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

Cancers ◽  
2022 ◽  
Vol 14 (2) ◽  
pp. 380
Author(s):  
Meis Omran ◽  
Emma Tham ◽  
Yvonne Brandberg ◽  
Håkan Ahlström ◽  
Claudia Lundgren ◽  
...  
Keyword(s):  
Brain Mri ◽  
Breast Mri ◽  
Whole Body ◽  
Surveillance Program ◽  
Malignant Tumours ◽  
Cancer Syndrome ◽  
Surveillance Strategy ◽  
Multi Centre Study ◽  
Whole Body Mri ◽  
Li Fraumeni Syndrome

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.

Li-Fraumeni Syndrome and Whole-Body MRI Screening: Screening Guidelines, Imaging Features, and Impact on Patient Management

2021 ◽  
Vol 216 (1) ◽  
pp. 252-263
Author(s):  
Nikita Consul ◽  
Behrang Amini ◽  
Juan Jose Ibarra-Rovira ◽  
Katherine J. Blair ◽  
Tanya W. Moseley ◽  
...  
Keyword(s):  
Patient Management ◽  
Whole Body ◽  
Imaging Features ◽  
Whole Body Mri ◽  
Li Fraumeni Syndrome ◽  
Screening Guidelines ◽  
Li Fraumeni

scholarly journals Diagnostic accuracy of whole-body MRI/DWI image fusion for detection of malignant tumours: a comparison with PET/CT

2010 ◽  
Vol 21 (2) ◽  
pp. 246-255 ◽  
Author(s):  
Michael A. Fischer ◽  
Daniel Nanz ◽  
Thomas Hany ◽  
Caecilia S. Reiner ◽  
Paul Stolzmann ◽  
...  
Keyword(s):  
Diagnostic Accuracy ◽  
Image Fusion ◽  
Whole Body ◽  
Malignant Tumours ◽  
Whole Body Mri ◽  
Pet Ct

scholarly journals Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY)

2019 ◽  
Vol 57 (4) ◽  
pp. 226-236 ◽  
Author(s):  
Elizabeth K Bancroft ◽  
Sibel Saya ◽  
Emma Brown ◽  
Sarah Thomas ◽  
Natalie Taylor ◽  
...  
Keyword(s):  
Psychosocial Functioning ◽  
Psychosocial Outcomes ◽  
Whole Body ◽  
Controlled Study ◽  
Cancer Worry ◽  
Whole Body Mri ◽  
Li Fraumeni Syndrome ◽  
Time Points ◽  
Clinically Significant ◽  
Risk Of Cancer

BackgroundGermline TP53 gene pathogenic variants (pv) cause a very high lifetime risk of developing cancer, almost 100% for women and 75% for men. In the UK, annual MRI breast screening is recommended for female TP53 pv carriers. The SIGNIFY study (Magnetic Resonance Imaging screening in Li Fraumeni syndrome: An exploratory whole body MRI) study reported outcomes of whole-body MRI (WB-MRI) in a cohort of 44 TP53 pv carriers and 44 matched population controls. The results supported the use of a baseline WB-MRI screen in all adult TP53 pv carriers. Here we report the acceptability of WB-MRI screening and effects on psychosocial functioning and health-related quality of life in the short and medium terms.MethodsPsychosocial and other assessments were carried out at study enrolment, immediately before MRI, before and after MRI results, and at 12, 26 and 52 weeks’ follow-up.ResultsWB-MRI was found to be acceptable with high levels of satisfaction and low levels of psychological morbidity throughout. Although their mean levels of cancer worry were not high, carriers had significantly more cancer worry at most time-points than controls. They also reported significantly more clinically significant intrusive and avoidant thoughts about cancer than controls at all time-points. There were no clinically significant adverse psychosocial outcomes in either carriers with a history of cancer or in those requiring further investigations.ConclusionWB-MRI screening can be implemented in TP53 pv carriers without adverse psychosocial outcomes in the short and medium terms. A previous cancer diagnosis may predict a better psychosocial outcome. Some carriers seriously underestimate their risk of cancer. Carriers of pv should have access to a clinician to help them develop adaptive strategies to cope with cancer-related concerns and respond to clinically significant depression and/or anxiety.

Evaluation of whole body MRI for early detection of cancers in subjects with germ-line TP53 mutation (Li-Fraumeni syndrome).

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. TPS1607-TPS1607
Author(s):  
Olivier Caron ◽  
Thierry Frébourg ◽  
Emmanuelle Bourbouloux ◽  
Valérie Bonadona ◽  
Véronique Mari ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Germline Mutation ◽  
Complete Blood Count ◽  
Brain Mri ◽  
Whole Body ◽  
X Rays ◽  
Abdominal Sonography ◽  
Whole Body Mri ◽  
Li Fraumeni

TPS1607 Background: The TP53 germline mutation carriers have a huge increase of cancer risk. The cancer spectrum is particularly broad (breast, sarcoma, brain tumour, leukaemia, …). The clinical management of these people is challenging, mainly concerning sarcoma screening. Moreover, some data let speculate that normal cells of these carriers are particular hypersensitive to X-rays. Among major breakthroughs in radiology, whole-body MRI (WBMRI) may contribute to TP53 carriers surveillance. In order to update the french guidelines on Li-Fraumeni families management, the LIFSCREEN study ( NCT01464086 ) was designed to assess its usefulness in France. Methods: This open, randomized, multicentric trial will evaluate the efficacy and tolerability of two screening schemes, avoiding irradiating exams. In the standard arm, people undergo clinical exam, abdominal sonography, brain MRI, Complete Blood Count, breast MRI, breast sonography, depending on the age) at inclusion, Month 12, Month 24, and a study visit at Month 36. In the experimental arm, people included undergo the same scheme, completed by a diffusion WBMRI at M0, M12, M24. At each round, quality of life and psychological impact will be assessed by self-questionnaires and semi-structured qualitative interviews. In an ancillary study, serums will be collected at each step. Subjects meeting these criteria are eligible: any TP53 germline mutation carrier, with or without personal cancer history, aged >5 and <71. A hundred people will be enrolled and randomized. The primary objective is to assess the efficiency of each scheme, evaluated by the cancer incidence at 3 years. Notably, sensitivity and specificity of each exam will be studied. As a secondary objective, the acceptability of each scheme will be assessed by quality of life / psychological questionnaires interpretation (SF-36, HADS, TAS 20, CBCL, CDI, R-CMAS, depending on subject’s age). Recruitment began in December, 2011. To date, 32 patients have been enrolled on 8 french study sites. The study will soon be implemented in another 12 sites. This academic study is, to our knowledge, the first randomized trial on this topic, and supported by the french “Ligue contre le cancer.” Clinical trial information: NCT01464086.

Whole-body MRI of paediatric malignant tumours: comparison with conventional oncological imaging methods

2005 ◽  
Vol 35 (8) ◽  
pp. 766-773 ◽  
Author(s):  
Hyun Woo Goo ◽  
Seong Hoon Choi ◽  
Thad Ghim ◽  
Hyung Nam Moon ◽  
Jong Jin Seo
Keyword(s):  
Whole Body ◽  
Malignant Tumours ◽  
Whole Body Mri ◽  
Imaging Methods ◽  
Oncological Imaging

scholarly journals Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes

2020 ◽  
Vol 28 (10) ◽  
pp. 1379-1386 ◽  
Author(s):  
Thierry Frebourg ◽  
◽  
Svetlana Bajalica Lagercrantz ◽  
Carla Oliveira ◽  
Rita Magenheim ◽  
...  
Keyword(s):  
Clinical Examination ◽  
Brain Mri ◽  
Soft Tissue Sarcomas ◽  
Abdominal Ultrasound ◽  
Dominant Negative ◽  
Whole Body ◽  
Breast Cancers ◽  
Li Fraumeni Syndrome ◽  
Cancer Predisposition Syndrome ◽  
Li Fraumeni

Abstract Fifty years after the recognition of the Li–Fraumeni syndrome (LFS), our perception of cancers related to germline alterations of TP53 has drastically changed: (i) germline TP53 alterations are often identified among children with cancers, in particular soft-tissue sarcomas, adrenocortical carcinomas, central nervous system tumours, or among adult females with early breast cancers, without familial history. This justifies the expansion of the LFS concept to a wider cancer predisposition syndrome designated heritable TP53-related cancer (hTP53rc) syndrome; (ii) the interpretation of germline TP53 variants remains challenging and should integrate epidemiological, phenotypical, bioinformatics prediction, and functional data; (iii) the penetrance of germline disease-causing TP53 variants is variable, depending both on the type of variant (dominant-negative variants being associated with a higher cancer risk) and on modifying factors; (iv) whole-body MRI (WBMRI) allows early detection of tumours in variant carriers and (v) in cancer patients with germline disease-causing TP53 variants, radiotherapy, and conventional genotoxic chemotherapy contribute to the development of subsequent primary tumours. It is critical to perform TP53 testing before the initiation of treatment in order to avoid in carriers, if possible, radiotherapy and genotoxic chemotherapies. In children, the recommendations are to perform clinical examination and abdominal ultrasound every 6 months, annual WBMRI and brain MRI from the first year of life, if the TP53 variant is known to be associated with childhood cancers. In adults, the surveillance should include every year clinical examination, WBMRI, breast MRI in females from 20 until 65 years and brain MRI until 50 years.

scholarly journals The Role of 68Ga-DOTA-Octreotate PET/CT in Follow-Up of SDH-Associated Pheochromocytoma and Paraganglioma

2019 ◽  
Vol 104 (11) ◽  
pp. 5091-5099 ◽  
Author(s):  
Grace Kong ◽  
Tess Schenberg ◽  
Christopher J Yates ◽  
Alison Trainer ◽  
Nirupa Sachithanandan ◽  
...  
Keyword(s):  
Residual Disease ◽  
Whole Body ◽  
Surveillance Program ◽  
Conventional Imaging ◽  
Mri Imaging ◽  
Surveillance Strategy ◽  
Mutation Carriers ◽  
Increased Risk ◽  
Pet Ct

Abstract Purpose Germline succinate dehydrogenase (SDHx) mutation carriers, especially SDHB, are at increased risk for malignancy and require life-long surveillance. Current guidelines recommend periodic whole-body MRI imaging. We assessed the incremental value of 68Ga-DOTA-octreotate (GaTate) positron emission tomography (PET)/CT compared with conventional imaging in such patients. Methods SDHx mutation carriers who had GaTate PET/CT were retrospectively reviewed. Detection of lesions were compared with MRI or CT on a per-patient and per-lesion basis. Proof of lesions were based on histopathology or clinical/imaging follow-up. Results Twenty consecutive patients (median age, 46 years; 10 males) were reviewed. Fourteen patients had SDHB, four, SDHD, one SDHC, and one SDHA mutation. Fifteen had prior surgery and/or radiotherapy. Indications for PET/CT were as follows: 7 patients for surveillance for previously treated disease, 9 residual disease, 2 asymptomatic mutation carriers, and 2 for elevated catecholamines. Median time between modalities was 1.5 months. GaTate PET/CT had higher sensitivity and specificity than conventional imaging. On a per-patient basis: PET/CT sensitivity 100%, specificity 100%; MRI/CT 85% and 50%. Per-lesion basis: PET/CT sensitivity 100%, specificity 75%; MRI/CT 80% and 25%. PET/CT correctly identified additional small nodal and osseous lesions. MRI/CT had more false-positive findings. Change of management resulted in 40% (8/20 patients): 3 received localized treatment instead of observation, 1 changed to observation given extra disease detected, 4 with metastases had radionuclide therapy. Conclusions GaTate PET/CT provided incremental diagnostic information with consequent management impact in SDHx-pheochromocytoma and paraganglioma. Incorporating this modality as part of a surveillance program seems prudent. Further research is needed to define the optimal surveillance strategy including use of MRI.

scholarly journals UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants

2020 ◽  
pp. jmedgenet-2020-106876 ◽  
Author(s):  
Helen Hanson ◽  
Angela F Brady ◽  
Gillian Crawford ◽  
Rosalind A Eeles ◽  
Sarah Gibson ◽  
...  
Keyword(s):  
Patient Group ◽  
Cancer Genetics ◽  
Wide Spectrum ◽  
Brain Mri ◽  
Breast Mri ◽  
Whole Body ◽  
Clinical Genetics ◽  
Pathogenic Variants ◽  
Surveillance Protocol ◽  
The Uk

Constitutional pathogenic variants in TP53 are associated with Li-Fraumeni syndrome or the more recently described heritable TP53-related cancer syndrome and are associated with increased lifetime risks of a wide spectrum of cancers. Due to the broad tumour spectrum, surveillance for this patient group has been limited. To date, the only recommendation in the UK has been for annual breast MRI in women; however, more recently, a more intensive surveillance protocol including whole-body MRI (WB-MRI) has been recommended by International Expert Groups. To address the gap in surveillance for this patient group in the UK, the UK Cancer Genetics Group facilitated a 1-day consensus meeting to discuss a protocol for the UK. Using a preworkshop survey followed by structured discussion on the day, we achieved consensus for a UK surveillance protocol for TP53 carriers to be adopted by UK Clinical Genetics services. The key recommendations are for annual WB-MRI and dedicated brain MRI from birth, annual breast MRI from 20 years in women and three-four monthly abdominal ultrasound in children along with review in a dedicated clinic.

scholarly journals Difficulties of Management of Multiple Synchronous Bone Tumors in Li-Fraumeni Syndrome

2019 ◽  
Vol 2019 ◽  
pp. 1-6
Author(s):  
Marine Huby ◽  
Laurence Brugières ◽  
Eric Mascard ◽  
Nathalie Gaspar ◽  
Stéphanie Pannier ◽  
...  
Keyword(s):  
Malignant Tumors ◽  
Childhood Cancer Survivors ◽  
Whole Body ◽  
Whole Body Imaging ◽  
Inherited Disease ◽  
Whole Body Mri ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni ◽  
Rare Situation

Li-Fraumeni syndrome is a rare inherited disease characterized by the early onset of multiple primary malignant tumors. Sarcomas account for more than 30% of all malignant tumors occurring at pediatric age. Furthermore, it was shown that the rates of second cancer were higher in childhood cancer survivors. We report the case of a patient with Li-Fraumeni syndrome who was referred to us with three synchronous skeletal tumors. This unique situation led to difficulties for the medical team regarding the diagnosis of malignancy and the surgical treatment to propose. The discovery of multiple lesions in the extension assessment underlines the usefulness of whole-body imaging for the follow-up of patients with germline TP53 mutations. Most recent guidelines now recommend annual whole-body MRI for screening for cancer patients carrying germline TP53. With this report, we aim to share our experience with this rare situation in order to improve care about these specific cases.

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