Fellow SUNY Upstate Medical Center East Williston, New York, United States
Introduction: Ectopic ACTH production accounts for up to 20 % of ACTH-dependent Cushing’s syndrome. The true incidence of ectopic ACTH-producing tumors (EAS) is probably higher due to underreporting and underdiagnosis. Patients often lack classic features of glucocorticoid excess resulting in a greater diagnostic challenge.
Case Description: A 41-year-old male nonsmoker with recent onset hypertension and type 2 diabetes presented with easy bruising, abdominal distention, weight gain, and decreased muscle strength. The patient on presentation had an elevated BP of 144/103 mmHg, HR 92 bpm, BMI 26. He had round face with facial plethora, dorsocervical fullness, purplish striae, chronic non-healing lower extremity ulcer, bilateral lower extremity edema, and decreased proximal muscle strength. His laboratory tests showed random cortisol 84.3, serum bicarbonate 30 mmol/l (22-29), sodium 143 mmol/L(136-145), serum potassium 2.5 mom/L (3.4- 5.1), chloride 99 mmol/L (98-107), serum glucose 317 mg/dl (70-140), albumin 3.2 g/dL (3.5-5.2), ALT 41 U/L ( <41), AST 13 U/L ( <40). Hemoglobin A1c was 8.4% (4-5.6). Overnight 1 mg dexamethasone suppression test showed cortisol 103.6 ug/dl. 11 pm salivary cortisol 5 ug/dl (0.025-0.6). 24-hour urine cortisol was 15,618ug/24 hr (5-64), 24-hour urine normetanephrine 950 mcg/day (156-729), 24-hour urinary metanephrine 268 mcg/day (58-276). ACTH was 285 pg/mL (7.2-63.3). Overnight 8 mg dexamethasone suppression test showed an unsuppressed cortisol level of 118.1 ug/dl. MRI brain with pituitary protocol was normal. CT angiogram thorax showed a right mid-bronchus lesion which on biopsy showed necrotic tumor suggestive of neuroendocrine tumor. During his evaluation, he had worsening dyspnea and contrast CT imaging showed a pulmonary embolism. PET CT showed multiple hypermetabolic lymph nodes consistent with metastatic disease. He was started on Osilodrostat, anticoagulation, and pneumocystis carinii antibiotic prophylaxis. Interestingly post-biopsy symptoms and cortisol levels showed significant improvement. 24-hour urine cortisol was 6. The multidisciplinary team managed it as small cell lung cancer and initiated systemic chemotherapy and external beam radiation to improve local control and there was no recurrence of hypercortisolemia after stopping Osilodrostat post chemotherapy and radiation.
Discussion: EAS are most commonly thoracic origin that cause extreme hypercortisolemia carrying a high mortality rate due to increased risk for life-threatening infections, and venous thromboembolism. Emergent bilateral adrenalectomy may be lifesaving, especially in unresectable disease. This is the first case that reported a decrease in cortisol levels after the biopsy.
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