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Cancer Imaging. 2018 Aug 14;18(1):27. doi: 10.1186/s40644-018-0162-8.

Whole-body magnetic resonance imaging of Li-Fraumeni syndrome patients: observations from a two rounds screening of Brazilian patients.

Author information

1
Department of Oncogenetics, A.C. Camargo Cancer Center, Professor Antonio Prudente Street, 211 - Liberdade, São Paulo, SP, 01509-900, Brazil. danipaixaop@gmail.com.
2
Department of Imaging, A.C. Camargo Cancer Center, São Paulo, SP, Brazil.
3
Clinical Genetics Branch, Division of Epidemiology and Cancer Genetics, National Cancer Institutes, National Institutes of Health, Bethesda, MD, USA.
4
International Research Center, A.C. Camargo Cancer Center, São Paulo, SP, Brazil.
5
Department of Oncogenetics, A.C. Camargo Cancer Center, Professor Antonio Prudente Street, 211 - Liberdade, São Paulo, SP, 01509-900, Brazil.
6
Centro de Oncologia, Hospital Sírio-Libanês, São Paulo, Brazil.

Abstract

BACKGROUND:

Li-Fraumeni syndrome (LFS) is an autosomal dominant disease that is associated with germline TP53 mutations and it predisposes affected individuals to a high risk of developing multiple tumors. In Brazil, LFS is characterized by a different pattern of TP53 variants, with the founder TP53 p.R337H mutation being predominant. The adoption of screening strategies to diagnose LFS in its early stages is a major challenge due to the diverse spectrum of tumors that LFS patients can develop. The purpose of this study was to evaluate two rounds of whole-body magnetic resonance imaging (WB-MRI) which were conducted as a screening strategy for LFS patients.

METHODS:

Over a 4-year period, 59 LFS patients underwent two rounds of WB-MRI. Each MRI was characterized as positive or negative, and positive cases were further investigated to establish a diagnosis. The parameters used to evaluate the WB-MRI results included: positive rate, number of invasive investigations of positive results, and cancer detection rate.

RESULTS:

A total of 118 WB-MRI scans were performed. Positive results were associated with 11 patients (9.3%). Seven of these patients (11.8%) were identified in the first round of screening and 4 patients (6.7%) were identified in the second round of screening. Biopsies were performed in three cases (2.5%), two (3.4%) after the first round of screening and one (1.7%) after the second round of screening. The histopathological results confirmed a diagnosis of cancer for all three cases. There was no indication of unnecessary invasive procedures.

CONCLUSIONS:

WB-MRI screening of LFS carriers diagnosed cancers in their early stages. When needed, positive results were further examined with non-invasive imaging techniques. False positive results were less frequent after the first round of WB-MRI screening.

KEYWORDS:

Cancer screening; Li-Fraumeni syndrome; TP53; Whole-body MRI; p.R337H mutation

PMID:
30107858
PMCID:
PMC6092833
DOI:
10.1186/s40644-018-0162-8
[Indexed for MEDLINE]
Free PMC Article

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