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Sipple Syndrome: From Diagnosis to Management - A Case Report | ||
Middle East Journal of Cancer | ||
مقاله 19، دوره 15، شماره 1 - شماره پیاپی 57، فروردین 2024، صفحه 72-78 اصل مقاله (459.1 K) | ||
نوع مقاله: Case Report(s) | ||
شناسه دیجیتال (DOI): 10.30476/mejc.2023.95092.1754 | ||
نویسندگان | ||
Ruwaida Mira1؛ Ranim Mira* 2؛ Moftah O. Sherad3؛ Mohamed Rohuma4 | ||
1Department of Oral Medicine and Oral Pathology, School of Dentistry, Zawia University, Zawia, Libya | ||
2Department of Biochemistry, School of Medicine, Zawia University, Zawia, Libya | ||
3Department of Histology/Pathology, National Cancer Institution, Sabratha, Libya | ||
4Department of Oral and Maxillofacial Surgery, School of Dentistry, Zawia, Libya | ||
چکیده | ||
Multiple endocrine neoplasia (MEN) is a rare inherited disease caused by multiple complex mutations in the RET gene. It is characterized by the occurrence of tumors involving more than two endocrine glands in the same patient. MEN is classified into two types: MEN type 1 (Wermer syndrome) and MEN type 2, which is further subclassified into two phenotypes: MEN 2A (Sipple syndrome) and MEN 2B (Shimcke syndrome). Sipple syndrome is the most common type of MEN type 2. It is characterized by the presence of medullary thyroid carcinoma (MTC), unilateral or bilateral pheochromocytoma, and primary hyperparathyroidism due to parathyroid cell hyperplasia or adenoma. In this article, the authors report a case of a 34-year-old Libyan woman with Rh positive B blood group who presented with an enlarged neck mass. Based on clinical, radiological, biochemical, and cytological assessments, the mass was diagnosed as MTC. Two weeks apart, the patient underwent right adrenalectomy and total thyroidectomy, while the parathyroid glands were found to be normal and preserved. In cases where a neck mass is the only symptom manifestation, it is crucial to carefully investigate for other MEN 2A findings, especially if there is a family history of MTC, to ensure a good prognosis. Patients with MEN 2A should undergo regular screening and be managed by a multidisciplinary team. | ||
تازه های تحقیق | ||
Ruwaida Mira (Google Scholar) | ||
کلیدواژهها | ||
Multiple endocrine neoplasia type 2a؛ Pheochromocytoma؛ Fluorodeoxyglucose؛ Calcitonin؛ Carcinoembryonic antigen | ||
مراجع | ||
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