Endocrine Abstracts

Introduction: Occult neuroendocrine tumors are still a difficult diagnostic/therapeutic challenge.

Case report: In November 2007, a 29-years-old Caucasian woman was admitted to our in-patients clinic with a 2-month history of rapidly progressing signs and symptoms of chronic hypercortisolism, including a bipolar disorder in psychosis. On admission the patient presented with hypokalemia (3.2 mEq/l), high levels of plasma (3164 nmol/l) and urinary free (26 945 nmol/24 h) cortisol and high ACTH levels (354 ng/l), consistent with ACTH-dependent Cushing’s syndrome (CS). High-dose-dexamethasone failed to suppress ACTH and cortisol. Magnetic resonance imaging (MRI) of the pituitary was normal and bilateral inferior petrosal venous sampling did not show any central/peripheral or right-to-left gradient. Computed tomography (CT) of the chest and abdomen resulted negative as well as In-111 pentetreotide scintigraphy. No decrease was observed in plasma ACTH after 100 μg s.c. octreotide. Total body bone and MIBI scintigraphy, FDG-PET-CT, Ga-DOTANOC-PET, upper and lower bowel endoscopy, breast and thyroid ultrasound were uninformative. Neuroendocrine oncologic markers such as Cromogranine A (CgA), Ca19.9 and Tpa were only slightly increased. In February 2008 a pelvis MRI showed sacral and iliac osteoblastic lesions; bone biopsy revealed athypical epithelial cells AE1/AE3 citokeratin positive. In June 2008, because of unsuccessful medical therapy, bilateral adrenalectomy was performed, with complete remission of CS. In July 2008, a FDG-PET-CT showed an increased uptake in one left para-aortic and two left supraclavear lymphnodes, which were removed: at histology, an infiltrating neuroendocrine carcinoma AE1/AE3+, CD56+, CgA+, synaptofisine+, ACTH+, was diagnosed. After 14 months of stable disease, a tumor progression was found with bone, chest lymphnodes and hepatic metastases, associated to a hypophosphoremic and hyponatriemic paraneoplastic syndrome. Chemoterapy was started in December 2008, but uneffective. In March 2010, peritoneal tumor dissemination with ascites developed. In June 2010 the patient died, primitive tumor still occult.

Conclusions: Neuroendocrine tumors can manifest with different signs/symptoms/paraneoplastic syndromes. Their management may need change over time.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.