Bilateral pheochromocytoma with ganglioneuroma component associated with multiple neuroendocrine neoplasia type 2A: a case report.

Autor: Efared B; Department of Pathology, Hassan II University Hospital, Fès, Morocco. befared2013@gmail.com., Atsame-Ebang G; Department of Pathology, Hassan II University Hospital, Fès, Morocco., Tahirou S; Department of Radiology, Hassan II University Hospital, Fès, Morocco., Mazaz K; Department of General and Visceral Surgery, Hassan II University Hospital, Fès, Morocco.; Faculty of Medicine and Pharmacology, Sidi Mohamed Ben Abdellah University, Fès, Morocco., Hammas N; Department of Pathology, Hassan II University Hospital, Fès, Morocco.; Faculty of Medicine and Pharmacology, Sidi Mohamed Ben Abdellah University, Fès, Morocco., El Fatemi H; Department of Pathology, Hassan II University Hospital, Fès, Morocco.; Faculty of Medicine and Pharmacology, Sidi Mohamed Ben Abdellah University, Fès, Morocco., Chbani L; Department of Pathology, Hassan II University Hospital, Fès, Morocco.; Faculty of Medicine and Pharmacology, Sidi Mohamed Ben Abdellah University, Fès, Morocco.
Jazyk: angličtina
Zdroj: Journal of medical case reports [J Med Case Rep] 2017 Aug 01; Vol. 11 (1), pp. 208. Date of Electronic Publication: 2017 Aug 01.
DOI: 10.1186/s13256-017-1364-6
Abstrakt: Background: Composite pheochromocytoma/paragangliomas are very rare tumors composed of ordinary pheochromocytoma paragangliomas associated with neurogenic tumors. Several hereditary susceptibility disorders are known to be associated with pheochromocytoma/paragangliomas such as multiple endocrine neoplasia type 2 (2A or B). To the best of our knowledge, only four cases of composite pheochromocytoma/paragangliomas associated with multiple endocrine neoplasia type 2 have been reported.
Case Presentation: A 40-year-old Arabic woman presented with headache, palpitations, paroxysmal hypertension, and weight loss, which she had had for the last 3 years. She had a familial history of diabetes and multiple endocrine neoplasia type 2. A radiological examination revealed thyroid lesions and bilateral adrenal medulla tumors. Our patient had undergone bilateral adrenalectomy, total thyroidectomy with cervical lymphadenectomy, and parathyroidectomy. A pathological examination confirmed the multiple endocrine neoplasia type 2A consisting of left medullary pheochromocytoma, right medullary composite pheochromocytoma-ganglioneuroma, medullary carcinoma of the thyroid with lymph node metastasis and parathyroid hyperplasia. A genetic analysis also revealed that our patient had a RET germline mutation.
Conclusion: Composite pheochromocytoma/paraganglioma associated with multiple endocrine neoplasia type 2 is a very rare occurrence, as the current literature provides only a few cases. Further reported cases are needed in order to understand the behavior and the pathogenesis of this uncommon entity.
Databáze: MEDLINE
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