Adrenocortical Tumors



What is an adrenocortical tumor (ACT)? 

ACTs are a group of tumors originating from the cells of the adrenal cortex – that is the outer layer of the adrenal gland. These tumors occur very rarely in children and adolescents.

Who gets an ACT and why? 

There are two peaks of incidence of ACT in young people, the first in children <4 years of age, the second during adolescence. It is more common in girls. The cause is unknown.

Is there a risk for brothers / sisters to develop the same cancer or other types of cancer?

While ACTs may occur sporadically, there is however, a significant association with the genetic syndromes predisposing to this tumor and other cancers (i.e. Li Fraumeni Syndrome, MEN1, and Beckwith-Wiedemann syndrome.). For this reason, genetic consultation and investigations are recommended for all patients with ACT and their relatives.

Are all ACTs the same? 

ACTs are a group of different tumors. They may be benign (adenomas) or malignant (adrenocortical carcinomas – ACC), but they often present in a similar way clinically. However, ACCs are usually larger than adenomas, grow faster, involve the surrounding organs and may spread, mostly to the lung, liver and bone. The pathological distinction between benign and malignant ACTs is also difficult as they often look very similar under the microscope. Therefore, an experienced pathologist or even two consultants may be involved in the diagnostics of your child. As mentioned above, the size of the tumor, or evidence of spread helps to separate out adenomas from ACC.

What are the typical symptoms and signs of ACTs? 

Most ACTs (80-90%) secrete in excess the hormones, which are normally produced by the adrenal cortex (steroids, androgens and aldosterone), so common symptoms may be: virilization (hairiness or hirsutism, premature development of pubic hair), hypertension (high blood pressure), obesity, acne, moon face and skin striae. The latter group of symptoms is called “Cushing syndrome” if they are caused by steroid over secretion. If ACT does not secrete hormones, a palpable abdominal mass may be the only symptom.

Which investigations are necessary to diagnose a child with ACT? 

Two groups of investigations are indicated:

  1. Hormoneslevels of the adrenal cortex- if elevated in blood and/or in urine – they support the diagnosis. They may be also useful during and after the treatment as markers of treatment monitoring and tumor surveillance.
  2. Imaging investigations (abdominal ultrasound, and CT/MRI scans): they evaluate the size of thetumorand the involvement of adjacent organs, to help surgeons to assess if the tumor could be removed. Lung CT scan and bone scan are recommended if an ACC is diagnosed.

Are there different stages of the disease?

The stage is taken into consideration only in case of ACC. Stage is based on the tumor size, the involvement of regional lymph nodes (N), the presence of distant metastases (spread or M) and the results of surgery performed at diagnosis (how much of the tumor has been removed). Also, a postoperative decrease of the hormone levels is important for the stage evaluation.

What is the treatment for ACTs?

Complete resection/removal of the tumor is the mainstay of treatment, and is curative alone for adenoma and localized small ACCs. In patients with large ACCs (also after a complete resection of the tumor), in those with tumor residuals after primary surgery, and in those with tumors that have spread, chemotherapy and /or mitotane are recommended. Experts in multidisciplinary meetings will usually discuss if there is a role for this treatment in your child’s case.

What are the results of treatment? 

Complete removal of the tumor can be curative and outcome is excellent for adenomas. The results of the treatment for ACC depend on the initial extent of disease and if the tumor has been completely removed. The chances of cure vary, being low in those with tumor spread beyond the adrenal gland and much higher in those with localized and completely removed disease.

What research is carried out for ACTs? 

ACTs are rare in childhood: most research studies come from countries where the incidence is much higher (such as Brazil) or from adult series. Studies are evaluating a possible relation with environmental as well as genetic factors. Molecular studies have shown that there are abnormalities of the TP53 gene in about 50% of ACTs, suggesting that ACTs are part of a familial cancer syndrome.

What EXPeRT is doing for children with ACTs?

The EXPeRT group is working for children with ACTs in many ways:

  • Collecting data of children with ACT from all European countries
  • Creating guidelines for diagnosis and treatment of ACT with the goal to optimize the chance of cure for all children
  • Providing advice in difficult cases to the responsible clinician, both at a European level and worldwide
  • Collaborating with other Groups of experts and researchers to increase the knowledge on ACTs to provide multidisciplinary care