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

Omran, Meis ; Tham, Emma ; Brandberg, Yvonne ; Ahlström, Håkan ; Lundgren, Claudia ; Paulsson-Karlsson, Ylva ; Kuchinskaya, Ekaterina ; Silander, Gustav ; Rosén, Anna and Persson, Fredrik , et al. (2022) In Cancers 14(2).
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... (More)

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.

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type
Contribution to journal
publication status
published
subject
keywords
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
in
Cancers
volume
14
issue
2
article number
380
publisher
MDPI AG
external identifiers
  • pmid:35053544
  • scopus:85122885429
ISSN
2072-6694
DOI
10.3390/cancers14020380
language
English
LU publication?
yes
id
0b9ee29a-5966-4a90-aed7-c1c55d49d01d
date added to LUP
2022-02-28 14:46:05
date last changed
2025-03-02 16:32:51
@article{0b9ee29a-5966-4a90-aed7-c1c55d49d01d,
  abstract     = {{<p>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.</p>}},
  author       = {{Omran, Meis and Tham, Emma and Brandberg, Yvonne and Ahlström, Håkan and Lundgren, Claudia and Paulsson-Karlsson, Ylva and Kuchinskaya, Ekaterina and Silander, Gustav and Rosén, Anna and Persson, Fredrik and Leonhardt, Henrik and Stenmark-Askmalm, Marie and Berg, Johanna and van Westen, Danielle and Bajalica-Lagercrantz, Svetlana and Blomqvist, Lennart}},
  issn         = {{2072-6694}},
  keywords     = {{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}},
  language     = {{eng}},
  number       = {{2}},
  publisher    = {{MDPI AG}},
  series       = {{Cancers}},
  title        = {{Whole-Body MRI Surveillance—Baseline Findings in the Swedish Multicentre Hereditary TP53-Related Cancer Syndrome Study (SWEP53)}},
  url          = {{http://dx.doi.org/10.3390/cancers14020380}},
  doi          = {{10.3390/cancers14020380}},
  volume       = {{14}},
  year         = {{2022}},
}