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SMARCB1 – risk management

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Rhabdoid tumour predisposition syndrome (RTPS) is an autosomal dominant syndrome predisposing to childhood-onset rhabdoid tumours and can be due to a heritable pathogenic variant in the SMARCB1 gene.

Individuals with RTPS typically present before age 12 months and often with synchronous tumours that exhibit aggressive clinical behaviour.r

This risk management guideline has been developed for individuals who have NOT been diagnosed with a relevant cancer/tumour. The care of affected individuals should be individualised based on their clinical situation, and the monitoring they need as part of their treatment and post-treatment follow-up.

The risk management of an individual with a pathogenic variant in two or more genes that confer a predisposition to cancer should also be individualised.

  • Unaffected known or obligate SMARCB1 gene pathogenic variant carriers
  • Individuals at 50% risk of inheriting a pathogenic variant in the SMARCB1 gene

Exclusion criteria

  • Individuals with SMARCA4 gene pathogenic variant
  • Individuals with phenotype compatible with known SMARCB1-related schwannomatosis

The penetrance of germline SMARCB1 pathogenic variant is unknown. Somatic mosaicism contributes to this uncertainty.

Cancer/tumour Risk for this group by age 75 General population by age 75
Rhabdoid tumour Unknown but increased Unable to obtain

The choice of risk management strategy should take into account current age, other health issues and residual cancer risk.

Cancer/tumour type Recommendations*
    Age Strategy and frequency
Rhabdoid tumour – general Surveillance
  • Soon after birth to age 1 year
  • Consider 3-monthly clinical review by paediatrician
  • 1 to 5 years
  • Consider 6-monthly clinical review by paediatrician
Rhabdoid tumour – brain Surveillance If no family history of brain tumours:  
  • Soon after birth to age 1 year
  • Consider 3-monthly head circumference measurement (at time of clinical review)
  • 1 to 5 years
  • Consider 6-monthly head circumference measurement (at time of clinical review)
If family history of childhood onset brain tumours:  
  • Soon after birth to age 5 years
  • Consider 3-monthly brain MRI
Rhabdoid tumour – abdomen or pelvis Surveillance
  • Soon after birth to age 5 years
  • Consider 3-monthly abdominal and pelvic ultrasound

*The impact of lifestyle on cancer risk should be discussed e.g. exercise regularly, maintain a healthy weight, have a healthy diet, limit alcohol intake, do not smoke and avoid excessive sun exposure.

Rhabdoid tumours can occur in almost any anatomic location, commonly in the central nervous system (atypical teratoid/rhabdoid tumour). Other locations include kidneys (renal rhabdoid tumour), head and neck, paravertebral muscles, liver, bladder, mediastinum, retroperitoneum, pelvis (extracranial extrarenal malignant rhabdoid tumour), and ovary (small-cell carcinoma of the ovary).

There are limited data on the effectiveness of surveillance in children at increased risk of RTPS. RTPS is extremely rare, and this limits the ability of clinical researchers to perform large prospective studies to address the utility of surveillance. In addition, there are uncertainties with regard to the natural history of SMARCB1-associated carcinomas.

These recommendations represent expert opinion and are informed by a paper published by attendees of the 2017 American Association for Cancer Research (AACR) Childhood Cancer Predisposition Workshop.r

First degree blood relatives (parents/brothers/sisters/children) are at up to 50% risk of having inherited the pathogenic variant. More distant relatives may also be at risk of inheriting the pathogenic variant. Genetic relatives should be referred to a clinical genetics service or familial cancer centre to discuss predictive genetic testing.

Informing family members about hereditary cancer

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Version 1

Date Summary of changes
6/07/2020 New protocol developed and discussed by the cancer genetics paediatric reference committee at the July 2019 reference committee meeting. Protocol approved for publication as V.1. Review in 1 year.
28/01/2021 The following sections of the protocol were updated to align with the revised eviQ cancer genetics risk management template:
  • Summary: template sentence added
  • Cancer risk management guidelines:
    • Sentence added above table "The choice of risk management strategy should take into account current age, other health issues and residual cancer risk." 
    • "Age to begin" changed to "Age"

The information contained in this document is based on the highest level of available evidence and consensus of the eviQ reference committee regarding their views of currently accepted approaches to care or treatment. Any clinician seeking to apply or consult this document is expected to use independent clinical judgement in the context of individual clinical circumstances to determine any patient's care or treatment. While eviQ endeavours to link to reliable sources that provide accurate information, eviQ and the Cancer Institute NSW do not endorse or accept responsibility for the accuracy, currency, reliability or correctness of the content of linked external information sources. Use is subject to eviQ’s disclaimer available at www.eviQ.org.au

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The currency of this information is guaranteed only up until the date of printing, for any updates please check:

https://www.eviq.org.au/p/3743

10 Aug 2022