Facts for people and families with DICER1 syndrome

DICER1 is a ‘tumour protection’ gene that protects against cancer and benign (non-cancerous) tumours.  

Everyone has two DICER1 genes (one from their mother, and one from their father). If one of the genes is not working, this is known as having a faulty DICER1 gene, or having a DICER1 mutation. People with a faulty DICER1 gene are known to have DICER1 syndrome.

Faults in the DICER1 gene have only recently been discovered and the chance of developing cancer is not yet known. It is estimated that:

• Both males and females with a faulty DICER1 gene have an increased chance of developing early childhood lung cancer (called pleuropulmonary blastoma).
• Both males and females with a faulty DICER1 gene have an increased chance of developing thyroid cancer.
• Both males and females with a faulty DICER1 gene have an increased chance of developing benign tumours of the kidney (called cystic nephroma).
• Females with a faulty DICER1 gene have an increased chance of developing a type of ovarian tumour (called Sertoli-Leydig cell tumour).
• Not everyone who has a faulty DICER1 gene will develop cancer and/or a benign tumour.

 

• To find lung cancer early, people with a faulty DICER1 gene could have a chest x-ray at birth. This x-ray could be repeated every 6 months until 8 years of age. People with a faulty DICER1 gene could also have a CT of their chest at 3 to 6 months of age and again between 2.5 to 3 years of age. 
• To find thyroid cancer early, people with a faulty DICER1 gene should have their thyroid checked with a doctor every year from 8 years of age until 40 years of age. People with a faulty DICER1 gene could also have an ultrasound of their thyroid every 3 years from 8 years of age until 40 years of age. 
• To find kidney tumours early, people with a faulty DICER1 gene could have a renal ultrasound every 6 months from birth until 8 years of age. People with a faulty DICER1 gene could then have a renal ultrasound every year from 8 years of age until 12 years of age.
• To find ovarian tumours early, females with a faulty DICER1 gene could have an ultrasound of their ovaries every year from 8 years of age until 40 years of age.
• People with a faulty DICER1 gene may be able to access screening through enrolment in clinical trials. They can also participate in the International Pleuropulmonary Blastoma registry.

Version 3

Date	Summary of changes
28/02/2022	Consumer sheet reviewed alongside DICER1 - risk management (adult) and DICER1 - risk management (child) protocols. Approved for publication with the following changes made: Key points: minor wording changes What is the risk of cancer and other features?: minor wording changes How can this increased risk of cancer be managed?: Lung cancer: '...should have a chest x-ray...' changed to '...could have a chest x-ray...' '...until 7 years of age' changed to 'until 8 years of age' Thyroid cancer: '...have their thyroid checked by a doctor every year from 8 years of age.' changed to '...every year from 8 years of age until 40 years of age.' Added sentence 'People with a faulty DICER1 gene could also have an ultrasound of their thyroid every 3 years from 8 years of age until 40 years of age.' Kidney tumours: added 'People with a faulty DICER1 gene could then have a renal ultrasound every year from 8 years of age until 12 years of age.' Ovarian tumours: 'There are no reliable methods of screening for ovarian cancer.' changed to 'To find ovarian tumours early...' Version number increased to V.3. To be reviewed again alongside protocol ID 3653 and ID 3569 when next due for review.
19/01/2024	Consumer sheet reviewed following July 2023 paediatric cancer genetics reference committee meeting. No changes made. To be reviewed again alongside protocol ID 3653 and ID 3569 when next due for review.

Version 2

Date

Summary of changes

05/12/2019

Consumer sheet reviewed alongside DICER1 - risk management (adult) and DICER1 - risk management (child) protocols. Approved for publication with the following changes made: Key points: "...developing childhood lung cancer (pleuropulmonary blastoma) and rare benign (non-cancerous) tumours." changed to "developing early childhood lung cancer (pleuropulmonary blastoma) and other rare cancerous and benign (non-cancerous) tumours."  "...increased chance of developing ovarian cancer." changed to "...increased chance of developing a specific type of ovarian tumour (Sertoli-Leydig cell tumour)." What is the risk of cancer and other features of DICER1 syndrome? section "...about a 15% chance of developing childhood lung cancer..." changed to "...an increased chance of developing early childhood lung cancer ..." "Both males and females with a faulty DICER1 gene have an increased chance of developing thyroid cancer." added as second bullet point "Both males and females with a faulty DICER1 gene have an increased chance of developing benign tumours (cystic nephroma) of the kidney" added as third bullet point "...about a 15% chance of developing ovarian cancer..." changed to "...an increased chance of developing a specific type of ovarian tumour..."  How can this risk of cancer be managed? section "To find lung cancer early..." added as first bullet point "To find thyroid cancer early..." added as second bullet point "To find kidney tumours early..." added as third bullet point "There are no reliable methods of screening for lung and ovarian cancer." changed to "There are no reliable methods of screening for ovarian cancer." Version number increased to V.2. To be reviewed again alongside protocol ID 3653 and ID 3569 when next due for review.

Version 1

Date	Summary of changes
27/04/2018	Developed in conjunction with consumer information sheet working group and presented at the November 2017 Cancer Genetics meeting. Discussions continued over email and document approved for publication. V.1.