ECE2015 Eposter Presentations Endocrine tumours (69 abstracts)
Gastrointestinal stromal tumour in a patient with multiple endocrine neoplasia type 1
Murat Sahin 1 , Ayten Oguz 1 , Dilek Tuzun 1 , Ilhami Taner Kale 2 , Cansu Yilmaz Cabioglu 3 , Muharrem Bitiren 4 , Safa Ersen Ganidagli 3 , Tugba Yilmaz 3 & Kamile Gul 1
1Department of Endocrinology and Metabolism, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey; 2Department of General Surgery, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey; 3Department of Internal Medicine, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey; 4Department of Pathology, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey.
Introduction: Multiple endocrine neoplasia type-1 (MEN-1) is an autosomal dominant disorder MEN-1 diagnosis is established as the occurrence of two or more MEN-1 associated tumour or one MEN-1 associated tumour in a patient that have 1 MEN-1 family member or positive MEN-1 genetic mutation. MEN-1 associated tumours usually involve the parathyroid glands, anterior pituitary and enteropancreatic cells but many other tumours may be seen. In this report, we presented a gastrointestinal stromal tumour (GIST) in a patient with MEN-1.
Case: A first degree relative of a patient that has MEN-1 was hospitalised to our clinic for screening MEN-1 related tumours. The patient has stomach ache for 6 months and a history of gastric surgery for perforation 9 years ago. In his family history one brother was diagnosed as MEN-1 (parathyroid adenoma, Cushing’s disease, gastric neuroendocrine tumour, pancreatic mass and positive MEN gene mutation) and other siblings are under evaluation for MEN-1 associated tumours. In physical examination palpation of abdomen revealed a mass in epigastrium and other findings were normal. Laboratory results were as follow; calcium 10.8 mg/dl (8.4–10.2), phosphor 1.7 mg/dl (2.4–5.4), cortisol 23.88 μg/dl (5–23), prolactine 19.7 ng/ml (3–23), IGF1 152 ng/dl (11–836), TSH 1.57 μIU/ml (0.4–4.2), fT4 0.91 ng/dl (0.8–2.7), gastrin 57.2 pmol/l (6.2–54.8), insulin 6.92 μIU/ml (6–27) and cortisol after low dose dexamethasone suppression test 1.45 μg/dl. Parathyroid ultrasound showed a hypoechoic solid mass in posterior of the left thyroid lobe, suggestive for parathyroid adenoma. Abdomen CT showed a 112×73 mm solid mass. General surgery performed a biopsy and pathologic examination revealed a GIST.
Conclusion: GISTs are neoplasms arising from connective tissue located in the gastrointestinal wall. GISTs are uncommon neoplasms for MEN-1 syndrome and only a few cases are reported. It is not clear whether GISTs are coincidental or there is a role of MEN-1 gene mutation in these tumours.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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