A major study confirms, for the first time, that whole-body MRI detects primary cancers in people with an inherited cancer risk condition called Li-Fraumeni syndrome at an early and curable stage.
Li-Fraumeni syndrome is a rare and devastating condition caused by mutations in the TP53 gene and characterised by high cancer risk at multiple body sites.
Half of those with Li-Fraumeni syndrome will develop their first cancer by the age of 30, and almost all will have cancer in their lifetime. Despite this near-inevitability, there is no universally accepted approach to managing cancer risk in Li-Fraumeni syndrome –largely because it is difficult to justify invasive organ-by-organ screening approaches for multi-organ cancer syndromes.
To address this issue, an international consortium of researchers sought to determine whether whole-body MRI could play a role in surveillance of those with Li-Fraumeni syndrome.
The findings were clear. A previously unidentified primary cancer was detected in one in 14 adults undergoing their first whole-body MRI. In children, the detection rate was higher still: a primary cancer was identified in one in seven children. Primary cancers were detected in the bone, soft tissue, breast, brain, lung, kidney, thyroid, prostate and bowel. In all, 35 new primary cancers were detected and all were treated with curative intent.
Professor David Thomas, at Garvan Institute of Medical Research, said that the screen picks up cancers before symptoms appear and at a high rate. This makes it possible to treat those cancers before they have had a chance to spread.
Research findings also confirm that the findings using whole-body MRI compare favourably with breast MRI, which is currently approved for screening of women at increased risk of breast cancer.
“In our analysis, the detection rate of primary cancers was several-fold higher than has been reported for breast MRI in women at high risk of breast cancer (BRCA1/2 carriers) – which is typically about one cancer in every 50 women screened. And the false positive rate – the detection of lesions that turn out not to be new primary cancers – is also comparable to that observed for breast MRI in at-risk populations,” said Professor Thomas.
Dr Mandy Ballinger at Garvan said that the study is likely to herald a change in thinking around the clinical management of hereditary cancer risk.
“Typically, individuals with Li-Fraumeni syndrome have been monitored for new cancers in only those few organs where robust screening approaches exist – in breast, for instance. But in Li-Fraumeni syndrome and in other cases of high cancer risk, cancers can appear at any time, in any organ. This means that this organ-specific approach inevitably fails to pick up most cancers.”
These findings, which are set to change clinical practice in monitoring those at high genetic risk of cancer, have been recently published in the leading cancer journal JAMA Oncology.
The news article was first published on the Garvan website.
ACRF has supported cancer research at Garvan by providing three grants, totalling AUD $6.13million, towards cutting edge cancer research equipment and technology.
Image: Dr Ballinger and Prof Thomas. Image courtesy of Garvan.