MedStar Georgetown University Hospital Washington, DC
Camille H. Boustani, MD, Xinyu Von Buttlar, MD, Jacob Zaemes, MD, Banafsheh Motazedi, MD, Neil Sarna, BA, Duncan Moore, MD; MedStar Georgetown University Hospital, Washington, DC
Introduction: Pancreatic neuroendocrine tumors (NETs) are rare, accounting for less than 1-2 percent of all pancreatic tumors. Ectopic adrenocorticotropic hormone (ACTH) producing tumors are an extremely uncommon subset of pancreatic NETs and carry a poor prognosis. This case report presents a 31-year-old patient with Cushing’s syndrome, secondary to a functioning pancreatic NET with extensive hepatic metastases.
Methods: The patient presented with several months of progressive Cushingoid features including facial plethora, a 15 kg weight gain, muscle weakness, abdominal striae, skin pigmentation, osteoporosis, and new onset Type II Diabetes Mellitus requiring treatment with insulin. The levels of AM serum cortisol, salivary cortisol, free urine cortisol, and 24-hour urinary free cortisol were obtained. The following labs were also ordered: gastrin, testosterone (free/total), ACTH, PTH, TSH, FSH, and LH. Imaging studies included a brain MRI with and without contrast, a CT scan of the chest abdomen pelvis (C/A/P) with IV contrast, and a thyroid ultrasound. On initial presentation, her labs were notable for a low potassium (2.0), elevated glucose (289), low TSH (0.325), and low free T4 (0.69). Endocrinology was consulted for further evaluation of a potential Cushing's syndrome diagnosis due to her concerning history. Additional work up revealed elevated levels of the following: ACTH (621.1), serum AM cortisol ( >150), salivary cortisol ( >15,000), free urine cortisol (5780), and 24-hour urinary free cortisol (13,294). Her labs also showed increased levels of the following: PTH (97.7), gastrin (256), free testosterone (13.4), and total testosterone (152). Levels of FSH (< 0.3) and LH (< 0.1) were suppressed. A brain MRI was ordered due to concern for a central cause of her Cushing’s syndrome, but was normal with no pituitary abnormality. A CT C/A/P with IV contrast was significant for a 5 cm pancreatic mass with extensive hepatic metastases. A percutaneous ultrasound-guided liver biopsy confirmed a malignant epithelial neoplasm with neuroendocrine features, consistent with a pancreatic NET. Discussion: Ectopic ACTH syndrome is a rare disease with an incidence rate of 0.1 cases per million per year. Our case report presents a 31-year-old female with Cushing’s syndrome resulting from a functional pancreatic NET with ectopic ACTH production that caused extensive hepatic metastatic disease. Evidence-based treatment options are limited given the complexity and rarity of the disease.
CT Chest/Abdomen/Pelvis with IV contrast revealing a 5 cm pancreatic tail mass with extensive hepatic metastatic disease.
Disclosures: Camille Boustani indicated no relevant financial relationships. Xinyu Von Buttlar indicated no relevant financial relationships. Jacob Zaemes indicated no relevant financial relationships. Banafsheh Motazedi indicated no relevant financial relationships. Neil Sarna indicated no relevant financial relationships. Duncan Moore indicated no relevant financial relationships.