Abstract #1399269: Never Too Old for Genetics: An Unusually Late Presentation of Medullary Thyroid Cancer in MEN2A
نویسندگان
چکیده
Virtually all germline RET pathogenic variant carriers develop medullary thyroid carcinoma (MTC). If possible, thyroidectomy should be performed prophylactically, before developing MTC. We describe a patient with pheochromocytoma found to have p.Cys634Ser at age sixty years who would categorized as high risk based on genotype classification described by the American Thyroid Association and warranted prophylactic young age. A 60-year-old man history of hypothyroidism osteopenia was an adrenal mass during evaluation for kidney stones. It measured 4.1 x 3.2 3.8 cm CT scan abdomen pelvis. MRI without gadolinium revealed 4 left T2 enhancement. Diagnosis confirmed elevated levels plasma free metanephrine normetanephrine. The nodule showed avid uptake PET Gallium-68 DOTATATE scan. No noted contralateral gland or in neck. Patient underwent adrenalectomy. Surgical pathology pheochromocytoma. also had evidence primary hyperparathyroidism (pHPT). Germline genetic analysis c.1900T >A(p.Cys634Ser) confirming diagnosis multiple endocrine neoplasia type 2A (MEN2A). Calcitonin level mildly 27.8 pg/ml. Subsequently, total thyroidectomy, subtotal parathyroidectomy bilateral central neck dissection. multifocal MTC, diffuse C-cell hyperplasia, foci papillary microcarcinoma. Immunohistochemistry calcitonin hyperplasia. doing well postoperative follow up downtrended < 2 Nearly patients MEN2A either hyperplasia (CCH) approximately 50% 20-30% pHPT. Age-related penetrance CCH hMTC is mutation dependent. Peak incidence index third decade life MEN2A. Our presented sixth life. decided pursue testing. DOTATE did not show only elevated. However, there known complete MTC syndrome, dissection results surgical presence This case highlights importance considering syndromes even present older ages challenges classic genotype-phenotype correlation
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ژورنال
عنوان ژورنال: Endocrine Practice
سال: 2023
ISSN: ['1530-891X', '1934-2403']
DOI: https://doi.org/10.1016/j.eprac.2023.03.094