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Letter
Letters
February 22, 2016

Whole-Body MRI Screening in Children With Li-Fraumeni and Other Cancer Predisposition Syndromes.

We read with interest the original research article by Anupindi et al. [1], “Diagnostic Performance of Whole-Body MRI as a Tool for Cancer Screening in Children With Genetic Cancer-Predisposing Conditions,” published in the August issue of the American Journal of Roentgenology [1]. The authors must be commended for trying to optimize tumor screening in children with genetic susceptibility to cancer. However, we are worried they might have underestimated the potential harms of whole-body MRI as a screening tool. They report a positive predictive value (PPV) and a specificity of 25% and 94 %, respectively, for whole-body MRI in children with the hereditary pheochromocytoma-paraganglioma, Li-Fraumeni syndrome (LFS), and rhabdoid tumor syndromes. Fifty MRI studies were performed in 24 children, and one cancer was found. They based their calculations on four false-positive findings, and this is the figure we dispute. Indeed, three of the MRI studies that were suggestive of malignancy and justified further and sometimes invasive investigations (biopsy, dedicated MRI, and MIBG scanning in patients 1, 4, and 5) in the end did not lead to a cancer diagnosis. These studies were not treated as false-positive findings but as true-negative. The authors' reason was the low probability of cancer as assessed by the radiologists. Nevertheless, the children were invited for complementary investigations. These three MRI studies should be treated as false-positive studies, with lower PPV and specificity as a result (PPV, 14%; 95% CI, 0–58; specificity, 88%; 95% CI, 75–95). The PPV of 14% is almost half the reported estimate and means that fewer than one of seven children with abnormal whole-body MRI really have cancer. Abnormal MRI findings generate considerable distress in a family, and the fact that cancer probability is only low according to the radiologists probably matters little to the children involved or to their parents.
The management of children with cancer predisposition syndromes presents unique challenges, both from medical and human points of view. Despite our reservations, we believe it is essential that studies such as the one by Anupindi et al. [1] are reported because of the scarcity of data regarding surveillance of children genetically at high risk of cancer. It is encouraging to see that whole-body MRI had sensitivity and negative predictive value of 100% and allowed the identification of early-stage papillary thyroid carcinoma in a teenage girl with LFS and a history of total body irradiation. Nevertheless, with only one case of cancer diagnosed over a 4-year period, these estimates must be treated with prudence, even more so considering the clinical and biologic evidence associating LFS with increased radiosensitivity [24].
We have recently completed the recruitment of 107 LFS patients aged 5–71 in the LIFSCREEN clinical trial [5]. This large randomized study aims to determine whether annual screening with whole-body MRI is beneficial. The first results are expected in 2017. In the meantime, we advise caution regarding the use of whole-body MRI as a screening tool in children with cancer predisposition syndromes. We think this imaging modality should only be considered exploratory.

Footnotes

WEB—This is a web exclusive article.
The LIFSCREEN study mentioned at the end of the letter is funded by the French Ligue Nationale contre le Cancer.

References

1.
Anupindi SA, Bedoya MA, Lindell RB, et al. Diagnostic performance of whole-body MRI as a tool for cancer screening in children with genetic cancer-predisposing conditions. AJR 2015; 205:400–408
2.
Mirzayans R, Severin D, Murray D. Relationship between DNA double-strand break rejoining and cell survival after exposure to ionizing radiation in human fibroblast strains with differing ATM/p53 status: implications for evaluation of clinical radiosensitivity. Int J Radiat Oncol Biol Phys 2006; 66:1498–1505
3.
Limacher JM, Frebourg T, Natarajan-Ame S, et al. Two metachronous tumors in the radiotherapy fields of a patient with Li-Fraumeni syndrome. Int J Cancer 2001; 96:238–242
4.
Heymann S, Delaloge S, Rahal A, et al. Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome. Radiat Oncol 2010; 5:104
5.
US National Institutes of Health website. Evaluation of whole body MRI for early detection of cancers in subjects with P53 mutation (Li-Fraumeni syndrome). clinicaltrials.gov/ct2/show/NCT01464086. Accessed August 8, 2015

Information & Authors

Information

Published In

American Journal of Roentgenology
Pages: W52
PubMed: 26901030

History

First published: February 22, 2016

Authors

Affiliations

Patrick R. Benusiglio
Gustave Roussy Cancer Campus, Villejuif, France
Laurence Brugières
Gustave Roussy Cancer Campus, Villejuif, France
Olivier Caron
Gustave Roussy Cancer Campus, Villejuif, France

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