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Whole body magnetic resonance imaging (WB-MRI) and brain MRI baseline surveillance in TP53 germline mutation carriers: experience from the Li-Fraumeni Syndrome Education and Early Detection (LEAD) clinic

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Abstract

Individuals with Li-Fraumeni syndrome (LFS) have a significantly increased lifetime cancer risk affecting multiple organ sites. Therefore, novel comprehensive screening approaches are necessary to improve cancer detection and survival in this population. The objective of this study was to determine the diagnostic performance of whole body MRI (WB-MRI) and dedicated brain MRI screening as part of a comprehensive screening clinic called Li-Fraumeni Education and Early Detection (LEAD) at MD Anderson Cancer Center. Adult (≥21 year old) and pediatric (<21 year old) patients were referred to the LEAD clinic by healthcare providers or self-referred and screened at 6 month intervals. During the study period, 63 LFS individuals were seen in the LEAD clinic including 49 adults (11 male, 38 female) and 14 children (7 male, 7 female). Fifty-three of 63 potentially eligible individuals underwent baseline WB-MRI (41 adults and 12 children) with primary tumors detected in six patients, tumor recurrence in one patient and cancer metastases in one patient. Thirty-five of 63 patients (24 adults and 11 children) underwent baseline brain MRI with primary brain tumors detected in three individuals, also noted on subsequent WB-MRI scans. Three additional tumors were diagnosed that in retrospect review were missed on the initial scan (false negatives) and one tumor noted, but not followed up clinically, was prospectively found to be malignant. The high incidence of asymptomatic tumors identified in this initial screening (13%), supports the inclusion of WB-MRI and brain MRI in the clinical management of individuals with LFS.

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Acknowledgements

We would like to thank Michelle Jackson, MS, CGC and Jessica Profato-Partlow, MS, CGC for their help in setting up the LEAD clinic and coordinating the initial patient visits.

Funding

We are very grateful to the Ann Parsons Endowment for Pediatric Genetics for providing funding to Louise C. Strong for the LFS research program including data collection for this report.

Author information

Authors and Affiliations

  1. Department of Genetics, The University of Texas MD Anderson Cancer, 1515 Holcombe Blvd, Houston, TX, 77030, USA

    Jasmina Bojadzieva & Louise C. Strong

  2. Department of Diagnostic Radiology, The University of Texas MD Anderson Cancer, Houston, TX, USA

    Behrang Amini

  3. Department of Cancer Prevention, The University of Texas MD Anderson Cancer, Houston, TX, USA

    Suzanne F. Day, Tiffiny L. Jackson, Parijatham S. Thomas & Therese B. Bevers

  4. Department of Imaging Physics, The University of Texas MD Anderson Cancer, Houston, TX, USA

    Brandy J. Willis

  5. Department of Pediatrics, MD Anderson Cancer, Houston, TX, USA

    Whitney R. Throckmorton & Najat C. Daw

Authors
  1. Jasmina Bojadzieva
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  2. Behrang Amini
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  3. Suzanne F. Day
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  4. Tiffiny L. Jackson
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  10. Louise C. Strong
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Correspondence to Louise C. Strong.

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Bojadzieva, J., Amini, B., Day, S.F. et al. Whole body magnetic resonance imaging (WB-MRI) and brain MRI baseline surveillance in TP53 germline mutation carriers: experience from the Li-Fraumeni Syndrome Education and Early Detection (LEAD) clinic. Familial Cancer 17, 287–294 (2018). https://doi.org/10.1007/s10689-017-0034-6

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