We report a 21-year-old woman with
ectopic ACTH syndrome due to
islet cell carcinoma with multiple liver
metastases. On admission, she showed Cushingoid appearance (moon face,
central obesity etc.) and had
acute respiratory distress syndrome due to
pneumocystis carinii pneumonia. Laboratory examination revealed marked elevations of plasma
ACTH (735 pg/ml) and
cortisol (145 microg/dl) with a profound
hypokalemia (2.0 mEq/l). She was found to have multiple masses in the liver and a solid mass in the tail of pancreas by abdominal computerized tomography scanning. Treatment with
octreotide successfully reduced elevated plasma
ACTH and
cortisol levels, and she received frequent transhepatic arterial embolization and
chemotherapy. The primary pancreatic
tumor was surgically removed, revealing
islet cell carcinoma which contained high content of
ACTH (100 microg/g wet weight) and abundantly expressed
proopiomelanocortin and
somatostatin receptor subtype-2 mRNAs as determined by Northern blot analysis. Postoperatively, she was free from symptoms for almost one year. However, progressive enlargement of multiple liver
metastases refractory to
chemotherapy led her to decide on total
hepatectomy and
liver transplantation from her father. After
liver transplantation, she remained almost free from symptoms for almost one year. However,
metastases developed to the mediastinal and paraaortic lymph nodes as detected by
111[In] pentetreotide scintigraphy. Eleven months after
liver transplantation, she was again treated with
octreotide and, 16 months after, with
metyrapone, both of which were effective in reducing
ACTH and
cortisol levels, respectively, until she died of acute
respiratory failure. This case of a young female patient with ectopic
ACTH-producing
islet cell carcinoma of the pancreas was quite unique in that she survived for 5 years despite the acute onset and rapid progression of the multiple liver
metastases at least in part due to the long-lasting favorable response to
octreotide and living-related
liver transplantation.