With all the hullabaloo surrounding the 2007 revision of the World Health Organization Classification of Tumors of the Central Nervous System (4th edition), the fact that the WHO consensus committee also recognized a new genetic syndrome got lost in the mix. Here's the scoop on the new syndrome:
Rhabdoid Tumor Predisposition Syndrome (RTPS) is characterized by a germline mutation in the INI1 gene (chromosome 22q11.2) and manifested by a marked predisposition toward the development of malignant rhabdoid tumors of infancy and early childhood. The atypical teratoid/rhabdoid tumor (AT/RT) is by far the most common CNS malignacy associated with this syndrome. Up to one-third of AT/RTs are thought to arise in the setting of RTPS. Other tumors that have also been reported in association with this syndrome include: medulloblastoma, choroid plexus carcinoma, and primitive neuroectodermal tumors (PNETs), and, malignant rhabdoid tumor of the kidney. Because of the risks associated with RTPS, it is recommended that the germline status of the INI1 allele be investigated in each new case of AT/RT.
Reference: Brat, Daniel J., et al."Surgical Neuropathology Update: A Review of Changes Introduced by the WHO Clas sification of Tumors of the Central Nervous System, 4th edition" in Archives of Pathology and Laboratory Medicine: 2008;132: 993-1007).
Here is some additional information about the "genetics" of this condition that was written by our Genetic Counselor and other genetic professionals: http://www.accessdna.com/condition/Kallmann_Syndrome/684. I hope it helps. Thanks, AccessDNA
1 Comment
Rhabdoid Tumor Predisposition Syndrome (RTPS) is characterized by a germline mutation in the INI1 gene (chromosome 22q11.2) and manifested by a marked predisposition toward the development of malignant rhabdoid tumors of infancy and early childhood. The atypical teratoid/rhabdoid tumor (AT/RT) is by far the most common CNS malignacy associated with this syndrome. Up to one-third of AT/RTs are thought to arise in the setting of RTPS. Other tumors that have also been reported in association with this syndrome include: medulloblastoma, choroid plexus carcinoma, and primitive neuroectodermal tumors (PNETs), and, malignant rhabdoid tumor of the kidney. Because of the risks associated with RTPS, it is recommended that the germline status of the INI1 allele be investigated in each new case of AT/RT.
Reference: Brat, Daniel J., et al."Surgical Neuropathology Update: A Review of Changes Introduced by the WHO Clas sification of Tumors of the Central Nervous System, 4th edition" in Archives of Pathology and Laboratory Medicine: 2008;132: 993-1007).