Endocrine Abstracts

Gastrointestinal stromal tumors (GIST) are in high risk of developing additional malignancies, hereditary and also nonhereditary kind. Genetic changes are involved in the formation of GIST, about 80% are associated with KIT gene mutation and 10% of cases are associated with PDGFRA gene. These two mutations are found in both familial and sporadic GIST. We report a 65 years old female patient with a history of surgery for gastric GIST (T2N0). During the follow-up, after 4 years, she was diagnosed with left adrenal incidentaloma (35 mm). The endocrine exam revealed multiple thyroid nodules with large calcifications on ultrasound. Calcitonin was slightly increased with possible interference from proton pump inhibitors medication that she was using at the time. Vitamin D was low 15 ng/ml (N > 30 ng/ml) with a slightly increased PTH and normal serum calcium. Adrenal hormonal tests concluded: 8 a.m Cortisol: 25 µg/dl (N.V. 4.5–23 µg/dl), ACTH: 7 pg/ml (N.V. 7–63 pg/ml), CLU: 400 µg/24 h (N.V. 36–137 µg/24 h). The negative dexamethasone test (1 mg overnight, 2 mg for two days and 8 mg at midnight) along with the presence of adrenal tumor were suggestive for ACTH independent Cushing syndrome. The patient was referred to surgical department for curative treatment of the adrenal tumor. GIST and other endocrine neoplasias may occur in Carney triad and Neurofibromatosis type 1. This case is in accordance with other patients reported in the literature with same cancer association: GIST and Cushing syndrome, our goal being to determine sporadic occurrence or genetic affiliation between these two.