Rhabdoid tumor predisposition syndrome 1

Common Name(s)

Rhabdoid tumor predisposition syndrome 1

The rhabdoid tumor predisposition syndrome is an autosomal dominant cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors ({12:Sevenet et al., 1999}). Rhabdoid tumors are a highly malignant group of neoplasms that usually occur in children less than 2 years of age. Malignant rhabdoid tumors (MRTs) of the kidney were first described as a sarcomatous variant of Wilms tumors ({1:Beckwith and Palmer, 1978}). Later, extrarenal rhabdoid tumor was reported in numerous locations, including the central nervous system (CNS) ({10:Parham et al., 1994}). Classification has been difficult because of considerable variation in the histologic and immunologic characteristics within and between rhabdoid tumors of the liver, soft tissues, and CNS. In the CNS, rhabdoid tumors may be pure rhabdoid tumors or a variant that has been designated atypical teratoid tumor (AT/RT). Genetic Heterogeneity of Rhaboid Tumor Predisposition Syndrome See also RTPS2 ({613325}), caused by germline mutation in the SMARCA4 gene ({603254}) on chromosome 19p13.
 

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Condition Specific Organizations

Following organizations serve the condition "Rhabdoid tumor predisposition syndrome 1" for support, advocacy or research.

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Phase 2 Study of Alisertib Therapy for Rhabdoid Tumors
 

Status: Recruiting

Condition Summary: Malignant Rhabdoid Tumor; Atypical Teratoid Rhabdoid Tumor

 

Last Updated: 12 Jul 2017

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Modified Measles Virus (MV-NIS) for Children and Young Adults With Recurrent Medulloblastoma or Recurrent ATRT
 

Status: Recruiting

Condition Summary: Medulloblastoma, Childhood, Recurrent; Atypical Teratoid/Rhabdoid Tumor; Medulloblastoma Recurrent

 

Last Updated: 16 Feb 2018

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A Phase 1 Study of the EZH2 Inhibitor Tazemetostat in Pediatric Subjects With Relapsed or Refractory INI1-Negative Tumors or Synovial Sarcoma
 

Status: Recruiting

Condition Summary: Rhabdoid Tumors; INI1-negative Tumors; Synovial Sarcoma; Malignant Rhabdoid Tumor of Ovary

 

Last Updated: 5 Feb 2018

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