title: Two case reports of pilot percutaneous cryosurgery in familial multiple endocrine neoplasia type 1.
abstract: 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.
authors: National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
authors: Jialiang
authors: J
authors: Li
authors: Changming
authors: C
authors: Zhang
authors: Jibing
authors: J
authors: Chen
authors: Fei
authors: F
authors: Yao
authors: Jianying
authors: J
authors: Zeng
authors: Liwen
authors: L
authors: Huang
authors: Xiuli
authors: X
authors: Yang
authors: Weiqun
authors: W
authors: Liu
authors: Feng
authors: F
authors: Chen
authors: Keqiang
authors: K
authors: Xu
authors: Daming
authors: D
authors: Yang
authors: Lizhi
authors: L
authors: Niu
authors: Jiansheng
authors: J
authors: Zuo
authors: Kecheng
authors: K
authors: Xu
authors: DePei
authors: D
authors: Liu
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D017024:Chemotherapy, Adjuvant; D003452:Cryosurgery / Q000379:methods*; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008207:Lymphatic Metastasis; D008297:Male; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D009154:Mutation; D010190:Pancreatic Neoplasms / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D010375:Pedigree; D010641:Phenotype; D011518:Proto-Oncogene Proteins / Q000235:genetics; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins