ACTH-producing thymus tumor caused ectopic Cushing’s in woman
Case effectively managed with 'many currently available tools,' per report
A woman in her early 30s who developed severe ectopic Cushing’s syndrome due to a small thymus tumor was effectively managed with medications to reduce cortisol levels followed by surgery, according to a case report from Poland.
After the initial surgery, the patient experienced two recurrences of Cushing’s within seven years, due to tumor spreading to other tissues, which is known as metastasis. Both relapses were effectively managed with surgery, with rapid improvement, the researchers reported.
Noting that tumors like the one this woman had “are very rare and the data about this particular [tumor type] is scarce,” the team highlighted that this case shows that they can affect “patients … younger than previously considered.”
“The strength of our report is the presentation of a thymic [neuroendocrine, or hormone-producing, tumor] with metastasis to the breast, diagnosed and treated with many currently available tools and with a long period of follow-up,” the researchers wrote.
“Lifelong follow-up should be performed despite complete remission after surgery,” the team added.
The case was described in a study titled “Case Report: Thymic neuroendocrine tumor with metastasis to the breast causing ectopic Cushing’s syndrome,” which was published in the journal Frontiers in Oncology.
PET scan revealed small tumor in woman’s thymus gland
Cushing’s syndrome includes several health conditions marked by hypercortisolism, or excessively high levels of the hormone cortisol. One of its most common types, Cushing’s disease, is caused by tumors in the brain’s pituitary gland that lead to the excessive production of adrenocorticotropic hormone, or ACTH, which stimulates cortisol production.
Less frequently, Cushing’s is caused by ACTH-producing tumors found in other parts of the body. This is known as ectopic Cushing’s syndrome.
Here, the researchers from Wroclaw Medical University reported the case of a woman in her early 30s, with no relevant medical history, who was admitted to the hospital with signs of Cushing’s syndrome. Among her symptoms were weight gain, high blood pressure, skin changes, and infrequent menstrual periods.
During a physical exam, she was found to have acne, facial swelling and redness, fat buildup between the shoulder blades and around the abdomen, and red stretch marks on the abdomen. The woman also had mild hirsutism, or the excessive growth of body hair.
Laboratory analyses revealed she had high levels of cortisol in the blood and urine, as well as high ACTH and elevated blood sugar levels. Conversely, her blood potassium levels were low.
ACTH and cortisol blood levels failed to decrease in response to a high-dose dexamethasone test, consistent with a diagnosis of ectopic ACTH-dependent Cushing’s.
Initial imaging studies, including CT scans of the chest, abdomen, and pelvis, and a pituitary gland MRI scan, did not reveal the disease’s cause. However, a PET scan led to the identification of a small tumor in the thymus gland.
“Our patient had typical [neuroendocrine tumor] with small dimensions and localized disease at the time of diagnosis,” the researchers wrote. “Despite this, we observed aggressive Cushing’s syndrome with a short duration of symptoms and life-threatening hypokalemia,” or low potassium levels.
Patient reports her symptoms ‘diminished very quickly’ after surgery
The woman was initially treated with ketoconazole, a steroid production inhibitor, before the tumor was surgically removed. After the surgery, the patient’s cortisol levels decreased and all of her symptoms resolved.
Five years after the initial surgery, the woman experienced a recurrence of Cushing’s symptoms.
A PET scan then revealed the presence of a mass in her right breast. The tumor was surgically removed, with a normalization of cortisol levels. Further analysis confirmed it was a metastasis of the original thymus tumor.
Our case proves that thymic with [ectopic Cushing’s] might present in young patients with … severe, life-threatening hypercortisolism despite the small size of the primary lesion.
After two years, she experienced another relapse, with significant mental symptoms, including anxiety, severe mood changes, and concentration difficulties. At this point, clinicians started treatment with Isturisa (osilodrostat), often used in patients for whom surgery did not completely resolve disease symptoms.
Imaging tests revealed the presence of metastatic lesions in several organs. All of these lesions were surgically removed, which normalized her cortisol levels. The patient remained on imaging scans every six months to monitor disease recurrence.
“Our case proves that thymic [tumors with ectopic Cushing’s] might present in young patients with … severe, life-threatening hypercortisolism despite the small size of the primary lesion,” the researchers wrote.
In a patient’s perspective section of the report, the woman noted that, “after operations [following] the relapses, the symptoms diminished very quickly, especially the most difficult ones.”
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