How Adrenocortical Carcinoma Is Diagnosed

Adrenocortical carcinoma (ACC) is a rare cancer that starts in the outer layer of the adrenal glands, which are small glands located on top of each kidney. Diagnosing ACC involves a series of tests to identify the tumor, determine if it is cancerous, and check if it has spread. This process often includes physical exams, blood and urine tests, and various imaging scans.

What is How Adrenocortical Carcinoma Is Diagnosed?

Diagnosing adrenocortical carcinoma (ACC) involves a detailed process to find a tumor in the adrenal gland and confirm if it is cancerous. Because ACC is rare and its symptoms can be vague, doctors use a combination of physical exams, laboratory tests to check hormone levels, and advanced imaging techniques to pinpoint the tumor and assess its characteristics. The goal is to accurately identify ACC early for the best possible treatment outcomes.

Adrenocortical carcinoma (ACC) is a very rare and aggressive cancer that develops in the adrenal cortex, the outer part of the adrenal glands. These glands, located above your kidneys, produce hormones vital for many body functions, such as managing stress, blood pressure, and metabolism. When ACC forms, it can either produce too many hormones or grow large enough to press on nearby organs, leading to various symptoms. The diagnostic journey for ACC typically begins when a person experiences new or unusual symptoms, or when an adrenal mass is found incidentally during imaging for another condition. Due to the rarity of ACC, it often requires a team of specialists, including endocrinologists (doctors specializing in hormones), oncologists (cancer specialists), and surgeons, to make an accurate diagnosis. Early and accurate diagnosis is crucial for ACC because it can grow quickly and spread to other parts of the body. The diagnostic steps aim to differentiate ACC from more common, non-cancerous adrenal tumors, which is a key challenge given their similar appearance on some initial tests.

Symptoms

Symptoms of adrenocortical carcinoma (ACC) can vary widely, depending on whether the tumor produces excess hormones or if its size causes pressure on nearby organs. Common signs include unexplained weight changes, new hair growth, high blood pressure (hypertension), muscle weakness, and abdominal pain or fullness. Because these symptoms can be vague, they often lead to initial investigations for other conditions.

Many people with ACC experience symptoms because the tumor produces too much of certain hormones. For example, an excess of cortisol can lead to Cushing's syndrome, causing symptoms like weight gain in the face and trunk, thin skin, easy bruising, and muscle weakness. An overproduction of androgens (male hormones) can cause virilization, leading to increased facial and body hair growth, acne, and a deepening voice in women. Other hormonal imbalances can also occur. Too much aldosterone can cause high blood pressure (hypertension) and low potassium levels, leading to fatigue and muscle cramps. Excess estrogen, though less common, can cause breast enlargement (gynecomastia) in men or irregular menstrual periods in women. These hormonal symptoms often prompt a doctor's visit. Beyond hormonal effects, a growing ACC tumor can cause symptoms simply by its size. As the tumor gets larger, it might press on nearby organs, leading to abdominal pain, a feeling of fullness, or a noticeable lump in the abdomen. Some people may experience unexplained weight loss, fatigue, or a general feeling of being unwell, especially if the cancer has started to spread.

Causes & risk factors

The exact cause of adrenocortical carcinoma (ACC) is often unknown, and most cases occur without a clear reason. However, certain rare genetic conditions can increase a person's risk of developing ACC. These inherited syndromes include Li-Fraumeni syndrome, Beckwith-Wiedemann syndrome, and Multiple Endocrine Neoplasia type 1 (MEN1). Having one of these syndromes means a higher chance, but not a certainty, of developing ACC.

For the majority of people diagnosed with ACC, there is no identifiable cause or clear risk factor. This means the cancer develops spontaneously, without a known genetic predisposition or environmental trigger. Researchers continue to study why these rare cancers form, but currently, most cases are considered sporadic. However, a small percentage of ACC cases are linked to inherited genetic syndromes. Li-Fraumeni syndrome, for instance, is a rare inherited condition that significantly increases the risk of several types of cancer, including ACC, at a young age. This syndrome is caused by a mutation in the TP53 gene, which normally helps prevent tumor growth. Other genetic syndromes associated with an increased risk of ACC include Beckwith-Wiedemann syndrome, which is a growth disorder, and Multiple Endocrine Neoplasia type 1 (MEN1), a condition that causes tumors in several endocrine glands. If there is a family history of ACC or these related syndromes, genetic counseling and testing may be recommended to assess individual risk.

How it's diagnosed

Diagnosing adrenocortical carcinoma (ACC) involves a multi-step approach that combines physical exams, laboratory tests, and imaging studies. Doctors will first assess your symptoms and medical history. Then, blood and urine tests measure hormone levels, while imaging scans like CT, MRI, and PET help locate the tumor and determine its size and if it has spread. A biopsy, though sometimes risky for ACC, may be performed in specific situations.

The diagnostic process usually begins with a thorough physical examination and a review of your medical history and symptoms. Your doctor will look for signs of hormone excess, such as changes in body fat distribution, skin, or hair growth. They will also check for any abdominal masses or tenderness. Laboratory tests are crucial for assessing hormone production. This typically includes blood tests to measure levels of cortisol, androgens (like DHEA-S and testosterone), estrogens, and aldosterone. A 24-hour urine collection test is often performed to measure the amount of free cortisol and other hormone breakdown products excreted over a day. Abnormal hormone levels can strongly suggest an adrenal tumor, and sometimes indicate if it's likely to be cancerous. Imaging studies are essential to visualize the adrenal glands and any tumors. A computed tomography (CT) scan of the abdomen and pelvis is often the first imaging test, providing detailed cross-sectional images. Magnetic resonance imaging (MRI) may be used for further detail, especially if the CT scan is unclear or to assess spread. Positron emission tomography (PET) scans can help identify if the cancer has spread to other parts of the body. These scans help doctors determine the tumor's size, shape, and characteristics, which can help differentiate ACC from benign (non-cancerous) adrenal masses. A biopsy, which involves taking a small tissue sample for examination under a microscope, is generally avoided for suspected ACC before surgery if imaging strongly suggests cancer. This is because there is a small risk that a biopsy could cause the cancer cells to spread. However, a biopsy might be considered if the diagnosis is uncertain after imaging and hormone tests, or if the tumor has spread to other areas and a tissue sample is needed to confirm the diagnosis before starting systemic treatments.

Treatment options

Treatment for adrenocortical carcinoma (ACC) primarily involves surgery to remove the tumor, especially if the cancer is localized. For more advanced or aggressive cases, additional treatments may include chemotherapy, radiation therapy, or targeted therapies. The specific treatment plan is highly individualized, depending on the cancer's stage, size, whether it has spread, and the patient's overall health, and is determined by a team of specialists.

Surgery is the main treatment for ACC, particularly when the cancer is confined to the adrenal gland and can be completely removed. This procedure, called an adrenalectomy, aims to take out the entire tumor along with the affected adrenal gland and sometimes nearby lymph nodes. Successful surgery offers the best chance for a cure, especially if the tumor is small and has not spread. If the cancer has spread or cannot be fully removed by surgery, other treatments become necessary. Chemotherapy uses powerful drugs to kill cancer cells throughout the body. Mitotane is a specific chemotherapy drug often used for ACC, sometimes even after surgery, to help prevent the cancer from returning. Other chemotherapy regimens may be used for advanced disease. Radiation therapy uses high-energy rays to destroy cancer cells or shrink tumors. It may be used after surgery to kill any remaining cancer cells or to manage symptoms if the cancer has spread to bones or other areas. Targeted therapies, which focus on specific weaknesses in cancer cells, are also being explored and used in some cases, offering a more precise approach to treatment.

Recovery & outlook

The recovery and outlook for adrenocortical carcinoma (ACC) vary significantly based on the cancer's stage at diagnosis, the tumor's size, and whether it has spread. Early diagnosis and complete surgical removal offer the best prognosis. After treatment, regular follow-up appointments, including imaging and hormone tests, are crucial to monitor for recurrence. While ACC can be aggressive, ongoing research continues to improve treatment options and outcomes.

Recovery from ACC treatment, especially surgery, involves a period of healing and rehabilitation. Patients may need to take hormone replacement medications if the remaining adrenal gland cannot produce enough hormones, or if both adrenal glands were removed. Regular follow-up care is essential, typically involving physical exams, blood tests to check hormone levels, and imaging scans (like CT or MRI) to monitor for any signs of cancer recurrence or spread. The outlook for ACC is highly dependent on the stage of the cancer when it is diagnosed. Cancers that are small and confined to the adrenal gland (Stage I or II) and can be completely removed surgically generally have a better prognosis than those that have spread to nearby tissues or distant organs (Stage III or IV). The size of the tumor at diagnosis is also a significant factor, with smaller tumors often associated with better outcomes. Because ACC is a rare and often aggressive cancer, it can recur even after successful initial treatment. This is why long-term surveillance is so important. While the journey can be challenging, advances in surgical techniques, chemotherapy, and targeted therapies are continuously improving the management and outlook for individuals with ACC. Support groups and specialized cancer centers can also provide valuable resources and care.

When to see a doctor

You should see a doctor if you experience new or unexplained symptoms that could suggest an adrenal problem or cancer. These include rapid, unexplained weight gain or loss, new or excessive hair growth (especially in women), unexplained muscle weakness, persistent high blood pressure, or new abdominal pain or a noticeable lump. Early evaluation of such symptoms is important for timely diagnosis and treatment.

It's important to pay attention to your body and seek medical advice for any persistent or concerning changes. While many symptoms of ACC can be subtle or mimic other conditions, certain clusters of symptoms should prompt a visit to your healthcare provider. For example, if you notice significant changes in your body shape, such as unexplained weight gain around your midsection or a rounded face, combined with thin skin and easy bruising, these could be signs of Cushing's syndrome. For women, new or worsening symptoms like increased facial or body hair (hirsutism), acne that doesn't respond to typical treatments, or a deepening voice should be evaluated. These can indicate an excess of male hormones. Similarly, men experiencing breast enlargement (gynecomastia) without another clear cause should also consult a doctor. Any new or persistent abdominal discomfort, a feeling of fullness, or the discovery of a lump in your abdomen warrants medical attention. While these symptoms can be caused by many less serious conditions, it's always best to have them checked by a healthcare professional to rule out serious issues like adrenocortical carcinoma. Don't hesitate to discuss your concerns with your doctor, especially if you have a family history of adrenal tumors or genetic syndromes.

Sources

• MedlinePlus — How Adrenocortical Carcinoma Is Diagnosed
• Mayo Clinic — How Adrenocortical Carcinoma Is Diagnosed
• Cochrane Library — How Adrenocortical Carcinoma Is Diagnosed