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JAMA Oncol. 2017 Aug 3. doi: 10.1001/jamaoncol.2017.1968. [Epub ahead of print]

Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis.

Author information

1
Cancer Division, Garvan Institute of Medical Research, Sydney, Australia.
2
Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
3
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland.
4
Department of Imaging, A. C. Camargo Cancer Center, São Paulo, Brazil.
5
Department of Medical Oncology, A. C. Camargo Cancer Center, São Paulo, Brazil.
6
National Institute for Oncogenomics, A. C. Camargo Cancer Center, São Paulo, Brazil.
7
Center for Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, Massachusetts.
8
Department of Pediatric Hematology/Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts.
9
Division of Genetics and Epidemiology, The Institute of Cancer Research and Royal Marsden National Health Service Foundation Trust, London, England.
10
Department of Genetic Medicine, St Mary's Hospital, Manchester, England.
11
Division of Psychosocial Research and Epidemiology, the Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam.
12
Department of Medical Oncology, the Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam.
13
Family Cancer Clinic, the Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam.
14
Department of Radiology, the Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam.
15
Department of Pediatric Hematology/Oncology, Huntsman Cancer Institute, University of Utah, Salt Lake City.
16
Department of Genetics, The University of Texas MD Anderson Cancer Center, Houston.
17
Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada.
18
Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada.
19
Department of Pediatrics, Section of Hematology-Oncology, Texas Children's Cancer Center, Baylor College of Medicine, Houston.
20
Department of Internal Medicine, University of Michigan, Ann Arbor.
21
Division of Clinical Cancer Genetics, City of Hope, Duarte, California.
22
Clinical Genetics Service, Memorial Sloan Kettering Cancer Center, New York, New York.
23
Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York.
24
Department of Radiology, Memorial Sloan Kettering Cancer Center, New York, New York.

Abstract

Importance:

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.

Objective:

To assess the clinical utility of WBMRI 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 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.

Results:

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.

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