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Familial Cancer

, Volume 17, Issue 2, pp 287–294 | Cite as

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

  • Jasmina Bojadzieva
  • Behrang Amini
  • Suzanne F. Day
  • Tiffiny L. Jackson
  • Parijatham S. Thomas
  • Brandy J. Willis
  • Whitney R. Throckmorton
  • Najat C. Daw
  • Therese B. Bevers
  • Louise C. Strong
Original Article

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.

Keywords

Whole body MRI Cancer screening Li-Fraumeni syndrome TP53 LEAD clinic 

Notes

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.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Supplementary material

10689_2017_34_MOESM1_ESM.pdf (212 kb)
Supplementary material 1 (PDF 212 KB)

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Copyright information

© Springer Science+Business Media B.V. 2017

Authors and Affiliations

  • Jasmina Bojadzieva
    • 1
  • Behrang Amini
    • 2
  • Suzanne F. Day
    • 3
  • Tiffiny L. Jackson
    • 3
  • Parijatham S. Thomas
    • 3
  • Brandy J. Willis
    • 4
  • Whitney R. Throckmorton
    • 5
  • Najat C. Daw
    • 5
  • Therese B. Bevers
    • 3
  • Louise C. Strong
    • 1
  1. 1.Department of GeneticsThe University of Texas MD Anderson CancerHoustonUSA
  2. 2.Department of Diagnostic RadiologyThe University of Texas MD Anderson CancerHoustonUSA
  3. 3.Department of Cancer PreventionThe University of Texas MD Anderson CancerHoustonUSA
  4. 4.Department of Imaging PhysicsThe University of Texas MD Anderson CancerHoustonUSA
  5. 5.Department of PediatricsMD Anderson CancerHoustonUSA

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