Rhabdoid tumor predisposition syndrome 2

Common Name(s)

Rhabdoid tumor predisposition syndrome 2

Rhabdoid tumor predisposition syndrome-2 is an autosomal dominant cancer predisposition syndrome characterized by the onset in infancy, childhood, or young adulthood of various poorly differentiated tumors. Classically, tumors that arise in the central nervous system are referred to as atypical teratoid/rhabdoid tumors, whereas those arising in the kidney or other extracranial sites are referred to as malignant rhabdoid tumors. Tumors may also present as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), also known as malignant rhabdoid tumor of the ovary (MRTO). All of these tumors are highly aggressive and often fatal (summary by {1:Foulkes et al., 2014}). See also RTPS1 ({609322}), which is caused by mutation in the SMARCB1 gene ({601607}) on chromosome 22q11.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Rhabdoid tumor predisposition syndrome 2" for support, advocacy or research.

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General Support Organizations

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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: 7 Mar 2018

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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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Study of Stored Tumor Samples in Young Patients With Brain Tumors
 

Status: Recruiting

Condition Summary: Brain and Central Nervous System Tumors

 

Last Updated: 8 Sep 2017

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