Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.

Eyes front and ears open. Class is now in session.

The rare disease that we will be learning about today is:

Adrenocortical Carcinoma

What is Adrenocortical Carcinoma?

• Adrenocortical carcinoma is a cancer of the adrenal cortex, which is the steroid-hormone producing region of the adrenal gland.
• It is noted as an aggressive form of cancer
• Tumors of the adrenal gland such as this can sometimes trigger hormonal syndromes such as virilization (the abnormal development of adult masculine features in young males or females), feminization (the development of adult female features), Cushing’s syndrome, and Conn syndrome
• At diagnosis, adrenocortical carcinoma has often metastasized to nearby sites or other organs
• Treatment of this cancer can be difficult

How Do You Get It?

• The cause of adrenocortical carcinoma isn’t really known. Know environmental risk factors for this cancer have been identified
• However, people living with the rare disorder Li-Fraumeni syndrome, which is linked to a mutation affecting the gene TP53, are at a higher risk
• This is a rare cancer, with an incidence of one or two per million people each year
• Cases tend to cluster at two age ranges: children under five and adults between 30-40 years old.

What Are The Symptoms?

• Symptoms tend to vary in children versus adults
• Common presentations in children include:
  • Virilization
  • Precocious puberty
  • Cushing’s syndrome
  • In general, children are more likely to have ‘functional’ tumors that continue to produce steroid hormones
• Presentations in adults can include
  • Cushing’s syndrome
    • Fatty hump on the neck, muscle wasting, general weight gain, thin, fragile skin, rounded face
  • Virilization
    • Extra body and facial hair, coarsened facial features, enlarged clitoris, halting of menstruation
  • Conn syndrome (less than 10 percent)
    • High blood pressure, hypokalemia (low potassium), headaches
  • Feminization (less than 10 percent)
    • Enlarged breasts, impotence, decreased libido
  • Generally, hormonal syndromes aren’t as common in adults
  • Symptoms of non-functional adrenocortical carcinoma include:
    • Renal vein thrombosis
    • Flank or abdominal pain
    • Varicocele

How Is It Treated?

• The treatment option with the best chance of a cure is to surgically remove the entire tumor. This operation can take place even after the tumor has spread into large blood vessels. The five year survival rate after a successful operation is 50-60 percent.
• Unfortunately, a lot of patients are not candidates for surgery. This may be a result of the fact that adrenocortical carcinoma may not cause symptoms until it has begun to spread, therefore resulting in late diagnosis in many cases.
• Radiation therapy or radiofrequency ablation approaches are often used in patients that are not eligible for surgery.
• Chemotherapy is also used to treat adrenocortical carcinoma. The agent mitotane is typically at the center of most chemo regimens for this cancer. Other commonly used agents include cisplastin, streptozotocin, doxorubicin, and etoposide. A combination of cisplastin, doxorubicin, and etoposide (EDP) plus mitotane appears to be most effective.
• Overall, prognosis for this cancer is rather poor, with a 50 percent five year survival rate. Important factors for prognosis include patient age and stage of the tumor.

Where Can I Learn More???

• Learn more about this disease from the National Organization for Rare Disorders.
• Check out our cornerstone on this disease here.