- Status Complete
- Type New application
- Pre-PASC consultation Closed
- Pre-MSAC consultation Closed
- Outcome Supported
Application details
Reason for application
New MBS item.
Service or technology in this application
The proposed medical service is an annual whole body MRI for individuals with germline pathogenic TP53 variants (Li Fraumeni Syndrome).
Type: Investigative
Medical condition this application addresses
Li Fraumeni Syndrome (LFS) is an ultra-rare condition (between 1/5000-1/20,000 of the population) associated with a very high risk of cancers in multiple tissues. LFS is caused by germline pathogenic variants in the TP53 gene. The estimated risk of cancer by age 30 years is 50%, and the lifetime cancer risk approaches 90% for men, and 100% for women. Life expectancy is severely reduced and estimated to be below 40 years of age. The most common cancer types seen in LFS are (in descending order of frequency): breast cancer, sarcomas, brain cancers, adrenocortical carcinoma, but the incidence of almost all cancer types is increased in this population. Most of these cancers are curable if detected early.
Application documents
Application form
Consultation survey
PICO confirmation
Public summary document
PICO confirmation
Public summary document
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Consultation survey and deadlines
- PASC consultation: Closed
- MSAC consultation: Closed Friday 10 June 2022
Meetings to consider this application
- PASC meeting: 12 to 13 August 2021
- ESC meeting: 9 to 10 June 2022
- MSAC meeting: 28 to 29 July 2022