||Summary of changes
||Discussed at August 2012 reference committee meeting.
Protocol approved for publication.
||Cancer risk management guidelines surperflous sentence "The nature of the local service will depend on local circumstances" deleted.
Frequency of review discussed at March 6, 2013 reference committee meeting and discussion continued via email:
||Link to AGSA changed to Genetic Alliance Australia.
||Discussed at March 6, 2013 reference committee meeting and the following changes made:
- Summary - wording updated and TP53 testing criterian ACI link added.
- Target group - updated.
- Exclusion criteria - updated.
- Lifetime risk of cancer - references updated.
- Cancer risk management guidelines:
- summary paragraph added
- table of recommendations added.
- Evidence for risk management - wording and references updated.
- Support and information - referral sentence updated.
- References - updated.
||Sentence added to Risk Management template: "The impact of lifestyle on cancer risk should be discussed".
||Sentence added to Risk Management template: "This risk management guideline has been developed for individuals who have NOT been diagnosed with a relevant cancer/tumour. The care of affected individuals should be individualised based on their clinical situation, and the monitoring they need as part of their treatment and post-treatment follow up".
Protocol discussed at cancer genetics reference committee meeting and the following changes made:
- Title - changed to Risk Management for children with a TP53 mutation
- Target group - updated
- Lifetime risk of cancer - updated
- Cancer risk management guidelines - updated
- Evidence for risk management guidelines - updated
- References - updated.
Changed to version 3. Next review in 1 year.
||Transferred to new eviQ website. Version number changed to V.4.
Protocol reviewed at the May 2018 RC meeting and discussions continued over email. Version number increased to V.5 and the following sections were amended:
- Target population - untested individuals <18 years at 50% risk of a known pathogenic mutation in TP53 moved to exclusion criteria
- Lifetime risk of cancer - figures updated as per references.
- Cancer risk management guidelines - Comment re internation consensus guidelines added. Table updated as per references, comment re gadolinium added as footnote to table.
- Evidence - updated as per recommendations
- References - updated
Cancer risk management guidelines section updated outside regular review, to include 'age' to begin surveillance - "from diagnosis++" added to "Consider annual whole body MRI", "Consider annual MRI brain" and "Biannual clinical review...". Table footnote also added - "++Screening MRI should be weighed against the need for a general anaesthetic in young patients."
Version kept at V.5. Review date to be kept the same.
Further References used to develop this protocol:
Olivier, M., D. E. Goldgar, N. Sodha, et al. 2003. "Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype." Cancer Res 63(20):6643-6650
Tinat, J., G. Bougeard, S. Baert-Desurmont, et al. 2009. "2009 version of the Chompret criteria for Li Fraumeni syndrome." J Clin Oncol 27(26):e108-109; author reply e110
Herrmann, L. J., B. Heinze, M. Fassnacht, et al. 2012. "TP53 germline mutations in adult patients with adrenocortical carcinoma." J Clin Endocrinol Metab 97(3):E476-485
Wong, P., S. J. Verselis, J. E. Garber, et al. 2006. "Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome." Gastroenterology 130(1):73-79
NCCN 2008 The NCCN Clinical Practice Guidelines in Oncology™ Li-Fraumeni syndrome (Version 1.2008). © 2009 National Comprehensive Cancer Network, Inc. www.nccn.org
Scott, R. H., L. Walker, O. E. Olsen, et al. 2006. "Surveillance for Wilms tumour in at-risk children: pragmatic recommendations for best practice." Arch Dis Child 91(12):995-999.
Heymann, S., S. Delaloge, A. Rahal, et al. 2010. "Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome." Radiat Oncol 5:104
Hwang, S. J., L. S. Cheng, G. Lozano, et al. 2003. "Lung cancer risk in germline p53 mutation carriers: association between an inherited cancer predisposition, cigarette smoking, and cancer risk." Hum Genet 113(3):238-243
Schulick, R. D. and M. F. Brennan. 1999. "Long-term survival after complete resection and repeat resection in patients with adrenocortical carcinoma." Ann Surg Oncol 6(8):719-726