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Screening with whole‐body magnetic resonance imaging in pediatric subjects with Li–Fraumeni syndrome: A single institution pilot study
Author(s) -
O'Neill Allison F.,
Voss Stephan D.,
Jagannathan Jyothi P.,
Kamihara Junne,
Nibecker Callie,
ItriagoAraujo Elena,
Masciari Serena,
Parker Erin,
Barreto Mauricio,
London Wendy B.,
Garber Judy E.,
Diller Lisa
Publication year - 2018
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.26822
Subject(s) - medicine , magnetic resonance imaging , cancer , li–fraumeni syndrome , biopsy , pediatric cancer , radiology , prospective cohort study , germline mutation , surgery , mutation , biochemistry , chemistry , gene
Background Li–Fraumeni syndrome (LFS) is an autosomal dominant hereditary cancer syndrome associated with germline mutations in the TP53 gene and a high risk of childhood‐onset malignancies. Cancer surveillance is challenging in pediatric mutation carriers given the anatomic spectrum of malignancies and young age of onset. Whole‐body magnetic resonance imaging (WB‐MRI) may provide an acceptable method for early cancer detection. Procedure We conducted a prospective feasibility pilot study of pediatric subjects (age < 18 years) with LFS to determine return rates for annual WB‐MRI scan. Secondary objectives included characterization of incident cancers (and how they were detected). Results Forty‐five WB‐MRI scans in 20 subjects were performed over 5 years; two patients enrolled without subsequently undergoing scans. Eighty‐nine percent of participants scanned (95% confidence interval: 67–99%) returned for second examinations. Fifty‐five percent of participants required general anesthesia, which was well tolerated in all cases. Six patients required dedicated follow‐up imaging. One participant required biopsy of a detected brain lesion; pathology demonstrated reactive gliosis. Another participant, with prior choroid plexus carcinoma, had a new brain lesion detected on clinical follow‐up MRI not seen on WB‐MRI 6 months prior. All other participants remain well (median: 3 years, range: 0.08–4 years). Conclusions WB‐MRI in pediatric subjects is a well‐tolerated approach to cancer surveillance despite the need for general anesthesia in some patients. A large multicenter trial would determine true test characteristics and efficacy of this approach for early cancer detection in children at high cancer risk.