Adolescent Adrenocortical Carcinoma: A Lesson in Not Missing the Rare Diagnosis

Introduction: Adrenocortical carcinoma (ACC) is a very aggressive childhood cancer with a small reported incidence of 0.2-0.3 new cases per 1 million children per year (1). This is even smaller than the already rare incidence of ACC in adults, which is 0.5-2 cases per million per year (2). Though the most common average age to develop ACC is 55 years old, there is a second population within pediatrics who develop this aggressive disease. Studies have found that childhood ACC differs from adult ACC in a number of ways. One noteworthy example is that pediatric ACC tumors are functional, whereas they are not in adults (3). Importantly, these tumors have also been found to have significant factors that impact the prognosis negatively. The two most significant noted in pediatrics were having metastasis, and falling within the 5-19 age group as opposed to the younger children under 4 years old. Interestingly though, when adjusting for tumor size, only the age of the patient remained significant (4).

Case Description: This case presents on a 12-year-old female who presented first to her primary care physician with multiple Cushingoid-like symptoms including excessive weight gain, increasing leg edema, buffalo hump, significant hypertension, hyperlipidemia, and hirsuitism. Unfortunately, at that time her physician dismissed these symptoms as obesity caused by poor nutrition, and sedentary lifestyle. Months passed before she visited an urgent care and was ultimately admitted to our PICU for workup. On further investigation, CT abdomen and pelvis demonstrated a 7.3 x 6.5 x 6.1cm right adrenal mass. Figures 1 and 2 demonstrate the mass in axial and coronal planes, respectively. Elevated laboratory values included hyperlipidemia, and free testosterone; renin and ACTH were decreased; and aldosterone, cortisol, plasma free metanephrines, and DHEA were within normal limits. These all support what her clinical symptoms were already demonstrating—functional adrenal pathology. Differential included adrenal adenoma, pheochromocytoma, and adrenocortical carcinoma. Ultimately, right radical adrenalectomy with lymph node dissection was completed and resulted in pathology demonstrating a T2NX adrenocortical carcinoma, which was observably functional in nature.

Discussion: Though her case was ultimately caught, with a stage two complete resection without metastasis, she still holds an, at most, 53% 5-year survival rate if no other complications arise (5). This case is an example of why it is so important to always rule out the worst diagnosis, while expecting the most common. Her case demonstrates both rare oncological pathology and an infrequent and dangerous age group.

Conclusion: Though any of her isolated symptoms could lead her physician to believe her diagnosis was early onset T2DM, PCOS, obesity, among many other possibilities, when multiple symptoms in concert point to a potentially life-threatening diagnosis, it should be the standard of care to rule it out, no matter how low the incidence.