| Written | 1999-03 | Jean-Loup Huret |
| | Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Updated | 2000-01 | Jean-Loup Huret |
| | Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Updated | 2000-02 | Nicolas Sévenet |
| | Laboratoire de Pathologie Moleculaire des Cancers, INSERM U 509, Institut Curie, Paris, France |
| Note | the following observations have suggested that a new cancer-prone disease, related to the gene hSNF5/INI, could be delineated: two siblings with a paravertebral malignant rhabdoid tumor in the first year of life and a poor outcome; no family history; renal rhabdoid tumors associated with tumors of the central nervous system in a given patient germ-line mutations of INI1 identified in four children, three with renal rhabdoid tumors and one with an atypical teratoid tumor of the brain (out of 18 atypical teratoid and rhabdoid tumors studied) and 4 recent pedigrees with - malignant rhabdoid tumor, choroid plexus carcinoma, atypical teratoid tumor, medulloblastoma, and/or primitive neuroectodermal tumor, - either occurring in sibs or in a given patient, - with a INI1 point mutation in the tumor DNA and loss of wild type allele and/or heterozygosity for the mutation in constitutional DNA |
| Phenotype and clinics | no apparent stigmata |
| Neoplastic risk | malignant rhabdoid tumors and atypical teratoid tumors, choroid plexus carcinomas, medulloblastomas, and primitive neuroectodermal tumors; highly aggressive tumors; very early onset in children or infants, and, apparently , high penetrance |
| Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. |
| Biegel JA, Zhou JY, Rorke LB, Stenstrom C, Wainwright LM, Fogelgren B |
| Cancer research. 1999 ; 59 (1) : 74-79. |
| PMID 9892189 |
| |
| Paravertebral malignant rhabdoid tumor in infancy. In vitro studies of a familial tumor. |
| Lynch HT, Shurin SB, Dahms BB, Izant RJ Jr, Lynch J, Danes BS |
| Cancer. 1983 ; 52 (2) : 290-296. |
| PMID 6861072 |
| |
| Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations. |
| Sévenet N, Lellouch-Tubiana A, Schofield D, Hoang-Xuan K, Gessler M, Birnbaum D, Jeanpierre C, Jouvet A, Delattre O |
| Human molecular genetics. 1999 ; 8 (13) : 2359-2368. |
| PMID 10556283 |
| |
