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

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Tomasz Maroszczuk
Zuzanna Smuniewska
Jan Kapała
Krystian Golon

Abstract

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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How to Cite
1.
Maroszczuk T, Smuniewska Z, Kapała J, Golon K. Adrenocortical carcinoma in the face of Li-Fraumeni syndrome - a case report. OncoReview [Internet]. 2023Sep.1 [cited 2024Dec.12];13(3(51):71-4. Available from: https://journalsmededu.pl/index.php/OncoReview/article/view/2735
Section
CARDIO-ONCOLOGY

References

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.