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 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.

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.

scholarly journals Whole-body magnetic resonance imaging of Li-Fraumeni syndrome patients: observations from a two rounds screening of Brazilian patients

2018 ◽  
Vol 18 (1) ◽  
Author(s):  
Daniele Paixão ◽  
Marcos Duarte Guimarães ◽  
Kelvin César de Andrade ◽  
Amanda França Nóbrega ◽  
Rubens Chojniak ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Whole Body ◽  
Resonance Imaging ◽  
Li Fraumeni Syndrome ◽  
Body Magnetic Resonance Imaging ◽  
Li Fraumeni

Screening with whole-body magnetic resonance imaging in pediatric subjects with Li-Fraumeni syndrome: A single institution pilot study

2017 ◽  
Vol 65 (2) ◽  
pp. e26822 ◽  
Author(s):  
Allison F. O'Neill ◽  
Stephan D. Voss ◽  
Jyothi P. Jagannathan ◽  
Junne Kamihara ◽  
Callie Nibecker ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Pilot Study ◽  
Magnetic Resonance ◽  
Whole Body ◽  
Resonance Imaging ◽  
Single Institution ◽  
Li Fraumeni Syndrome ◽  
Body Magnetic Resonance Imaging ◽  
Li Fraumeni

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.

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.

Evaluation of rapid whole-body magnetic resonance as screening strategy for early cancer detection in 57 Brazilian Li-Fraumeni syndrome patients.

2015 ◽  
Vol 33 (15_suppl) ◽  
pp. 1534-1534
Author(s):  
Daniele Paixao ◽  
Marcos Duarte Guimaraes ◽  
Amanda Franca Nobrega ◽  
David Malkin ◽  
Rubens Chojniak ◽  
...  
Keyword(s):  
Magnetic Resonance ◽  
Cancer Detection ◽  
Early Cancer ◽  
Screening Strategy ◽  
Early Cancer Detection ◽  
Whole Body ◽  
Li Fraumeni Syndrome ◽  
Li Fraumeni

scholarly journals Correlation between NF1 genotype and imaging phenotype on whole-body MRI

Neurology ◽  
2020 ◽  
Vol 94 (24) ◽  
pp. e2521-e2531 ◽  
Author(s):  
Yunpeng Liu ◽  
Justin T. Jordan ◽  
Miriam A. Bredella ◽  
Serkan Erdin ◽  
James A. Walker ◽  
...  
Keyword(s):  
Image Analysis ◽  
Tumor Imaging ◽  
Germline Mutations ◽  
Image Feature ◽  
Whole Body ◽  
Imaging Features ◽  
Mixed Effect ◽  
Whole Body Mri ◽  
Targeted Next Generation Sequencing ◽  
Patient Groups

ObjectiveTo investigate the genotype–phenotype correlation between neurofibromatosis 1 (NF1) germline mutations and imaging features of neurofibromas on whole-body MRI (WBMRI) by using radiomics image analysis techniques.Materials and methodsTwenty-nine patients with NF1 who had known germline mutations determined by targeted next-generation sequencing were selected from a previous WBMRI study using coronal short tau inversion recovery sequence. Each tumor was segmented in WBMRI and a set of 59 imaging features was calculated using our in-house volumetric image analysis platform, 3DQI. A radiomics heatmap of 59 imaging features was analyzed to investigate the per-tumor and per-patient associations between the imaging features and mutation domains and mutation types. Linear mixed-effect models and one-way analysis of variance tests were performed to assess the similarity of tumor imaging features within mutation groups, between mutation groups, and between randomly selected groups.ResultsA total of 218 neurofibromas (97 discrete neurofibromas and 121 plexiform neurofibromas) were identified in 19 of the 29 patients. The unsupervised hierarchical clustering in heatmap analysis revealed 6 major image feature patterns that were significantly correlated with gene mutation domains and types with strong to very strong associations of genotype–phenotype correlations in both per-tumor and per-patient studies (p < 0.05, Cramer V > 0.5), whereas tumor size and locations showed no correlations with imaging features (p = 0.79 and p = 0.42, respectively). The statistical analyses revealed that the number of significantly different features (SDFs) within mutation groups were significantly lower than those between mutation groups (mutation domains: 10.9 ± 9.5% vs 31.9 ± 23.8% and mutation types: 31.8 ± 30.7% vs 52.6 ± 29.3%). The first and second quartile p values of within-patient groups were more than 2 times higher than those between-patient groups. However, the numbers of SDFs between randomly selected groups were much lower (approximately 5.2%).ConclusionThis preliminary study identified the NF1 radiogenomics linkage between NF1 causative mutations and MRI radiomic features, i.e., the correlation between NF1 genotype and imaging phenotype on WBMRI.

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