【摘 要】
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We report 2 cases of familial multiple endocrine neoplasia type 1 syndrome (MEN 1) in related Malaysian Chinese individuals: the son had simultaneous primary lesions in the pancreatic tail, parathyroi
【机 构】
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National Laboratory of Medical Molecular Biology,Institute of Basic Medical Sciences,Chinese Academy
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We report 2 cases of familial multiple endocrine neoplasia type 1 syndrome (MEN 1) in related Malaysian Chinese individuals: the son had simultaneous primary lesions in the pancreatic tail, parathyroid, adrenal gland, and hypophysis, with metastatic tumors in the left lung, mediastinum and spine; his mother had simultaneous primary lesions in the pancreatic head, parathyroid, and hypophysis, with metastatic tumors in the liver, spine, ilium, chest wall, and rib.Genetic testing of the 2 patients showed the same mutation in exon 9 of MEN1 (c.1288G9T, Glu430, encoding a stop codon).The tumors with the poorest prognosis and clinical sequelaewere in the pancreas of both patients, and thesewere treated by percutaneous cryoablation.The number of hypoglycemic episodes in the son improved for more than 120 days, and the abdominal space occupying lesion resolved in his mother.
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