Surveillance recommendations for patients with germline TP53 mutations

Ballinger, Mandy L.; Thomas, David M.

doi:10.1097/cco.0000000000000200

Cited by 35 publications

(24 citation statements)

References 47 publications

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“…Internationally, more intensive screening programmes are starting to become employed [12, 13] and, in particular, are being explored in the research setting [10, 14–16]. Several studies are employing WB MRI [14, 17], others FDG-PET/CT [15, 16], and, most commonly, combinations of several physical examination, imaging and biochemical screening modalities [10, 14, 17].…”

Section: Introductionmentioning

confidence: 99%

Baseline results from the UK SIGNIFY study: a whole-body MRI screening study in TP53 mutation carriers and matched controls

et al. 2017

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In the United Kingdom, current screening guidelines for TP53 germline mutation carriers solely recommends annual breast MRI, despite the wide spectrum of malignancies typically seen in this group. This study sought to investigate the role of one-off non-contrast whole-body MRI (WB MRI) in the screening of asymptomatic TP53 mutation carriers. 44 TP53 mutation carriers and 44 population controls were recruited. Scans were read by radiologists blinded to participant carrier status. The incidence of malignancies diagnosed in TP53 mutation carriers against general population controls was calculated. The incidences of non-malignant relevant disease and irrelevant disease were measured, as well as the number of investigations required to determine relevance of findings. In TP53 mutation carriers, 6 of 44 (13.6, 95% CI 5.2–27.4%) participants were diagnosed with cancer during the study, all of which would be considered life threatening if untreated. Two were found to have two primary cancers. Two participants with cancer had abnormalities on the MRI which were initially thought to be benign (a pericardial cyst and a uterine fibroid) but transpired to be sarcomas. No controls were diagnosed with cancer. Fifteen carriers (34.1, 95% CI 20.5–49.9%) and seven controls (15.9, 95% CI 6.7–30.1%) underwent further investigations following the WB MRI for abnormalities that transpired to be benign (p = 0.049). The cancer detection rate in this group justifies a minimum baseline non-contrast WB MRI in germline TP53 mutation carriers. This should be adopted into national guidelines for management of adult TP53 mutation carriers in addition to the current practice of contrast enhanced breast MRI imaging.Electronic supplementary materialThe online version of this article (doi:10.1007/s10689-017-9965-1) contains supplementary material, which is available to authorized users.

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Section: Introductionmentioning

confidence: 99%

Baseline results from the UK SIGNIFY study: a whole-body MRI screening study in TP53 mutation carriers and matched controls

et al. 2017

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“…For example, certain pathogenic germline TP53 variants lead to Li-Fraumeni syndrome, a hereditary cancer syndrome with increased risk for a wide spectrum of TP53-associated malignancies, including, but not limited to, breast cancer, sarcomas, brain tumors, and leukemias. 93,94 Management guidelines for TP53 mutation carriers have been established (eviQ Cancer Treatments Online Risk management for Li-Fraumeni syndrome, http://www.eviq.org.au, last accessed July 5, 2016; National Comprehensive Cancer Network Guidelinesd Genetic Screening, http://www.nccn.org/professionals/ physician_gls/pdf/genetics_screening.pdf, last accessed July 6, 2016, registration required). In the absence of paired normal sequencing data to differentiate somatic variants from constitutional/inherited variants, clinical judgment should be used when reporting potential germline pathogenic variants identified in cancer tissue because many germline pathogenic variants (including those in TP53, PTEN, and BRCA1/2) may also occur as acquired somatic variants in cancer.…”

Section: Somatic Variant Interpretation/reportingmentioning

confidence: 99%

Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer

Datto

Duncavage

et al. 2017

The Journal of Molecular Diagnostics

1,490

954

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Widespread clinical laboratory implementation of next-generation sequencingebased cancer testing has highlighted the importance and potential benefits of standardizing the interpretation and reporting of molecular results among laboratories. A multidisciplinary working group tasked to assess the current status of next-generation sequencingebased cancer testing and establish standardized consensus classification, annotation, interpretation, and reporting conventions for somatic sequence variants was

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“…Currently, there are multiple guidelines for screening individuals with TP53 mutations, including the Toronto Protocol (Table ) and guidelines proposed by the National Comprehensive Cancer Network (NCCN) and American Association for Cancer Research. For sarcoma detection, annual abdominal magnetic resonance imagings (MRIs) are recommended.…”

Section: Genetic Syndromesmentioning

confidence: 99%

Screening populations at high risk for soft tissue sarcoma and surveillance following soft tissue sarcoma resection

Witt

Baldini

Raut

2019

Journal of Surgical Oncology

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Soft tissue sarcomas (STS) are a rare and diverse group of tumors that affect both adult and pediatric populations. This review discusses current screening recommendations for populations at increased risk for STS, including those with genetic predispositions. We also review surveillance guidelines for those at risk for recurrence following curative-intent surgery. K E Y W O R D S diagnostic screening programs, hereditary neoplastic syndromes, sarcoma, surveillance guidelines, surveillance imaging

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Surveillance recommendations for patients with germline TP53 mutations

Abstract: Surveillance protocols for TP53 mutation carriers have the potential to improve outcomes in individuals and families. Further research is needed to guide the development of an effective and comprehensive surveillance schedule.

Cited by 35 publications

References 47 publications

Baseline results from the UK SIGNIFY study: a whole-body MRI screening study in TP53 mutation carriers and matched controls

Baseline results from the UK SIGNIFY study: a whole-body MRI screening study in TP53 mutation carriers and matched controls

Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer

Screening populations at high risk for soft tissue sarcoma and surveillance following soft tissue sarcoma resection

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