Screening with whole-body MRI (WB-MRI) in pediatric patients with Li Fraumeni syndrome (LFS).

Authors

Allison O'Neill

Allison Frances O'Neill

Dana-Farber Cancer Institute, Boston, MA

Allison Frances O'Neill , Allie Steinberger , Stephan D. Voss , Elizabeth J. Root , Judy Ellen Garber , Lisa Diller

Organizations

Dana-Farber Cancer Institute, Boston, MA, Children's Hospital of Boston, Boston, MA

Research Funding

No funding sources reported

Background: LFS is a rare hereditary cancer syndrome characterized by a high risk of developing a wide range of malignancies. Germline mutations in the tp53 gene confer approximately a 12-fold risk of developing cancer by age 20. Given the potential for diverse malignancies, cancer surveillance in LFS patients is challenging. We piloted the use of WB-MRI for pediatric LFS patients as a cancer screening tool. Methods: Eligibility included: documented tp53 mutation, or obligate carrier status based upon family history/genetic testing, and no recent cancer diagnosis. WB-MRI was performed as a research test, in conjunction with recommended clinical screening based upon family history and clinician recommendation. Our primary aim was to determine the feasibility (defined as 87% completion rate) of obtaining two planned annual MRI scans in 15 pediatric LFS patients. Our secondary aim was to calculate the incidence and describe the characteristics of primary cancers detected. Results: Nine pediatric patients from 5 families have been enrolled and all have successfully completed one WB-MRI. Seven patients were known carriers, and 2 underwent genetic testing in order to enroll in the study. Median age was 12 years, range 6 to 15. Scan time was 60-90 minutes and 2 patients required anesthesia with propofol. There were no acute scan complications. Six of the 9 (67%) scans demonstrated incidental findings (T2 cerebral cortex abnormality, L5-S1 synovial cyst, thoracic syrinx, T12 hemangioma, 2 ovarian cysts, and degenerative disc disease). Only one patient underwent a dedicated follow-up imaging study for an abnormality on WB-MRI. None of the patients required biopsy. All patients had normal screening laboratory work. These results are being presented early to foster collaboration. Conclusions: All patients enrolled on our study tolerated WB-MRI; none were diagnosed with a new malignancy. Although preliminary, our results to date are in contrast to previous reports documenting a high incidence of cancers detected during screening of LFS patients. WB-MRI may be a promising approach to screening; a large multi-center trial will be needed to determine its efficacy in detecting incident cancers and true test characteristics.

Disclaimer

This material on this page is ©2024 American Society of Clinical Oncology, all rights reserved. Licensing available upon request. For more information, please contact licensing@asco.org

Abstract Details

Meeting

2013 ASCO Annual Meeting

Session Type

Poster Session

Session Title

Pediatric Oncology

Track

Pediatric Oncology

Sub Track

Other

Citation

J Clin Oncol 31, 2013 (suppl; abstr 10071)

DOI

10.1200/jco.2013.31.15_suppl.10071

Abstract #

10071

Poster Bd #

41F

Abstract Disclosures