nach oben

Erschienen in:

29.07.2024 | Oncology

Baseline surveillance in Li Fraumeni syndrome using whole-body MRI: a systematic review and updated meta-analysis

verfasst von: Maria Inez Dacoregio, Pedro Cotta Abrahão Reis, Davi Said Gonçalves Celso, Lorena Escalante Romero, Stephan Altmayer, Maysa Vilbert, Fabio Ynoe Moraes, Israel Gomy

Erschienen in: European Radiology | Ausgabe 2/2025

Einloggen, um Zugang zu erhalten

Abstract

Objectives

Li-Fraumeni syndrome (LFS) is a cancer syndrome associated with early-onset neoplasias. The use of whole-body magnetic resonance imaging (WBMRI) is recommended for regular cancer screening, however, evidence supporting the benefits in asymptomatic LFS patients is limited. This study aims to assess the clinical utility of WBMRI in germline TP53 mutation carriers at baseline and follow-up.

Materials and methods

We systematically searched PubMed, Cochrane, and Embase databases for studies evaluating WBMRI as an early detection method for tumor screening in patients with LFS. We pooled the prevalence of the included variables along with their corresponding 95% confidence intervals (CIs). Statistical analyses were performed using R software, version 4.3.1.

Results

From 1687 results, 11 comprising 703 patients (359 females (51%); with a median age of 32 years (IQR 1–74)) were included. An estimated detection rate of 31% (95% CI: 0.28, 0.34) for any suspicious lesions was found in asymptomatic TP53 carriers who underwent baseline WBMRI. A total of 277 lesions requiring clinical follow-up were identified in 215 patients. Cancer was confirmed in 46 lesions across 39 individuals. The estimated cancer diagnosis rate among suspicious lesions was 18% (95% CI: 0.13, 0.25). WBMRI detected 41 of the 46 cancers at an early-disease stage, with an overall detection rate of 6% (95% CI: 0.05, 0.08). The incidence rate was 2% per patient round of WBMRI (95% CI: 0.01, 0.04), including baseline and follow-up.

Conclusion

This meta-analysis provides evidence that surveillance with WBMRI is effective in detecting cancers in asymptomatic patients with LFS.

Clinical relevance statement

Our study demonstrates that whole-body MRI is an effective tool for early cancer detection in asymptomatic Li-Fraumeni Syndrome patients, highlighting its importance in surveillance protocols to improve diagnosis and treatment outcomes.

Key Points

Current evidence for whole-body MRI screening of asymptomatic Li-Fraumeni Syndrome (LFS) patients remains scarce.
Whole-body MRI identified 41 out of 46 cancers at an early stage, achieving an overall detection rate of 6%.
Whole-body MRI surveillance is a valuable method for detecting cancers in asymptomatic LFS patients.

Graphical Abstract

Nur mit Berechtigung zugänglich

Malkin D (2011) Li-Fraumeni syndrome. Genes Cancer 2:475–484. https://doi.org/10.1177/1947601911413466CrossRefPubMedCentralPubMed

Ministry of Health, Brazil (2023) Database of the Brazilian National Health System—DATASUS, Management of the procedures and drugs table of the Brazilian National Health System [Internet]. Available from: http://sigtap.datasus.gov.br/tabela-unificada/app/sec/inicio.jsp. Accessed 11 Sept 2023.

Amadou A, Achatz MI, Hainaut P (2018) Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li-Fraumeni syndrome. Curr Opin Oncol 30:23–29. https://doi.org/10.1097/CCO.0000000000000423CrossRefPubMed

Mai PL, Best AF, Peters JA et al (2016) Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort. Cancer 122:3673–3681CrossRefPubMed

Chompret A, Abel A, Stoppa-Lyonnet D et al (2001) Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet 38:43–47. https://doi.org/10.1136/jmg.38.1.43CrossRefPubMedCentralPubMed

Custódio G, Parise GA, Kiesel Filho N et al (2013) Impact of neonatal screening and surveillance for the TP53 R337H mutation on early detection of childhood adrenocortical tumors. J Clin Oncol 31:2619–2626CrossRefPubMedCentralPubMed

Kratz CP, Achatz MI, Brugières L et al (2017) Cancer screening recommendations for individuals with Li-Fraumeni syndrome. Clin Cancer Res 23:e38–e45. https://doi.org/10.1158/1078-0432.CCR-17-0408CrossRefPubMed

Guha T, Malkin D (2017) Inherited TP53 mutations and the Li-Fraumeni syndrome. Cold Spring Harb Perspect Med 7:a026187. https://doi.org/10.1101/cshperspect.a026187CrossRefPubMedCentralPubMed

Villani A, Shore A, Wasserman JD et al (2016) Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. Lancet Oncol 17:1295–1305. https://doi.org/10.1016/S1470-2045(16)30249-2CrossRefPubMed

10.

Garritano S, Gemignani F, Palmero EI et al (2010) Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect. Hum Mutat 31:143–150. https://doi.org/10.1002/humu.21151CrossRefPubMed

11.

Palmero EI, Schüler-Faccini L, Caleffi M et al (2008) Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil. Cancer Lett 261:21–25. https://doi.org/10.1016/j.canlet.2007.10.044CrossRefPubMed

12.

Ahlawat S, Debs P, Amini B, Lecouvet FE, Omoumi P, Wessell DE (2023) Clinical applications and controversies of whole-body MRI: AJR expert panel narrative review. AJR Am J Roentgenol 220:463–475. https://doi.org/10.2214/AJR.22.28229CrossRefPubMed

13.

Ballinger ML, Best A, Mai PL et al (2017) Baseline surveillance in Li-Fraumeni syndrome using whole-body magnetic resonance imaging: a meta-analysis. JAMA Oncol 3:1634–1639. https://doi.org/10.1001/jamaoncol.2017.1968CrossRefPubMed

14.

Sterne JA, Hernan MA, Reeves BC et al (2016) ROBINS-I: a tool for assessing risk of bias in non-randomised studies of interventions. BMJ 355:i4919. https://doi.org/10.1136/bmj.i4919

15.

Omran M, Tham E, Brandberg Y et al (2022) Whole-body MRI surveillance-baseline findings in the Swedish Multicentre Hereditary TP53-Related Cancer Syndrome Study (SWEP53). Cancers 14:380. https://doi.org/10.3390/cancers14020380CrossRefPubMedCentralPubMed

16.

Mai PL, Khincha PP, Loud JT et al (2017) Prevalence of cancer at baseline screening in the National Cancer Institute Li-Fraumeni Syndrome Cohort. JAMA Oncol 3:1640–1645. https://doi.org/10.1001/jamaoncol.2017.1350CrossRefPubMedCentralPubMed

17.

Paixão D, Guimarães MD, de Andrade KC, Nóbrega AF, Chojniak R, Achatz MI (2018) Whole-body magnetic resonance imaging of Li-Fraumeni syndrome patients: observations from a two rounds screening of Brazilian patients. Cancer Imaging 18:27. https://doi.org/10.1186/s40644-018-0162-8CrossRefPubMedCentralPubMed

18.

Ruijs MWG, Loo CE, van Buchem CAJM, Bleiker EMA, Sonke GS (2017) Surveillance of Dutch patients with Li-Fraumeni Syndrome: The LiFe-Guard Study. JAMA Oncol 3:1733–1734. https://doi.org/10.1001/jamaoncol.2017.1346CrossRefPubMedCentralPubMed

19.

Bojadzieva J, Amini B, Day SF et al (2018) Whole body magnetic resonance imaging (WB-MRI) and brain MRI baseline surveillance in TP53 germline mutation carriers: experience from the Li-Fraumeni Syndrome Education and Early Detection (LEAD) clinic. Fam Cancer 17:287–294. https://doi.org/10.1007/s10689-017-0034-6CrossRefPubMed

20.

Bancroft EK, Saya S, Brown E et al (2020) Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY). J Med Genet 57:226–236. https://doi.org/10.1136/jmedgenet-2019-106407CrossRefPubMed

21.

Tewattanarat N, Junhasavasdikul T, Panwar S et al (2022) Diagnostic accuracy of imaging approaches for early tumor detection in children with Li-Fraumeni syndrome. Pediatr Radiol 52:1283–1295. https://doi.org/10.1007/s00247-022-05296-9CrossRefPubMed

22.

Ballinger ML, Ferris NJ, Moodie K et al (2017) Surveillance in germline TP53 mutation carriers utilizing whole-body magnetic resonance imaging. JAMA Oncol 3:1735–1736. https://doi.org/10.1001/jamaoncol.2017.1355CrossRefPubMedCentralPubMed

23.

O’Neill AF, Voss SD, Jagannathan JP et al (2018) Screening with whole-body magnetic resonance imaging in pediatric subjects with Li-Fraumeni syndrome: a single institution pilot study. Pediatr Blood Cancer 65. https://doi.org/10.1002/pbc.26822

24.

Kagami LAT, Du YK, Fernandes CJ et al (2023) Rates of intervention and cancer detection on initial versus subsequent whole-body MRI screening in Li-Fraumeni syndrome. Cancer Prev Res 16:507–512. https://doi.org/10.1158/1940-6207.CAPR-23-0011CrossRef

25.

Canale S, Vilcot L, Ammari S et al (2014) Whole body MRI in paediatric oncology. Diagn Inter Imaging 95:541–550. https://doi.org/10.1016/j.diii.2013.11.002CrossRef

26.

Anupindi SA, Bedoya MA, Lindell RB et al (2015) Diagnostic performance of whole-body MRI as a tool for Cancer screening in children with genetic Cancer-predisposing conditions. AJR Am J Roentgenol 205:400–408. https://doi.org/10.2214/AJR.14.13663CrossRef

27.

Asdahl PH, Ojha RP, Hasle H et al (2017) Cancer screening in Li-Fraumeni syndrome. JAMA Oncol. https://doi.org/10.1001/jamaoncol.2017.2459.

28.

Consul N, Amini B, Ibarra-Rovira JJ et al (2021) Li-Fraumeni syndrome and whole-body MRI screening: screening guidelines, imaging features, and impact on patient management. AJR Am J Roentgenol 216:252–263CrossRefPubMed

29.

Frankenthal IA, Alves MC, Tak C, Achatz MI (2022) Cancer surveillance for patients with Li-Fraumeni Syndrome in Brazil: a cost-effectiveness analysis. Lancet Reg Health Am 12:100265. https://doi.org/10.1016/j.lana.2022.100265CrossRefPubMedCentralPubMed

30.

Kast K, Krause M, Schuler M et al (2012) Late onset Li-Fraumeni syndrome with bilateral breast cancer and other malignancies: case report and review of the literature. BMC Cancer 12:217. https://doi.org/10.1186/1471-2407-12-217CrossRefPubMedCentralPubMed

31.

Evans DGR, Birch JM, Ramsden RT et al (2006) Malignant transformation and new primary tumours after therapeutic radiation for benign disease: substantial risks in certain tumour prone syndromes. J Med Genet 43:289–294CrossRefPubMed

Titel: Baseline surveillance in Li Fraumeni syndrome using whole-body MRI: a systematic review and updated meta-analysis
verfasst von: Maria Inez Dacoregio
Pedro Cotta Abrahão Reis
Davi Said Gonçalves Celso
Lorena Escalante Romero
Stephan Altmayer
Maysa Vilbert
Fabio Ynoe Moraes
Israel Gomy
Publikationsdatum: 29.07.2024
Verlag: Springer Berlin Heidelberg
Erschienen in: European Radiology / Ausgabe 2/2025
Print ISSN: 0938-7994
Elektronische ISSN: 1432-1084
DOI: https://doi.org/10.1007/s00330-024-10983-2

Pathological prognostic factors of rectal cancer based on diffusion-weighted imaging, intravoxel incoherent motion, and diffusion kurtosis imaging

original article

Measuring repeatability of dynamic contrast-enhanced MRI biomarkers improves evaluation of biological response to radiotherapy in lung cancer

Open Access
Oncology

ESR Bridges: building bridges in MSK imaging: dual-energy CT and bone marrow detection—a multidisciplinary view

Commentary

Magnetic resonance arthrography with positional manoeuvre for the diagnosis of synovial fold of posterior shoulder joint capsule

Open Access
Musculoskeletal

Performance of grayscale combined with contrast-enhanced ultrasound in differentiating benign and malignant pediatric ovarian masses

Paediatric

Letter to the Editor: “Feasibility study on the clinical application of CT-based synthetic brain T1-weighted MRI: comparison with conventional T1-weighted MRI”

Letter to the Editor

Neu im Fachgebiet Radiologie

Ringen um den richtigen Umgang mit Zufallsbefunden

24.04.2025
DGP 2025
Kongressbericht

Wenn 2026 in Deutschland das Lungenkrebsscreening mittels Low-Dose-Computertomografie (LDCT) eingeführt wird, wird es auch viele Zufallsbefunde ans Licht bringen. Das birgt Chancen und Risiken.

Bald 5% der Krebserkrankungen durch CT verursacht

23.04.2025
Computertomografie
Nachrichten

Die jährlich rund 93 Millionen CTs in den USA könnten künftig zu über 100.000 zusätzlichen Krebserkrankungen führen, geht aus einer Modellrechnung hervor. Damit würde eine von 20 Krebserkrankungen auf die ionisierende Strahlung bei CT-Untersuchungen zurückgehen.

Röntgen-Thorax oder LDCT fürs Lungenscreening nach HNSCC?

06.04.2025
Kopf-Hals-Tumoren
Nachrichten

Personen, die an einem Plattenepithelkarzinom im Kopf-Hals-Bereich erkrankt sind, haben ein erhöhtes Risiko für Metastasen oder zweite Primärmalignome der Lunge. Eine Studie hat untersucht, wie die radiologische Überwachung aussehen sollte.

Statine: Was der G-BA-Beschluss für Praxen bedeutet

06.04.2025
Praxis und Beruf
Nachrichten

Nach dem G-BA-Beschluss zur erweiterten Verordnungsfähigkeit von Lipidsenkern rechnet die DEGAM mit 200 bis 300 neuen Dauerpatienten pro Praxis. Im Interview erläutert Präsidiumsmitglied Erika Baum, wie Hausärztinnen und Hausärzte am besten vorgehen.

Update Radiologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen

Springer Medizin

Baseline surveillance in Li Fraumeni syndrome using whole-body MRI: a systematic review and updated meta-analysis