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

Sep 24, 2026

Surveillance improves outcomes for individuals with cancer predisposition syndromes (CPS) by enabling early, curable cancer detection. Whole-body magnetic resonance imaging (WB-MRI) offers head-to-thigh imaging in a single session without radiation exposure and is recommended for people at increased risk of multisite tumors. This retrospective study evaluated WB-MRI diagnostic performance for Li-Fraumeni syndrome, constitutional mismatch repair deficiency syndrome, hereditary paraganglioma-pheochromocytoma syndrome, and other CPS.

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Original Reports | Cancer Genetics Utility of Whole-Body Magnetic Resonance Imaging Surveillance in Children and Adults With Cancer Predisposition Syndromes: A Retrospective Study Frances Victoria Fajardo Que, MD1 ; Nur Diana Binte Ishak, MGC1; Shao-Tzu Li, MS, CGC1; Jeanette Yuen, MGC1 ; Tarryn Shaw, MSc, GC1; Hui Xuan Goh, MGC1; Zewen Zhang, MD1 ; Jianbang Chiang, MD1 ; Si Yong Yeo, PhD2; Lee Lian Chew, MBBS, MMed, FRCR3; Choon Hua Thng, MBBS, FRCR, FAMS3 ; and Joanne Ngeow, MBBS, FRCP, MPH1,3,2 DOI [https://doi.org/10.1200/PO-24-00642](https://doi.org/10.1200/PO-24-00642) | ABSTRACT | | | --- | --- | | PURPOSE | Surveillance 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 (HPGLPCC), and other CPS. | | METHODS | A 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. | | RESULTS | Of 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% . | | CONCLUSION | WB-MRI is an effective screening tool in patients with speciﬁc CPS, demonstrating a high speciﬁcity and low FPR. | Accepted February 13, 2025 Published March 26, 2025 JCO Precis Oncol 9:e2400642 © 2025 by American Society of Clinical Oncology Licensed under the Creative Commons Attribution 4.0 License INTRODUCTION Individuals with cancer predisposition syndromes (CPS) have signiﬁcantly increased cancer incidence and mortality. It is challenging to develop effective protocols for surveillance in these high-risk patients, which is complicated by multisite risk, incomplete penetrance, and variable expressivity. Still, surveillance holds great potential to improve patient outcomes by diagnosing cancer at an early and curable stage, and currently is the least invasive option these individuals have in managing their cancer risk.1 Whole-body magnetic resonance imaging (WB-MRI) has emerged as a recommended imaging procedure for surveillance of patients with certain cancer predisposition conditions, as it provides whole-body imaging in a single sitting without exposure to ionizing radiation, enabling efﬁcient assessment of different organs for multifocal diseases.2,3 There are three CPS that have established guidelines on the use of WB-MRI—Li-Fraumeni syndrome (LFS), constitutional mismatch repair deﬁciency syndrome (CMMRD), and [ascopubs.org/journal/po](ascopubs.org/journal/po | 1)[ |](ascopubs.org/journal/po | 1)[ 1](ascopubs.org/journal/po | 1) Que et al CONTEXT Key Objective What is the diagnostic performance of whole-body magnetic resonance imaging (WB-MRI)

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What is the main objective of this study?

To determine the diagnostic performance of whole-body magnetic resonance imaging (WB-MRI) as a screening tool for Li-Fraumeni syndrome, constitutional mismatch repair deficiency syndrome, hereditary paraganglioma-pheochromocytoma syndrome, and other CPS.

How was the study conducted?

A retrospective review was performed for patients with CPS seen at the Cancer Genetics Service in National Cancer Center Singapore who underwent WB-MRI screening from 2014 to 2024.

What diagnostic performance did WB-MRI show in the cohort?

Among 59 patients who underwent WB-MRI, sensitivity was 64% and specificity was 92%, with a false-positive rate of 8% and a false-negative rate of 36%.

Sep 24, 2026

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