A Rare Paediatric Adrenocortical Carcinoma with Aggressive Clinical Course
DOI:
https://doi.org/10.15605/jafes.041.01.5167Keywords:
paediatrics, Cushing Syndrome, adrenocortical carcinoma, antineoplastic agents, hormonal, mitotane, ketoconazoleAbstract
Adrenocortical carcinomas are among the rarest and most aggressive paediatric endocrine neoplasms. We report a case of a functional adrenocortical carcinoma in a 6-year and 7-month-old female who initially presented with hypertensive encephalopathy, later progressing to overt Cushing syndrome with refractory hypertension. Given the presence of distant metastases, the patient was commenced on neoadjuvant chemotherapy and mitotane. Genetic testing for TP53 to evaluate Li-Fraumeni syndrome was declined. Despite initial response to the treatment, the disease remained refractory, and the patient succumbed after seven months of therapy.
Downloads
References
NCCR*Explorer Application. In: Incidence of Adrenocortical Tumors. 2024. National Cancer Institute: NCCR Cancer Statistics.
Michalkiewicz E, Sandrini R, Figueiredo B, et al. Clinical and outcome characteristics of children with adrenocortical tumors: A report from the International Pediatric Adrenocortical Tumor Registry. J Clin Oncol. 2004;22(5):838-45 https://pubmed.ncbi.nlm.nih.gov/14990639 https://doi.org/10.1200/JCO.2004.08.085
Ribeiro RC, Figueiredo B. Childhood adrenocortical tumours. Eur J Cancer. 2004;40(8):1117-26. https://pubmed.ncbi.nlm.nih.gov/15110875 https://doi.org/10.1016/j.ejca.2004.01.031
Wasserman JD, Novokmet A, Eichler-Jonsson C, et al. Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: A children's oncology group study. J Clin Oncol. 2015;33(6):602-9. https://pubmed.ncbi.nlm.nih.gov/25584008 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4517369 https://doi.org/10.1200/JCO.2013.52.6863
Custódio G, Parise GA, Kiesel Filho N, et al. Impact of neonatal screening and surveillance for the TP53 R337H mutation on early detection of childhood adrenocortical tumors. J Clin Oncol. 2013;31(20):2619-26. https://pubmed.ncbi.nlm.nih.gov/23733769
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3808236
https://doi.org/10.1200/JCO.2012.46.3711
Costa TEJ, Gerber VKQ, Ibañez HC, et al. Penetrance of the TP53 R337H Mutation and Pediatric Adrenocortical Carcinoma Incidence Associated with Environmental Influences in a 12-Year Observational Cohort in Southern Brazil. Cancers (Basel). 2019;11(11):1804. https://pubmed.ncbi.nlm.nih.gov/31744167 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6896071 https://doi.org/10.3390/cancers11111804
Cecchetto G, Ganarin A, Bien E, et al. Outcome and prognostic factors in high-risk childhood adrenocortical carcinomas: A report from the European Cooperative Study Group on Pediatric Rare Tumors (EXPeRT). Pediatr Blood Cancer. 2017;64(6). https://pubmed.ncbi.nlm.nih.gov/27957799 https://doi.org/10.1002/pbc.26368
Rodriguez-Galindo C, Krailo MD, Pinto EM, et al. Treatment of pediatric adrenocortical carcinoma with surgery, retroperitoneal lymph node dissection, and chemotherapy: The Children's Oncology Group ARAR0332 protocol. J Clin Oncol. 2021;39(22):2463-73. https://pubmed.ncbi.nlm.nih.gov/33822640 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8462560
https://doi.org/10.1200/JCO.20.02871
Gupta N, Rivera M, Novotny P, Rodriguez V, Bancos I, Lteif A. Adrenocortical carcinoma in children: A clinicopathological analysis of 41 patients at the Mayo Clinic from 1950 to 2017. Horm Res Paediatr. 2018;90(1):8-18. https://pubmed.ncbi.nlm.nih.gov/29804118
https://doi.org/10.1159/000488855
Street ME, Weber A, Camacho-Hübner C, Perry LA, Brain CE, Cotterill AM, Savage MO. Girls with virilisation in childhood: A diagnostic protocol for investigation. J Clin Pathol. 1997;50(5):379-83. https://pubmed.ncbi.nlm.nih.gov/9215119
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC499938 https://doi.org/10.1136/jcp.50.5.379
Wieneke JA, Thompson LD, Heffess CS. Adrenal cortical neoplasms in the pediatric population: A clinicopathologic and immunophenotypic analysis of 83 patients. Am J Surg Pathol. 2003;27(7):867-81. https://pubmed.ncbi.nlm.nih.gov/12826878
https://doi.org/10.1097/00000478-200307000-00001
Castinetti F, Guignat L, Giraud P, et al. Ketoconazole in Cushing's disease: Is it worth a try? J Clin Endocrinol Metab. 2014;99(5):1623-30. https://pubmed.ncbi.nlm.nih.gov/24471573 https://doi.org/10.1210/jc.2013-3628
Le Bihan C, Moutou C, Brugières L, Feunteun J, Bonaïti-Pellié C. ARCAD: A method for estimating age-dependent disease risk associated with mutation carrier status from family data. Genet Epidemiol. 1995;12(1):13-25. https://pubmed.ncbi.nlm.nih.gov/7713397
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2026 Kah Yin Lim, Pian Pian Tee
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
The full license text is available at: http://creativecommons.org/licenses/by-nc/3.0/legalcode.
To request permission to translate, reproduce, download, or use articles or images for commercial reuse or business purposes from the Journal of the ASEAN Federation of Endocrine Societies (JAFES), kindly complete the Permission Request for Use of Copyrighted Material Form and email jafes@asia.com or jafes.editor@gmail.com.
A written agreement will be issued to the requester once permission has been granted.
