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Central Nervous System SMARCB1/INI1-Deficient Tumor

MedGen UID:
1791533
•Concept ID:
C5555092
•
Neoplastic Process
Synonym: Central Nervous System Tumor, SMARCB1-Mutant

Definition

A group of SMARCB1/INI1 deficient tumors that arise from the central nervous system. It includes highly aggressive and slow-growing tumors. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCentral Nervous System SMARCB1/INI1-Deficient Tumor

Recent clinical studies

Etiology

The expanding family of SMARCB1(INI1)-deficient neoplasia: implications of phenotypic, biological, and molecular heterogeneity.
Agaimy A
Adv Anat Pathol 2014 Nov;21(6):394-410. doi: 10.1097/PAP.0000000000000038. PMID: 25299309

Diagnosis

The expanding family of SMARCB1(INI1)-deficient neoplasia: implications of phenotypic, biological, and molecular heterogeneity.
Agaimy A
Adv Anat Pathol 2014 Nov;21(6):394-410. doi: 10.1097/PAP.0000000000000038. PMID: 25299309

Prognosis

The expanding family of SMARCB1(INI1)-deficient neoplasia: implications of phenotypic, biological, and molecular heterogeneity.
Agaimy A
Adv Anat Pathol 2014 Nov;21(6):394-410. doi: 10.1097/PAP.0000000000000038. PMID: 25299309

Clinical prediction guides

The expanding family of SMARCB1(INI1)-deficient neoplasia: implications of phenotypic, biological, and molecular heterogeneity.
Agaimy A
Adv Anat Pathol 2014 Nov;21(6):394-410. doi: 10.1097/PAP.0000000000000038. PMID: 25299309

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