Whole-Body MRI Surveillance—Baseline Findings in the Swedish Multicentre Hereditary TP53-Related Cancer Syndrome Study (SWEP53)

Abstract

A surveillance strategy of the heritable TP53-related cancer syndrome (hTP53rc), commonly referred to as the Li–Fraumeni syndrome (LFS), is studied in a prospective observational nationwide multi-centre study in Sweden (SWEP53). The aim of this sub-study is to evaluate whole-body MRI (WB-MRI) regarding the rate of malignant, indeterminate, and benign imaging findings and the associated further workup generated by the baseline examination. Individuals with hTP53rc were enrolled in a surveillance program including annual whole-body MRI (WB-MRI), brain-MRI, and in female carriers, dedicated breast MRI. A total of 68 adults ≥18 years old have been enrolled to date. Of these, 61 fulfilled the inclusion criteria for the baseline MRI scan. In total, 42 showed a normal scan, while 19 (31%) needed further workup, of whom three individuals (3/19 = 16%) were diagnosed with asymptomatic malignant tumours (thyroid cancer, disseminated upper GI cancer, and liver metastasis from a previous breast cancer). Forty-three participants were women, of whom 21 had performed risk-reducing mastectomy prior to inclusion. The remaining were monitored with breast MRI, and no breast tumours were detected on baseline MRI. WB-MRI has the potential to identify asymptomatic tumours in individuals with hTP53rc syndrome. The challenge is to adequately and efficiently investigate all indeterminate findings. Thus, a multidisciplinary team should be considered in surveillance programs for individuals with hTP53rc syndrome.

Whole‐body MRI surveillance in TP53 carriers is perceived as beneficial with no increase in cancer worry regardless of previous cancer: Data from the Swedish TP53 Study

“…Baseline demographic characteristics are shown in Table 1, with further details in Table S1. After undergoing a baseline WB‐MRI, three asymptomatic participants were diagnosed with cancer 12 …”

“…In the Swedish TP53 Study (SWEP53), adult carriers are offered routine surveillance with WB‐MRI including MRI of the breasts and brain. Our first publication indicated 30 imaging findings in 19 of 61 participants (31%) of which 21 lesions in 16 individuals (84%) were incidental and nonmalignant 12 . Until now, studies evaluating the psychosocial impact of surveillance with WB‐MRI have been reported from Australia, 13 Great Britain, 14 Germany, 15 and the United States, 16,17 including 17–49 study participants.…”

“…Our first publication indicated 30 imaging findings in 19 of 61 participants (31%) of which 21 lesions in 16 individuals (84%) were incidental and nonmalignant. 12 Until now, studies evaluating the psychosocial impact of surveillance with WB-MRI have been reported from Australia, 13 Great Britain, 14 Germany, 15 and the United States, 16,17 including 17-49 study participants. In general, more studies evaluating the psychosocial aspects are needed.…”

Li–Fraumeni Syndrome: Mutation of TP53 Is a Biomarker of Hereditary Predisposition to Tumor: New Insights and Advances in the Treatment

“…Therefore, as a rule, the types of tumors are evaluated from time to time and the therapies used for classic cancer patients are adopted. Several studies have shown that active surveillance of LFS patients is significantly associated with improved survival by tracking presymptomatic malignancies compared to LFS patients who were diagnosed with cancer because the symptoms arose [ 15 , 94 , 95 , 96 , 97 ]. Overall, these studies propose clinical surveillance protocols using physical examination and frequent biochemical and imaging studies for instance consisting of whole-body magnetic resonance imaging (MRI), specific MRI of brain breast, mammography, abdominal and pelvic ultrasound, and colonoscopy.…”

Whole-Body MRI Screening for Carriers of Germline TP53 Mutations—A Systematic Review and Meta-Analysis

“…Several global studies, mostly conducted without gadolinium-based contrast agents (GBCAs), have validated the effectiveness of WBMRI, showing an overall estimated detection rate of 7% for new and localised primary cancers during the initial screen [ 8 , 12 , 13 ]. Given the potential long-term retention of GBCAs in various organs, it is recommended that caution is exercised when administering multiple GBCAs to germline TP53 variant carriers.…”