{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T15:35:37Z","timestamp":1770824137228,"version":"3.50.1"},"reference-count":41,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2002,4,26]],"date-time":"2002-04-26T00:00:00Z","timestamp":1019779200000},"content-version":"vor","delay-in-days":25,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropathology Appl Neurobio"],"published-print":{"date-parts":[[2002,4]]},"abstract":"<jats:p>Medulloblastomas (MBs) are malignant primitive neuroectodermal tumours (PNETs) of the cerebellum occurring predominantly in childhood. The association of monosomy of chromosome 22 with MB is controversial. Atypical teratoid\/rhabdoid tumours (AT\/RTs) of the brain share clinical and histological features with MBs and supratentorial PNETs (sPNETs). In particular, AT\/RTs can be misdiagnosed as MBs and sPNETs because AT\/RTs frequently contain areas of primitive neuroepithelial cells similar to PNETs. Recently, mutations of the tumour suppressor gene <jats:italic>hSNF5\/INI1<\/jats:italic>, located on 22q11.23, have been described in AT\/RTs, MBs and sPNETs, with conflicting data on the prevalence of <jats:italic>hSNF5\/INI1<\/jats:italic> mutations in the latter entities. Therefore, we screened MBs for point mutations and homozygous deletions of the <jats:italic>hSNF5\/INI1<\/jats:italic> tumour suppressor gene. In 90 MBs, no mutations of the <jats:italic>hSNF5\/INI1<\/jats:italic> gene were identified. Thus, our study virtually rules out <jats:italic>hSNF5\/INI1<\/jats:italic> as a tumour suppressor gene involved in the pathogenesis of medulloblastoma.<\/jats:p>","DOI":"10.1046\/j.1365-2990.2002.00388.x","type":"journal-article","created":{"date-parts":[[2003,3,12]],"date-time":"2003-03-12T14:53:20Z","timestamp":1047480800000},"page":"136-141","source":"Crossref","is-referenced-by-count":17,"title":["Human medulloblastomas lack point mutations and homozygous deletions of the <i>hSNF5\/INI1<\/i> tumour suppressor gene"],"prefix":"10.1111","volume":"28","author":[{"given":"J. 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