Does baseline whole-body magnetic resonance imaging detect asymptomatic cancers at a curable stage in germline TP53 mutation carriers?
In a meta-analysis of 13 cohorts that included 578 participants, the estimated overall detection rate for previously unrecognized new, localized malignant neoplasms by a single baseline scan in TP53 mutation carriers was 7%, and the false-positive rate was 42.5%. All screen-detected new cancers were treated with curative intent.
Baseline evaluation with whole-body magnetic resonance imaging offers important clinical utility in the management of cancer risk in TP53 mutation carriers.
Guidelines for clinical management in Li-Fraumeni syndrome, a multiple-organ cancer predisposition condition, are limited. Whole-body magnetic resonance imaging (WBMRI) may play a role in surveillance of this high-risk population.
To assess the clinical utility of WBMRI in germline TP53 mutation carriers at baseline.
Clinical and research surveillance cohorts were identified through the Li-Fraumeni Exploration Research Consortium.
Cohorts that incorporated WBMRI for individuals with germline TP53 mutations from January 1, 2004, through October 1, 2016, were included.
Data Extraction and Synthesis
Data were extracted by investigators from each cohort independently and synthesized by 2 investigators. Random-effects meta-analysis methods were used to estimate proportions.
Main Outcomes and Measures
The proportions of participants at baseline in whom a lesion was detected that required follow-up and in whom a new primary malignant neoplasm was detected.
A total of 578 participants (376 female [65.1%] and 202 male [34.9%]; mean [SD] age, 33.2 [17.1] years) from 13 cohorts in 6 countries were included in the analysis. Two hundred twenty-five lesions requiring clinical follow-up were detected by WBMRI in 173 participants. Sixty-one lesions were diagnosed in 54 individuals as benign or malignant neoplasms. Overall, 42 cancers were identified in 39 individuals, with 35 new localized cancers treated with curative intent. The overall estimated detection rate for new, localized primary cancers was 7% (95% CI, 5%-9%).
Conclusions and Relevance
These data suggest clinical utility of baseline WBMRI in TP53 germline mutation carriers and may form an integral part of baseline clinical risk management in this high-risk population.
Ballinger ML, Best A, Mai PL, et al. Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance ImagingA Meta-analysis. JAMA Oncol. 2017;3(12):1634–1639. doi:10.1001/jamaoncol.2017.1968
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