Indications for a tumor suppressor gene at 22q11 involved in the pathogenesis of ependymal tumors and distinct from hSNF5/INI1.

摘要: Ependymomas account for approximately 9% of all neuroepithelial tumors and represent the most frequent spinal cord. In adults, allelic loss chromosome arm 22q occurs in up to 60% cases studied. Some these show an altered neurofibromatosis type 2 (NF2) gene; others, NF2 appears be unaffected, indicating involvement another tumor suppressor gene. Recently, gene hSNF5/INI1, located on 22q11.23, has been shown contribute pathogenesis renal extrarenal rhabdoid tumors. addition, this may responsible a new hereditary syndrome predisposing variety designated "rhabdoid predisposition syndrome." present study, we analyzed series 53 ependymal 48 patients [4 myxopapillary ependymomas (WHO grade I), 3 subependymomas 18 II), 21 anaplastic III) ependymoblastomas IV)] mutations homozygous deletions coding region hSNF5/INI1 its flanking chromosomal regions 39 35 patients. Allelic was detected 11 informative primary (31%) with common overlap covered by markers D22S257 D22S310 22q11 including marker D22S301. However, detailed molecular analysis deletion revealed no alterations. We conclude that is not involved human intact locus. our study localizes putative ependymoma gene(s) domain flanked microsatellite D22S310.