Evidence map›Paper›PMID 40138602›Full record

ArticleJCO precision oncology2025

Utility of Whole-Body Magnetic Resonance Imaging Surveillance in Children and Adults With Cancer Predisposition Syndromes: A Retrospective Study.

Frances Victoria Fajardo Que, Nur Diana Binte Ishak, Shao-Tzu Li, Jeanette Yuen, Tarryn Shaw, Hui Xuan Goh, Zewen Zhang, Jianbang Chiang, Si Yong Yeo, Lee Lian Chew and 2 more

Erratum issuedAbstract read
In one paragraph

Article in JCO precision oncology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
  3. Article
  4. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

12 authors.

Frances Victoria Fajardo QueCancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore.ORCID 0000-0001-7341-4392
Nur Diana Binte IshakCancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore.
Shao-Tzu LiCancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore.
Jeanette YuenCancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore.ORCID 0000-0003-0046-3518
Tarryn ShawCancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore.
Hui Xuan GohCancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore.
Zewen ZhangCancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore.ORCID 0000-0001-9370-8793
Jianbang ChiangCancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore.ORCID 0000-0002-3109-2839
Si Yong YeoLee Kong Chian School of Medicine, Nanyang Technological University, Singapore.
Lee Lian ChewDivision of Oncologic Imaging, National Cancer Centre Singapore, Singapore.
Choon Hua ThngDivision of Oncologic Imaging, National Cancer Centre Singapore, Singapore.ORCID 0000-0003-3687-1265
Joanne NgeowCancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore.ORCID 0000-0003-1558-3627

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeSurveillance improves patient outcomes by diagnosing cancer at an early and curable stage for individuals with cancer predisposition syndromes (CPS). Whole-body magnetic resonance imaging (WB-MRI) provides head-to-thigh imaging in one sitting without radiation exposure and is recommended for individuals with increased risk of multisite tumors or cancers. In this study, we evaluated the diagnostic performance of WB-MRI as a screening tool for Li-Fraumeni syndrome (LFS), constitutional mismatch repair deficiency syndrome, hereditary paraganglioma-pheochromocytoma syndrome (HPGL-PCC), and other CPS.

methodsA retrospective review of patients with CPS seen at the Cancer Genetics Service, National Cancer Center Singapore was conducted. Patients who underwent WB-MRI screening from 2014 to 2024 were identified to determine the sensitivity and specificity of WB-MRI in early cancer detection.

resultsOf the 103 patients with CPS recommended for WB-MRI surveillance, 59 underwent the procedure (57% uptake rate). Among them, 34 (57%) were female and the median age was 32 years (range, 1-74 years). The CPS distributions included 22 (37%) with LFS, 14 (24%) with neurofibromatosis type 1, eight (14%) with Von Hippel Lindau syndrome, and eight (14%) with HPGL-PCC. WB-MRI screening led to a diagnosis of cancer in seven (12%) patients (renal cell carcinoma, prostate adenocarcinoma, osteosarcoma, neuroendocrine tumor); of these, four (57%) received curative treatment. Twelve (20%) patients required additional investigations, with eight (14%) having benign findings. The sensitivity and specificity of WB-MRI in our cohort were 64% and 92%, respectively, with a false-positive rate (FPR) of 8% and a false-negative rate of 36%.

conclusionWB-MRI is an effective screening tool in patients with specific CPS, demonstrating a high specificity and low FPR.

Indexed as

Magnetic Resonance ImagingNeoplastic Syndromes, HereditaryWhole Body ImagingAdolescentAdultAgedChildChild, PreschoolEarly Detection of CancerFemaleHumansInfantMaleMiddle AgedRetrospective StudiesSensitivity and Specificity

Identifiers

PMID40138602
PMCPMC11949220

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.