Baseline results from the UK SIGNIFY study: a whole-body MRI screening study in TP53 mutation carriers and matched controls.
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Date
2017-07-01Author
Saya, S
Killick, E
Thomas, S
Taylor, N
Bancroft, EK
Rothwell, J
Benafif, S
Dias, A
Mikropoulos, C
Pope, J
Chamberlain, A
Gunapala, R
SIGNIFY Study Steering Committee,
Izatt, L
Side, L
Walker, L
Tomkins, S
Cook, J
Barwell, J
Wiles, V
Limb, L
Eccles, D
Leach, MO
Shanley, S
Gilbert, FJ
Hanson, H
Gallagher, D
Rajashanker, B
Whitehouse, RW
Koh, D-M
Sohaib, SA
Evans, DG
Eeles, RA
Type
Journal Article
Metadata
Show full item recordAbstract
In the United Kingdom, current screening guidelines for TP53 germline mutation carriers solely recommends annual breast MRI, despite the wide spectrum of malignancies typically seen in this group. This study sought to investigate the role of one-off non-contrast whole-body MRI (WB MRI) in the screening of asymptomatic TP53 mutation carriers. 44 TP53 mutation carriers and 44 population controls were recruited. Scans were read by radiologists blinded to participant carrier status. The incidence of malignancies diagnosed in TP53 mutation carriers against general population controls was calculated. The incidences of non-malignant relevant disease and irrelevant disease were measured, as well as the number of investigations required to determine relevance of findings. In TP53 mutation carriers, 6 of 44 (13.6, 95% CI 5.2-27.4%) participants were diagnosed with cancer during the study, all of which would be considered life threatening if untreated. Two were found to have two primary cancers. Two participants with cancer had abnormalities on the MRI which were initially thought to be benign (a pericardial cyst and a uterine fibroid) but transpired to be sarcomas. No controls were diagnosed with cancer. Fifteen carriers (34.1, 95% CI 20.5-49.9%) and seven controls (15.9, 95% CI 6.7-30.1%) underwent further investigations following the WB MRI for abnormalities that transpired to be benign (p = 0.049). The cancer detection rate in this group justifies a minimum baseline non-contrast WB MRI in germline TP53 mutation carriers. This should be adopted into national guidelines for management of adult TP53 mutation carriers in addition to the current practice of contrast enhanced breast MRI imaging.
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Subject
SIGNIFY Study Steering Committee
Humans
Neoplasms
Genetic Predisposition to Disease
Magnetic Resonance Imaging
Mass Screening
Incidence
Heterozygote
Mutation
Adult
Middle Aged
Female
Male
Tumor Suppressor Protein p53
Whole Body Imaging
Early Detection of Cancer
Young Adult
United Kingdom
Research team
Magnetic Resonance
Oncogenetics
Language
eng
Date accepted
2017-01-05
License start date
2017-07
Citation
Familial cancer, 2017, 16 (3), pp. 433 - 440
Publisher
SPRINGER