Adrenocortical carcinoma: Pediatric aspects (Review)

Area of Science:

• Endocrinology
• Pediatric Oncology
• Cancer Genetics

Background:

• Adrenocortical carcinoma (ACC) is a rare, aggressive orphan malignancy affecting all ages.
• It presents with significant hormonal imbalances in 80-90% of cases, including Cushing syndrome and precocious puberty.
• Pediatric ACC accounts for 0.2% of childhood cancers, with specific genetic anomalies noted in 50-80% of cases.

Purpose of the Study:

• To summarize the epidemiology, clinical presentation, genetic factors, and current therapeutic approaches for adrenocortical carcinoma.
• To highlight the prognostic indicators and survival rates associated with this rare cancer.
• To emphasize the need for improved molecular markers and multidisciplinary care, particularly in pediatric cases.

Main Methods:

• Review of existing literature on adrenocortical carcinoma epidemiology, genetics, and treatment.
• Analysis of clinical presentation, hormonal imbalances, and genetic/epigenetic anomalies.
• Evaluation of prognostic factors such as Ki-67, Weiss score, and tumor size.

Main Results:

• ACC has a low incidence but high aggressiveness, with female predominance and frequent hormonal dysfunction.
• Key genetic/epigenetic anomalies include TP53 mutations, IGF alterations, and hereditary syndromes (Li-Fraumeni, MEN1).
• Adrenalectomy is the primary treatment; prognostic factors include Weiss score, tumor size, and Ki-67 levels. 5-year survival is 55%.

Conclusions:

• Adrenocortical carcinoma requires prompt, multidisciplinary intervention, especially in children.
• Complete surgical resection offers the best prognosis, with genetic testing recommended pre-operatively.
• Further research into molecular markers is essential for improved understanding, treatment protocols, and prognostic accuracy.