National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Pancreas. 2013 Mar;42(2):353-7. doi: 10.1097/MPA.0b013e318258f233.
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.1288G>T, Glu430, encoding a stop codon). The tumors with the poorest prognosis and clinical sequelae were in the pancreas of both patients, and these were 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.
我们报告 2 例马来西亚华裔家族性多发性内分泌腺瘤病 1 型(MEN1)患者:儿子同时患有胰尾、甲状旁腺、肾上腺和垂体原发性肿瘤,左肺、纵隔和脊柱转移瘤;母亲同时患有胰头、甲状旁腺和垂体原发性肿瘤,肝脏、脊柱、髂骨、胸壁和肋骨转移瘤。对 2 名患者进行基因检测显示 MEN1 外显子 9 中存在相同的突变(c.1288G>T,Glu430,编码终止密码子)。预后最差和有临床后遗症的肿瘤均位于两名患者的胰腺,采用经皮冷冻消融术治疗。儿子的低血糖发作次数改善超过 120 天,母亲的腹部占位性病变得到缓解。