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DICER1 – risk management (adult)

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DICER1 syndrome is a rare, dominantly inherited hereditary tumour syndrome characterised by the development of specific rare types of benign and malignant tumours. The most frequently reported tumours are pleuropulmonary blastoma, cystic nephroma, multinodular goiter and certain rare types of ovarian tumours (see table).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 DICER1 gene pathogenic variant carrier >18 years of age
  • Adult at 50% risk of inheriting a DICER1 gene pathogenic variant

Exclusion criteria

  • A DICER1 gene pathogenic variant carrier already diagnosed with a relevant cancer/tumour

The penetrance of phenotypes is not known and is variable between and within families; the peak age for presentation is early childhood and early data suggests that for any particular manifestation, penetrance is 15% or less. See Key clinical phenotypes associated with constitutional DICER1 pathogenic variants.

Cancer/tumour type Risk for DICER1 pathogenic variant carrier  General population risk

Any neoplasm (cancer/tumour)

By age 30: 12.4%r

By age 60: 31.5%r

By age 30: 0.9%*

By age 60: 11.8%*
Female reproductive tract 
(Sertoli-Leydig cell tumour of the ovary; cervix embryonal rhabdomyosarcoma)		 Unknown but increased Unable to obtain
Thyroid cancer Unknown but increased By age 70: 0.86%*

*Source: Australian Institute of Health and Welfare (AIHW) 2020 Cancer Data in Australia; Canberra: AIHW. <https://www.aihw.gov.au/reports/cancer/cancer-data-in-australia/>. (2016 data)

There is no international consensus on screening. Enrolment in clinical trials and participation in the International Pleuropulmonary Blastoma/DICER1 Registry is encouraged whenever possible.

There is no international consensus on screening so enrolment in clinical trials and participation in the International Pleuropulmonary Blastoma/DICER1 Registry is encouraged whenever possible.

A consensus of expert opinion regarding surveillance consideration was proposed,r however there is currently no published evidence on the benefit of screening in adults with a DICER1 pathogenic variant.

To date there is no evidence to suggest that treatment outcomes for individuals with germline DICER1 pathogenic variants differ from historical outcomes for the same diseases, although outcomes of therapy for the various tumours associated with DICER1 pathogenic variant have not been rigorously studied.

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 3

Date Summary of changes
24/10/2019

Protocol reviewed by CG reference committee. Approved for publication with the following changes made:

  • Lifetime risk of cancer: section reviewed to align with new protocol ID 3653 DICER 1 - risk management (child). Risk of cancer/tumour table added
  • References: new reference added Stewart et al 2019
  • "Mutation" changed to "pathogenic variant" throughout document for consistency among eviQ cancer genetics protocols per agreement among the cancer genetics reference committees' chairs. Definition of "pathogenic variant" added as a pop-up

Version number increased to V.3. Review at next scheduled review.
18/12/2020 The following sections of the protocol were updated to align with the revised eviQ cancer genetics risk management template:
  • Lifetime risk of cancer table: risk for general population updated to include AIHW 2016 data
  • Cancer risk management guidelines: heading changed to "Cancer/tumour risk management guidelines"
  • Support and information: template wording updated.

Version 2

Date Summary of changes
03/07/2019

Protocol ID 1911 - Risk management for DICER1 syndrome taken to the Nov 2018 RCM for review. Decision was made to divide ID 1911 into two separate protocols - adults and children. Therefore, this protocol (adults) developed and approved for publication. 

  • Published as version 1. To be reviewed in two years. 
28/08/2019 Protocol title changed from 'Risk management for DICER1 syndrome (adults)' to 'DICER1 – risk management (adult)' in accordance with Cancer Genetics Reference Committees' consensus. Version number increased to V.2.

As ID 3569 replaces an existing approved protocol (ID 1911), it's history section is also included below for consistency in documentation.

ID 1911 - Risk management for DICER1 syndrome
Date Summary of changes
29/04/2016

New protocol discussed at March 2016 cancer genetics reference committee meeting.

Approved and published on eviQ. Review second yearly. 
31/05/2017

Transferred to new eviQ website. Version number changed to V.2.

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. 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/3569

01 Mar 2021