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Whole-Body MRI Surveillance: Baseline Findings in the Swedish Multicentre Hereditary TP53-Related Cancer Syndrome Study (SWEP53)
Department of Oncology-Pathology, Karolinska Institute, Stockholm, Sweden; Cancer Theme, Karolinska University Hospital Solna, Stockholm, Sweden.
Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden; Department of Clinical Genetics, Cancer Genetic Unit, Karolinska University Hospital Solna, Stockholm, Sweden.
Department of Oncology-Pathology, Karolinska Institute, Stockholm, Sweden.
Department of Surgical Sciences, Section of Radiology, Uppsala University, Uppsala, Sweden.
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2022 (Engelska)Ingår i: Cancers, ISSN 2072-6694, Vol. 14, nr 2, artikel-id 380Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

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.

Ort, förlag, år, upplaga, sidor
MDPI, 2022. Vol. 14, nr 2, artikel-id 380
Nyckelord [en]
Cancer, Cancer prevention, Clinically actionable TP53 variant, Germline TP53, Hereditary breast cancer, Hereditary cancer syndrome, HTP53rc syndrome, Li–Fraumeni, MRI screening, Surveillance program, Whole-body MRI
Nationell ämneskategori
Cancer och onkologi Radiologi och bildbehandling
Identifikatorer
URN: urn:nbn:se:umu:diva-191742DOI: 10.3390/cancers14020380ISI: 000758542200001PubMedID: 35053544Scopus ID: 2-s2.0-85122885429OAI: oai:DiVA.org:umu-191742DiVA, id: diva2:1631393
Forskningsfinansiär
Konung Gustaf V:s Jubileumsfond, 201052Region Stockholm, SLL20180046Region Stockholm, SLL500306Cancerfonden, 2016/775Barncancerfonden, TJ2018-0054Barncancerfonden, TJ2021- 0125Tillgänglig från: 2022-01-24 Skapad: 2022-01-24 Senast uppdaterad: 2023-05-04Bibliografiskt granskad

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Silander, GustavRosén, Anna

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