Abstract
Importance
There are limited guidelines for clinical management in Li-Fraumeni syndrome, a multi-organ cancer predisposition condition. Whole body magnetic resonance imaging may play a role in surveillance of this high risk population.
Objective
To assess the clinical utility of whole body magnetic resonance imaging in germline TP53 mutation carriers at baseline.
Data Sources
Clinical and research surveillance cohorts were identified through the Li-Fraumeni Exploration Research Consortium.
Study selection
Cohorts that incorporated whole body magnetic resonance imaging for individuals with germline TP53 mutations were included.
Data extraction and synthesis
Data was extracted by investigators from each cohort independently and synthesized by two investigators. Random effects meta-analysis methods were used to estimate proportions.
Main outcomes and measures
The proportion of participants at baseline in whom a lesion was detected that required follow up and in whom a new primary malignancy was detected.
Results
A total 578 participants from 13 cohorts were included in the analysis. Two hundred twenty-five lesions requiring clinical follow up were detected by whole body magnetic resonance imaging in 173 participants. Sixty-one lesions were diagnosed in 54 individuals as either benign or malignant neoplasms. Overall, 42 cancers were identified in 39 individuals, with 35 new localized cancers treated with curative intent. The overall detection rate for new localized primary cancers was 7% (95% Confidence Interval 5-9%).
Conclusions and relevance
These data suggest clinical utility in baseline whole body magnetic resonance imaging in TP53 germline mutation carriers, and may form an integral part of baseline clinical risk management in this high-risk population.
There are limited guidelines for clinical management in Li-Fraumeni syndrome, a multi-organ cancer predisposition condition. Whole body magnetic resonance imaging may play a role in surveillance of this high risk population.
Objective
To assess the clinical utility of whole body magnetic resonance imaging in germline TP53 mutation carriers at baseline.
Data Sources
Clinical and research surveillance cohorts were identified through the Li-Fraumeni Exploration Research Consortium.
Study selection
Cohorts that incorporated whole body magnetic resonance imaging for individuals with germline TP53 mutations were included.
Data extraction and synthesis
Data was extracted by investigators from each cohort independently and synthesized by two investigators. Random effects meta-analysis methods were used to estimate proportions.
Main outcomes and measures
The proportion of participants at baseline in whom a lesion was detected that required follow up and in whom a new primary malignancy was detected.
Results
A total 578 participants from 13 cohorts were included in the analysis. Two hundred twenty-five lesions requiring clinical follow up were detected by whole body magnetic resonance imaging in 173 participants. Sixty-one lesions were diagnosed in 54 individuals as either benign or malignant neoplasms. Overall, 42 cancers were identified in 39 individuals, with 35 new localized cancers treated with curative intent. The overall detection rate for new localized primary cancers was 7% (95% Confidence Interval 5-9%).
Conclusions and relevance
These data suggest clinical utility in baseline whole body magnetic resonance imaging in TP53 germline mutation carriers, and may form an integral part of baseline clinical risk management in this high-risk population.
| Original language | English |
|---|---|
| Journal | JAMA oncology |
| Early online date | 3 Aug 2017 |
| DOIs | |
| Publication status | Published - 2017 |
