{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T21:48:05Z","timestamp":1761947285272},"reference-count":0,"publisher":"Wiley","issue":"1-2","license":[{"start":{"date-parts":[[2000,1,1]],"date-time":"2000-01-01T00:00:00Z","timestamp":946684800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Sarcoma"],"published-print":{"date-parts":[[2005,1]]},"abstract":"<jats:p><jats:italic>Purpose:<\/jats:italic> The purpose of this case report is to bring to light this unusual combination of two rare diseases, namely\nNeimann\u2010Pick disease Type B and clear cell chondrosarcoma occurring in the same patient. This has not previously been\nreported in the world literature.<\/jats:p><jats:p><jats:italic>Subject:<\/jats:italic> Niemann\u2010Pick disease (NPD) is a rare autosomal recessive inborn error of metabolism. Type B NPD is even rarer.\nIt is a lysosomal storage disorder affecting children and adolescents often causing death in early childhood, although in\nmilder form patients may survive up to adulthood, like our patient. Clear cell chondrosarcoma is a very rare type of\nchondrosarcoma affecting the epiphyseo\u2010metaphyseal region of long bones. We present a patient suffering from a milder\nform of Neimann Pick disease who developed a clear cell chondrosarcoma. We investigated to find if there was likely to be\nany relationship between these two events.<\/jats:p><jats:p><jats:italic>Results:<\/jats:italic> NPD type B is caused by a three\u2010base deletion in chromosome 11. Chondrosarcoma and multiple exostoses occur\ndue to loss of tumour suppressor gene EXT 2 from centromeric region on chromosome 11, though it is difficult to establish\nthe link between the two, as the two together have not yet been reported in the literature. NPD may present diagnostic\ndifficulties when it occurs with chondrosarcoma.<\/jats:p><jats:p><jats:italic>Discussion:<\/jats:italic> We conclude that the two diseases have not been reported together in the world literature and there is some\nevidence to show that chromosome 11 is central to both diseases. More research is needed to see if one leads to the other.<\/jats:p>","DOI":"10.1080\/13577140500090030","type":"journal-article","created":{"date-parts":[[2005,9,7]],"date-time":"2005-09-07T05:09:51Z","timestamp":1126069791000},"page":"33-36","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Clear Cell Chondrosarcoma in Association With Niemann\u2010Pick Disease"],"prefix":"10.1155","volume":"9","author":[{"given":"K. N.","family":"Srikanth","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Kulkarni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. M.","family":"Davies","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V. P.","family":"Sumathi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. J.","family":"Grimer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,1]]},"container-title":["Sarcoma"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/sarcoma\/2005\/294265.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1080\/13577140500090030","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,9]],"date-time":"2024-08-09T12:10:31Z","timestamp":1723205431000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1080\/13577140500090030"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,1]]},"references-count":0,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2005,1]]}},"alternative-id":["10.1080\/13577140500090030"],"URL":"https:\/\/doi.org\/10.1080\/13577140500090030","archive":["Portico"],"relation":{},"ISSN":["1357-714X","1369-1643"],"issn-type":[{"type":"print","value":"1357-714X"},{"type":"electronic","value":"1369-1643"}],"subject":[],"published":{"date-parts":[[2005,1]]},"assertion":[{"value":"2005-01-01","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}