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Condition report · Cancer

Rhabdoid Tumor Predisposition Syndrome

Inherited variants in SMARCB1, SMARCA4 or SMARCE1 that raise the risk of rhabdoid tumours in infancy and, depending on the gene, of certain ovarian tumours or meningiomas.

A condition report looks for rare variants known to cause the conditions it covers.

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The 2 conditions we analyse

Familial rhabdoid tumour

Autosomal dominant

SMARCB1- or SMARCA4-related predisposition to atypical teratoid/rhabdoid tumours of the brain and rhabdoid tumours of the kidney and soft tissue in early childhood; SMARCA4 also causes small cell carcinoma of the ovary.

What a diagnosis changes

Brain and abdominal imaging in early childhood; relatives can be offered testing.

Genes analysed

Also known as

familial posterior fossa brain tumor syndrome of infancy; familial posterior fossa brain tumour syndrome of infancy; hereditary rhabdoid tumor; hereditary rhabdoid tumour; rhabdoid predisposition syndrome; rhabdoid tumor predisposition syndrome; rhabdoid tumour predisposition syndrome; RTPS

Includes 2 related subtypes ↓
  • rhabdoid tumor predisposition syndrome 1
  • rhabdoid tumor predisposition syndrome 2
MONDO:0016473Orphanet 231108MedGen 457750

Familial meningioma

Autosomal dominant

Inherited predisposition to meningiomas, including clear-cell meningiomas caused by SMARCE1 variants.

What a diagnosis changes

Brain and spine imaging may be offered.

Genes analysed

Also known as

hereditary meningioma; hereditary meningioma (disease); meningioma; meningioma, NF2-related, somatic; meningioma, SIS-related

MONDO:0011789OMIM 607174MedGen 764829

Limitations

  • Whole-gene SMARCB1 deletions and larger 22q11.23 deletions are common and need copy-number analysis; they may not be detected.

Other cancer conditions

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