Baseline surveillance in Li-Fraumeni syndrome using whole-body magnetic resonance imaging: A meta-analysis Journal Article


Authors: Ballinger, M. L.; Best, A.; Mai, P. L.; Khincha, P. P.; Loud, J. T.; Peters, J. A.; Achatz, M. I.; Chojniak, R.; da Costa, A. B.; Santiago, K. M.; Garber, J.; O'Neill, A. F.; Eeles, R. A.; Evans, D. G.; Bleiker, E.; Sonke, G. S.; Ruijs, M.; Loo, C.; Schiffman, J.; Naumer, A.; Kohlmann, W.; Strong, L. C.; Bojadzieva, J.; Malkin, D.; Rednam, S. P.; Stoffel, E. M.; Koeppe, E.; Weitzel, J. N.; Slavin, T. P.; Nehoray, B.; Robson, M.; Walsh, M.; Manelli, L.; Villani, A.; Thomas, D. M.; Savage, S. A.
Article Title: Baseline surveillance in Li-Fraumeni syndrome using whole-body magnetic resonance imaging: A meta-analysis
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% Cl, 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. (C) 2017 American Medical Association. All rights reserved.
Keywords: neoplasms; mammography; sarcomas; breast-cancer; high familial risk; sensitivity; cohort; criteria; tp53 mutation carriers; maribs
Journal Title: JAMA Oncology
Volume: 3
Issue: 12
ISSN: 2374-2437
Publisher: American Medical Association  
Date Published: 2017-12-01
Start Page: 1634
End Page: 1639
Language: English
ACCESSION: WOS:000418029200009
DOI: 10.1001/jamaoncol.2017.1968
PROVIDER: wos
PUBMED: 28772291
PMCID: PMC5824277
Notes: Lorenzo Mannelli's last name misspelled in the original publication -- Article -- Source: Wos
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  1. Mark E Robson
    473 Robson
  2. Michael Francis Walsh
    77 Walsh