucci A","year":"1881","journal-title":"Movimento Medico\u2010chirurgico, Napoli"},{"key":"e_1_2_6_14_1","first-page":"403","article-title":"[Maffucci's syndrome with intracranial manifestation and chromosome abnormalities\u2013a case report]","volume":"14","author":"Matsumoto N","year":"1986","journal-title":"No Shinkei Geka"},{"key":"e_1_2_6_15_1","first-page":"356","volume-title":"World Health Organization Classification of Tumours. Pathology and genetics of tumours of soft tissue and bone","author":"Mertens F","year":"2002"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0320(19980415)34:2<87::AID-CYTO5>3.0.CO;2-9"},{"key":"e_1_2_6_17_1","first-page":"557","article-title":"Enchondromatosis: Insights on the different subtypes","volume":"3","author":"Pansuriya T","year":"2010","journal-title":"Int J Clin Exp Pathol"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-2"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20095"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-37"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000991"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02386711"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiographics.21.5.g01se301311"}],"container-title":["Genes, Chromosomes and Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fgcc.20889","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.20889","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T13:12:33Z","timestamp":1697461953000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gcc.20889"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,5,16]]},"references-count":22,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2011,9]]}},"alternative-id":["10.1002\/gcc.20889"],"URL":"https:\/\/doi.org\/10.1002\/gcc.20889","archive":["Portico"],"relation":{},"ISSN":["1045-2257","1098-2264"],"issn-type":[{"value":"1045-2257","type":"print"},{"value":"1098-2264","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,5,16]]}}}