Background: Neuroendocrine tumors (NETs) represent a complex entity of neoplasm arising from different cell types of neural crest origin. They can produce and/or secrete various hormones or vasoactive substances. Usually sporadic, they can occur in association with other cancers, as part of a multiple endocrine neoplasia type 1 (MEN1), von HippelLindau disease, von Recklinghausen, tuberous sclerosis.
Case report: We report a case of neuroendocrine tumor in a 15-year male adolescent referred to our clinic for tarry stool, weakness, paleness and significant weight gain (13 kg in the last 8 months). Nine months before he had been hospitalized for acute anemia due to a 18-mm ulcerative lesion of the duodenal bulb, successfully treated with PPI.
Clinical features: He showed pale skin and mucous membranes. He had protruding abdomen for fat, with palpable liver 1 cm from costal arch. BMI 25 kg/m2. Blood pressure: 125/85 mmHg. Laboratory tests confirmed severe anemia (Hb 6.3 g/dl) and showed moderate hypokalemia (3.34 mEq/l) and hyperglycemia (9.8 mMol/l). EGDS revealed two ulcers, the former on upper duodenal bulb with evidence of recent bleeding and the latter in the second duodenal tract.
Laboratory and imaging exams: The MRI showed normal anatomy of the hypothalamicpituitary region, increased liver size, with numerous nodular lesions (size from 2 to 24 mm) normal adrenal glands and a 4-cm solid neoformation located between the body and the tail of pancreas. Secondary-level laboratory exams demonstrated very high urinary free cortisol/die (>1000 μg/24 h), salivar cortisol (>36 ng/ ml), ACTH (412 pg/ml), free testosterone androstenedione, high level of chromogranin A (>1000 ng/ml) and gastrin (>1000 pg/ml).
Conclusion: Ultrasound-guided biopsy of hepatic lesion (segment VI) confirmed the pancreatic origin of a gastrin-secreting neoplasm (immunophenotype: CDX2, synaptophysin and gastrin +). The patient underwent distal pancreatectomy, splenectomy, multiple hepatic biopsies and transcatheter arterial chemoembolization (TACE) via the femoral artery, followed by liver transplantation. The histological confirmed well-differentiated pancreatic endocrine carcinoma with gastrin-secreting G cells (T3N1M1).
The treatment was successful in normalizing all clinical features and lab parameters.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology