The phenotypic landscape of the TP53 p.Arg337His mutation in pediatric cancers: a scoping review protocol
DOI:
https://doi.org/10.33448/rsd-v14i11.49701Keywords:
Genetic predisposition to disease, Neoplasms, Child, Li-Fraumeni syndrome, Genetics, Adolescent.Abstract
The TP53 p.Arg337His is a founder mutation that exists at a very high frequency in Southern and Southeastern Brazil. Adrenocortical and plexus choroides carcinomas are highly associated with this variant. The present scoping review protocol aimed to map health-related literature searching for pediatric cancer related to the TP53 p.Arg337His. Methods: A scoping review protocol is presented in this article, conducted adhering to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews (PRISMA-ScR) guideline. Six databases, an electronic repository, and additional sources were searched using keywords and text words. The review team consists of three independent screeners. Two screeners will do the initial title and abstract screening for all studies retrieved by the search strategy and then the full text screening phase. Reference lists of included studies will be screened, and data will be independently extracted by the review team. Results will be analyzed qualitatively and quantitatively. Ethics and dissemination: Ethical approval is not necessary, since the study does not involve human participants. Findings will be disseminated through publication at scientific journals and conferences.
References
Achatz, M. I. W., Olivier, M., Calvez, F. Le, Martel-Planche, G., Lopes, A., Rossi, B. M., Ashton-Prolla, P., Giugliani, R., Palmero, E. I., Vargas, F. R., Rocha, J. C. C. Da, Vettore, A. L., & Hainaut, P. (2007). The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. Cancer Letters, 245(1–2), 96-102. https://doi.org/10.1016/j.canlet.2005.12.039
Achatz, M. I., & Zambetti, G. P. (2016). The inherited p53 mutation in the Brazilian population. Cold Spring Harbor Perspectives in Medicine, 6(12). https://doi.org/10.1101/cshperspect.a026195
Aromataris E, Lockwood C, Porritt K, Pilla B, Jordan Z. (2024). JBI Manual for Evidence Synthesis. JBI. Available from: https://synthesismanual.jbi.global. https://doi.org/10.46658/JBIMES-24-01.
Cohen, J. (1960). A coefficient of agreement for nominal scales. Educational and Psychological Measurement. Educational and Psychological Measurement, 20(1). https://doi.org/10.1177/001316446002000104.
Custódio, G., Parise, G. A., Kaesel Filho, N., Komechen, H., Sabbaga, C. C., Rosati, R., Grisa, L., Parise, I. Z. S., Pianovski, M. A. D., Fiori, C. M. C. M., Ledesma, J. A., Barbosa, J. R. S., Figueiredo, F. R. O., Sade, E. R., Ibañez, H., Arram, S. B. I., Stinghen, S. T., Mengarelli, L. R., Figueiredo, M. M. O., … Figueiredo, B. C. (2013). Impact of neonatal screening and surveillance for the TP53 R337H mutation on early detection of childhood adrenocortical tumors. Journal of Clinical Oncology, 31(20), 2619-2626. https://doi.org/10.1200/JCO.2012.46.3711
Custodio, G., Taques, G. R., Figueiredo, B. C., Gugelmin, E. S., Figueiredo, M. M. O., Watanabe, F., Pontarolo, R., Lalli, E., & Torres, L. F. B. (2011). Increased incidence of choroid plexus carcinoma due to the germline TP53 R337H mutation in southern Brazil. PLoS ONE, 6(3), e18015. https://doi.org/10.1371/journal.pone.0018015
Foster, E. D., & Deardorff, A. (2017). Open Science Framework (OSF). Journal of the Medical Library Association, 105(2), 203-206. https://doi.org/10.5195/jmla.2017.88
Frebourg, T., Bajalica Lagercrantz, S., Oliveira, C., Magenheim, R., Evans, D. G., Hoogerbrugge, N., Ligtenberg, M., Kets, M., Oostenbrink, R., Sijmons, R., Woodward, E., Tischkowitz, M., Maher, E., Ferner, R. E., Aretz, S., Spier, I., Steinke-Lange, V., Holinski-Feder, E., Schröck, E., … Hietala, M. (2020). Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes. European Journal of Human Genetics, 28(10), 1379-1386. https://doi.org/10.1038/s41431-020-0638-4
Jeffers, J. R., Pinto, E. M., Rehg, J. E., Clay, M. R., Wang, J., Neale, G., Heath, R. J., Lozano, G., Lalli, E., Figueiredo, B. C., Pappo, A. S., Rodriguez-Galindo, C., Chen, W., Pounds, S., Ribeiro, R. C., & Zambetti, G. P. (2021). The common germline TP53-R337H mutation is hypomorphic and confers incomplete penetrance and late tumor onset in a mouse model A C. Cancer Research, 81(9). https://doi.org/10.1158/0008-5472.CAN-20-1750
Kratz, C. P., Achatz, M. I., Brugieres, L., Frebourg, T., Garber, J. E., Greer, M. L. C., Hansford, J. R., Janeway, K. A., Kohlmann, W. K., McGee, R., Mullighan, C. G., Onel, K., Pajtler, K. W., Pfister, S. M., Savage, S. A., Schiffman, J. D., Schneider, K. A., Strong, L. C., Evans, D. G. R., … Malkin, D. (2017). Cancer screening recommendations for individuals with Li-Fraumeni syndrome. Clinical Cancer Research, 23(11), e38-e45. https://doi.org/10.1158/1078-0432.CCR-17-0408
Kratz, C. P., Freycon, C., Maxwell, K. N., Nichols, K. E., Schiffman, J. D., Evans, D. G., Achatz, M. I., Savage, S. A., Weitzel, J. N., Garber, J. E., Hainaut, P., & Malkin, D. (2021). Analysis of the Li-Fraumeni Spectrum Based on an International Germline TP53 Variant Data Set. JAMA Oncology, 7(12), 1800-1805. https://doi.org/10.1001/jamaoncol.2021.4398
Magalhães, A. T.; Borges, K. S.; Sousa, G. R.; Brandalise, S. R.; Seidinger, A. L.; Scrideli, C. A.; Oba-Shinjo, S. M.; Yunes J. A.; Tone, L. G. (2019). The TP53 p.Arg337His mutation is uncommon in a Brazilian cohort of pediatric patients diagnosed with ependymoma. Neurological Sciences, 41(3), 691–694, nov. 2019. DOI: https://doi.org/10.1007/s10072-019-04112-x.
Mattos, S. M., Cestari, V. R. F., & Moreira, T. M. M. (2023). Scoping protocol review: PRISMA-ScR guide refinement. Rev Enferm UFPI, 12(1), e3062. https://doi.org/10.26694/reufpi.v12i1.3062
McGowan, J., Sampson, M., Salzwedel, D. M., Cogo, E., Foerster, V., & Lefebvre, C. (2016). PRESS Peer Review of Electronic Search Strategies: 2015 Guideline Statement. Journal of Clinical Epidemiology, 75(1), 40-6. https://doi.org/10.1016/j.jclinepi.2016.01.021
Ouzzani, M., Hammady, H., Fedorowicz, Z., & Elmagarmid, A. (2016). Rayyan-a web and mobile app for systematic reviews. Systematic Reviews, 5(1). https://doi.org/10.1186/s13643-016-0384-4
Page, M. J., McKenzie, J. E., Bossuyt, P. M., Boutron, I., Hoffmann, T. C., Mulrow, C. D., Shamseer, L., Tetzlaff, J. M., Akl, E. A., Brennan, S. E., Chou, R., Glanville, J., Grimshaw, J. M., Hróbjartsson, A., Lalu, M. M., Li, T., Loder, E. W., Mayo-Wilson, E., McDonald, S., … Moher, D. (2021). The PRISMA 2020 statement: An updated guideline for reporting systematic reviews. The BMJ 372(71). https://doi.org/10.1136/bmj.n71
Pinto, E. M., Fridman, C., Figueiredo, B. C., Salvador, H., Teixeira, M. R., Pinto, C., Pinheiro, M., Kratz, C. P., Lavarino, C., Legal, E. A. M. F., Le, A., Kelly, G., Koeppe, E., Stoffel, E. M., Breen, K., Hahner, S., Heinze, B., Techavichit, P., Krause, A., … Zambetti, G. P. (2024). Multiple TP53 p.Arg337His haplotypes and implications for tumor susceptibility. Human Genetics and Genomics Advances, 5(1), 100244. https://doi.org/10.1016/j.xhgg.2023.100244.
Pinto, E. M., & Zambetti, G. P. (2020). What 20 years of research has taught us about the TP53 p.Arg337His mutation. Cancer. 126(21), 4619-4805 https://doi.org/10.1002/cncr.33143
Souza, M. A. R. de, Wall, M. L., Thuler, A. C. de M. C., Lowen, I. M. V., & Peres, A. M. (2018). O uso do software IRAMUTEQ na análise de dados em pesquisas qualitativas. Revista da Escola de Enfermagem da USP, 52, e03353. https://doi.org/10.1590/s1980-220x2017015003353
Seidinger, A. L.; Forte, F. P.; Mastellaro, M. J.; Cardinalli, I. A.; Zambaldi, L. G.; Aguiar, S. S.; Yunes, J. A. (2015). Occurrence of Neuroblastoma among TP53 p.Arg337His Carriers. PLOS ONE, 10(10), p. e0140356. https://doi.org/10.1371/journal.pone.0140356.
Seidinger, A. L.; Mastellaro, M. J.; Fortes, F. P.; Assumpção, J. G.; Cardinalli, I. A.; Ganazza, M. A.; Ribeiro, R. C. R.; Brandalise, S. R.; Aguiar, S. S. (2010). Association of the highly prevalent TP53 R337H mutation with pediatric choroid plexus carcinoma and osteosarcoma in Southeast Brazil. Cancer, 117(10), 2228–2235. https://doi.org/10.1002/cncr.25826.
Villani, A., Davidson, S., Kanwar, N., Lo, W. W., Li, Y., Cohen-Gogo, S., Fuligni, F., Edward, L. M., Light, N., Layeghifard, M., Harripaul, R., Waldman, L., Gallinger, B., Comitani, F., Brunga, L., Hayes, R., Anderson, N. D., Ramani, A. K., Yuki, K. E., … Shlien, A. (2023). The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations. Nature Cancer, 4(2), 203-221. https://doi.org/10.1038/s43018-022-00474-y
Villani, A., Tabori, U., Schiffman, J., Shlien, A., Beyene, J., Druker, H., Novokmet, A., Finlay, J., & Malkin, D. (2011). Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: A prospective observational study. The Lancet Oncology, 12(6), 559-567. https://doi.org/10.1016/S1470-2045(11)70119-X
World Health Organization (2021). Cancer in children. World Health Organization. https://www.who.int/news-room/fact-sheets/detail/cancer-in-children
Downloads
Published
Issue
Section
License
Copyright (c) 2025 Gabriel Lanes Cypriano, Camila Belo Tavares Ferreira, Anna Cláudia Evangelista dos Santos
This work is licensed under a Creative Commons Attribution 4.0 International License.
Authors who publish with this journal agree to the following terms:
1) Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
2) Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
3) Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.
