Adrenocortical carcinoma in the face of Li-Fraumeni syndrome - a case report Opis przypadku

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Opublikowane: wrz 1, 2023
DOI: https://doi.org/10.24292/01.OR.132220723
Słowa kluczowe:
adrenocortical carcinoma, Li-Fraumeni syndrome, TP53 mutation

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Tomasz Maroszczuk
Students' Scientific Circle of Pathomorphology, Medical Faculty, University of Warmia and Mazury in Olsztyn
https://orcid.org/0000-0002-2924-8646
Zuzanna Smuniewska
Students' Scientific Circle of Pathomorphology, Medical Faculty, University of Warmia and Mazury in Olsztyn, 10-719 Olsztyn
https://orcid.org/0000-0002-3649-0617
Jan Kapała
Students' Scientific Circle of Pathomorphology, Medical Faculty, University of Warmia and Mazury in Olsztyn, 10-719 Olsztyn
https://orcid.org/0000-0003-4019-851X
Krystian Golon
Department of Pathomorphology and Forensic Medicine, Collegium Medicum, University of Warmia and Mazury in Olsztyn, 10-719 Olsztyn, Poland
https://orcid.org/0000-0001-6094-5215

Abstrakt

Adrenocortical carcinoma (ACC) is a rare malignancy with a dismal prognosis. ACCs are caused by a cumulation of sporadic mutations, however, some inherited mutations may predispose to ACC. This paper presents a case of a 12-years-old child diagnosed with TP53 mutation, preceded by ACC diagnosis.

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1.
Maroszczuk T, Smuniewska Z, Kapała J, Golon K. Adrenocortical carcinoma in the face of Li-Fraumeni syndrome - a case report. OncoReview [Internet]. 1 wrzesień 2023 [cytowane 21 listopad 2024];13(3(51):71-4. Dostępne na: https://journalsmededu.pl/index.php/OncoReview/article/view/2735
Numer
Tom 13 Nr 3(51) (2023)
Dział
CARDIO-ONCOLOGY
Creative Commons License

Utwór dostępny jest na licencji Creative Commons Uznanie autorstwa – Użycie niekomercyjne 4.0 Międzynarodowe.

Copyright: © Medical Education sp. z o.o. This is an Open Access article distributed under the terms of the Attribution-NonCommercial 4.0 International (CC BY-NC 4.0). License (https://creativecommons.org/licenses/by-nc/4.0/), allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.

Address reprint requests to: Medical Education, Marcin Kuźma (marcin.kuzma@mededu.pl)

Bibliografia

1. Mansmann G, Lau J, Balk E et al. The clinically inapparent adrenal mass: update in diagnosis and management. Endocr Rev. 2004; 25(2): 309-340. http://doi.org/10.1210/er.2002-0031.
2. Fassnacht M, Kroiss M, Allolio B. Update in adrenocortical carcinoma. J Clin Endocrinol Metab. 2013; 98(12): 4551-64. http://doi.org/10.1210/jc.2013-3020.
3. McAteer JP, Huaco JA, Gow KW. Predictors of survival in pediatric adrenocortical carcinoma: a Surveillance, Epidemiology, and End Results (SEER) program study. J Pediatr Surg. 2013; 48(5): 1025-31. http://doi.org/10.1016/j.jpedsurg.2013.02.017.
4. Kerkhofs TM, Verhoeven RH, Van der Zwan JM et al. Adrenocortical carcinoma: a population-based study on incidence and survival in the Netherlands since 1993. Eur J Cancer. 2013; 49(11): 2579-86. http://doi.org/10.1016/j.ejca.2013.02.034.
5. Gargallo P, Yáñez Y, Segura V et al. Li-Fraumeni syndrome heterogeneity. Clin Transl Oncol. 2020; 22(7): 978-88. http://doi.org/10.1007/s12094-019-02236-2.
6. Jouinot A, Bertherat J. Diseases Predisposing to Adrenocortical Malignancy (Li-Fraumeni Syndrome, Beckwith Wiedemann Syndrome, and Carney Complex). Exp Suppl. 2019; 111: 149-69. http://doi.org/10.1007/978-3-030-25905-1_9.
7. Chompret A, Brugières L, Ronsin M et al. P53 germline mutations in childhood cancers and cancer risk for carrier individuals. Br J Cancer. 2000; 82(12): 1932-7. http://doi.org/10.1054/bjoc.2000.1167.
8. Kumamoto T, Yamazaki F, Nakano Y et al. Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1. Int J Clin Oncol. 2021; 26(12): 2161-78. http://doi.org/10.1007/s10147-021-02011-w. [correction in: Int J Clin Oncol. 2022 Jan;27(1):262-263]
9. Fassnacht M, Allolio B. Clinical management of adrenocortical carcinoma. Best Pract Res Clin Endocrinol Metab. 2009; 23(2): 273-89. http://doi.org/10.1016/j.beem.2008.10.008.
10. Else T, Kim AC, Sabolch A et al. Adrenocortical carcinoma. Endocr Rev. 2014; 35(2): 282-326. http://doi.org/10.1210/er.2013-1029.
11. Fassnacht M, Libé R, Kroiss M et al. Adrenocortical carcinoma: a clinician’s update. Nat Rev Endocrinol. 2011; 7(6): 323-35. http://doi.org/10.1038/nrendo.2010.235.
12. Ishikura K, Takamura T, Takeshita Y et al. Cushing’s syndrome and big IGF-II associated hypoglycaemia in a patient with adrenocortical carcinoma. BMJ Case Rep. 2010; 2010: bcr07.2009.2100. http://doi.org/10.1136/bcr.07.2009.2100.
13. Libé R. Adrenocortical carcinoma (ACC): diagnosis, prognosis, and treatment. Front Cell Dev Biol. 2015; 3: 45. http://doi.org/10.3389/fcell.2015.00045.
14.Hubertus J, Boxberger N, Redlich A et al. Surgical aspects in the treatment of adrenocortical carcinomas in children: data of the GPOH-MET 97 trial. Klin Padiatr. 2012; 224(3): 143-7. http://doi.org/10.1055/s-0032-1304627.
15. Redlich A, Boxberger N, Strugala D et al. Systemic treatment of adrenocortical carcinoma in children: data from the German GPOH-MET 97 trial. Klin Padiatr. 2012; 224(6): 366-71. http://doi.org/10.1055/s-0032-1327579.