Incidental Detection of Synchronous Medullary Thyroid Carcinoma with Bilateral Adrenal Pheochromocytoma on Iodine-123 Metaiodobenzylguanidine Scintigraphy, Leading to Diagnosis of Multiple Endocrine Neoplasia 2A
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چکیده
We report a case of a 29-year-old female with the family history of medullary thyroid carcinoma (MTC) presenting with hematuria and tachycardia, who was found to have bilateral adrenal masses on abdominal computed tomography and biochemical testing compatible with pheochromocytoma. Iodine-123 (I-123) metaiodobenzylguanidine (MIBG) scintigraphy for preoperative planning prior to planned adrenalectomy revealed incidental synchronous unifocal MTC, along with expected bilateral adrenal pheochromocytomas. Pathology confirmed these findings, and subsequent genetic testing confirmed a rearranged during transfection proto-oncogene mutation on exon 11, confirming the clinical diagnosis of multiple endocrine neoplasia 2A (MEN 2A). The unexpected incidental finding of synchronous MTC highlights the importance of considering MEN in the differential diagnosis when encountered with newly diagnosed pheochromocytoma and highlights the utility of I-123 MIBG scintigraphy in diagnostic workup of newly diagnosed pheochromocytoma.
منابع مشابه
Multiple endocrine neoplasia similar to human subtype 2A in a dog: Medullary thyroid carcinoma, bilateral pheochromocytoma and parathyroid adenoma
Human multiple endocrine neoplasia subtype 2A (MEN 2A) is characterized by medullary thyroid carcinoma, pheochromocytoma and parathyroid hyperplasia or adenoma in the same individual. In this report, a case of a female Rottweiler with medullary thyroid carcinoma, bilateral pheochromocytoma and parathyroid adenoma was described. Clinical manifestations of muscle weakness, polydipsia, polyuria, d...
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BACKGROUND This study aims to introduce the diagnosis and surgical treatment of the rare disease multiple endocrine neoplasia type 2A (MEN 2A). METHODS Thirteen cases of MEN 2A were diagnosed as medullary thyroid carcinoma (MTC) and pheochromocytoma by biochemical tests and imaging examination. They were treated by bilateral adrenal tumor excision or laparoscopic surgery. RESULTS Nine patie...
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متن کاملPheochromocytoma Primary hyperparathyroidism Ganglioneuromarosis RET proto-oncogene Tyrosine kinase inhibitors Abbreviations MEN Multiple endocrine neoplasia MTC Medullary thyroid carcinoma Ct Calcitonin Pheo Pheochromcytoma HPT Primary hyperparathyroidism FMTC Familial medullary thyroid carcinoma RET gene Rearranged during transfection gene
Multiple endocrine neoplasia type 2 (MEN2) is a autosomal dominat inherited tumour-syndrome caused by germline activating mutations of the RET proto-oncogene on chromosome 10. It is clinically characterized by the presence of medullary thyroid carcinoma (MTC), bilateral pheochromocytoma and primary hyperparathyroidism (MEN2A) within a single patient. Three distinct clinical forms have been desc...
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Multiple endocrine neoplasia type 2A (MEN2A), a subtype of MEN2, is characterized by medullary thyroid cancer, pheochromocytoma, and primary hyperparathyroidism. A Han Chinese pedigree with MEN2A was investigated following confirmation of the proband's diagnosis by pathological findings and DNA/biochemical screening. DNA samples from 4 other family members were collected and exon 5, 8, 10, 11, ...
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