ECE2006 Poster Presentations Endocrine tumours and neoplasia (116 abstracts)
Multiple endocrine neoplasia type 1 and angiomyxoma
I Kostoglou-Athanassiou 1 , P Athanassiou 2 , D Thomas 1 , N Mytakidis 1 , E Vassiliou 1 , V Liakos 1 & Ph Kaldrymidis 1
1Metaxa Hospital, Pireaus, Greece; 2Asclepeion Hospital, Athens, Greece.
The presence of lipomas is a characteristic of the syndrome of multiple endocrine neoplasia type 1. The presence of myxomas, however, is a characteristic of Carney syndrome.
The aim of the study is the description of a patient with the syndrome of multiple endocrine neoplasia type 1 who presented with a malignant angiomyxoma.
A male patient, aged 42 years, presented with intense gastric complaints and was diagnosed with a gastroduodenal ulcer. A lung carcinoid tumor was found and was surgically removed. In the course of the disease an increase in calcium and parathyroid hormone blood levels was observed and primary hyperparathyroidism was diagnosed. Parathyroidectomy was performed and on histology parathyroid hyperplasia was diagnosed. On further follow-up a pituitary adenoma was found. It was removed transsphenoidally. Imaging studies were performed and a neoplasm in the perianal region was found. In the course of the disease a genetic screening was performed. An analysis of MEN 1 gene was negative for the presence of mutations. A polymorphic genetic variation was found without consequences in protein expression. The neoplasm in the perianal region increased in size, so that the patient had difficulty sitting. The perianal neoplasm was removed and on histology it was found to be a malignant angiomyxoma measuring 14 cm in diameter.
The case of a patient with the syndrome of multiple endocrine neoplasia type 1 is described. On genetic screening a polymorphic variation of the MEN 1 gene was found. The patient presented with a malignant angiomyxoma. This is the first case described of a malignant angiomyxoma in a patient with the syndrome of multiple endocrine neoplasia type 1.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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