[Medullary carcinoma of the thyroid: a case of multiple endocrine neoplasia type 2A].
Medullary thyroid carcinoma (MTC) is a neoplasm derived from thyroid C-cells. It can appear under different variants; in the 20-30% of the cases, it's a familial variant. Nevertheless, the MTC appearing in MEN 2-A has a better prognosis compared to MEN 2-B. Usually, the diagnosis of MEN 2-A is done at the age of 20, and frequently (in the 50% of the cases) these patients develop, in a second time, adrenal hyperplasia and/or pheochromocytoma. The case we are talking about, concerns a patient of 49 years old, who came to our observation with a history of bilateral adrenalectomy for pheochromocytoma. What attracted our attention was the presence, in his family, of a brother, who died from pheochromocytoma, and the mother, died for a MTC. During the admit in our section, the patient has undergone a screening for the thyroid function, also if there wasn't a sign or symptom of interest of the gland. It has been possible to single out some nodular formations that, together with the high value of the calcitonin found, allowed the diagnosis of MTC. It has been very important to make diagnosis of MEN 2-A because we can introduce the patient and his family to a program of screening to precociously single out the presence of the typical signs of this pathology. In MEN 2-A a precocious diagnosis allows to sensibly improve the prognosis.
Pati
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Policlinico Umberto I, Università degli Studi di Roma La Sapienza, Roma.
Sperti
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Magiar
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AV
Bonifacio
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V
D000310:Adrenal Gland Neoplasms / Q000175:diagnosis* / Q000235:genetics; D014408:Biomarkers, Tumor / Q000097:blood; D002116:Calcitonin / Q000097:blood; D018276:Carcinoma, Medullary / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009377:Multiple Endocrine Neoplasia / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D010673:Pheochromocytoma / Q000175:diagnosis* / Q000235:genetics; D013964:Thyroid Neoplasms / Q000175:diagnosis* / Q000235:genetics
D014408:Biomarkers, Tumor; D002116:Calcitonin
Carcinoma midollare della tiroide: un caso di neoplasia endocrina multipla tipo 2 A.