Pancreas · 2013
Two case reports of pilot percutaneous cryosurgery in familial multiple endocrine neoplasia type 1.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Li Jialiang, Zhang Changming, Chen Jibing, Yao Fei, Zeng Jianying, Huang Liwen, Yang Xiuli, Liu Weiqun, Chen Feng, Xu Keqiang, Yang Daming, Niu Lizhi, Zuo Jiansheng, Xu Kecheng, Liu DePei
Аннотация
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.
Предметные рубрики MeSH
Adrenal Gland NeoplasmsChemotherapy, AdjuvantCryosurgeryDNA Mutational AnalysisExonsFemaleGenetic Predisposition to DiseaseHumansLymphatic MetastasisMaleMiddle AgedMultiple Endocrine Neoplasia Type 1MutationPancreatic NeoplasmsPedigreePhenotypeProto-Oncogene ProteinsTomography, X-Ray ComputedTreatment OutcomeYoung Adult