Multiple endocrine neoplasms

被引：29
作者：
Falchetti, Alberto
Marini, Francesca
Luzi, Ettore
Tonelli, Francesco [2 ]
Brandt, Maria Luisa [1 ,3 ]
机构：
[1] Univ Florence, Dept Internal Med, I-50139 Florence, Italy
[2] Univ Florence, Dept Clin Physiopathol, Surg Unit, I-50139 Florence, Italy
[3] Univ Florence, Azienda Osped Univ Careggi, Reg Ctr Hereditary Endocrine Tumours, I-50139 Florence, Italy
来源：
BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY | 2008年 / 22卷 / 01期
关键词：
hereditary endocrine tumours; clinical management of endocrine tumours; tumour suppressor gene; oncogene; genetic diagnosis;
D O I：
10.1016/j.berh.2007.11.010
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Multiple endocrine neoplasia type I (MEN 1) and type 2 (MEN2) are rare autosomal-dominant disorders characterized by primary tumours in at least two different endocrine tissues. Both syndromes present as sporadic (a single case with two of the characteristic endocrine tumours) or familial form (an MEN case plus at least one first-degree relative showing one of the characteristic endocrine tumours). MEN1 is characterized by the occurrence of parathyroid, gastro-entero-pancreatic and anterior pituitary tumours, but it can include various combinations of more than 20 endocrine and non-endocrine tumours. Generally, tumours in MEN1 are benign, although gastrinomas and foregut carcinoids may exhibit a malignant course. MEN2 is characterized by medullary thyroid carcinoma (MTC), uni- or bi-lateral pheochromocytoma, and other tumours of different endocrine tissues. If not diagnosed precociously, MTC can be fatal.
引用
收藏
页码：149 / 163
页数：15
相关论文
共 69 条
[51]   Bronchopulmonary carcinoid in multiple endocrine neoplasia type 1 [J].
Sachithanandan, N ;
Harle, RA ;
Burgess, JR .
CANCER, 2005, 103 (03) :509-515
[52]   Frequency of facial angiofibromas in Japanese patients with multiple endocrine neoplasia type 1 [J].
Sakurai, A ;
Matsumoto, K ;
Ikeo, Y ;
Nishio, SI ;
Kakizawa, T ;
Arakura, F ;
Ishihara, Y ;
Saida, T ;
Hashizume, K .
ENDOCRINE JOURNAL, 2000, 47 (05) :569-573
[53]   Minireview: RET: Normal and abnormal functions [J].
Santoro, M ;
Melillo, RM ;
Carlomagno, F ;
Vecchio, G ;
Fusco, A .
ENDOCRINOLOGY, 2004, 145 (12) :5448-5451
[54]   The multiple endocrine neoplasia type 1 gene product, menin, inhibits insulin production in rat insulinoma cells. [J].
Sayo, Y ;
Murao, K ;
Imachi, H ;
Cao, WM ;
Sato, M ;
Dobashi, H ;
Wong, NCW ;
Ishida, T .
ENDOCRINOLOGY, 2002, 143 (06) :2437-2440
[55]   Genome-wide analysis of menin binding provides insights into MEN1 tumorigenesis [J].
Scacheri, Peter C. ;
Davis, Sean ;
Odom, Duncan T. ;
Crawford, Gregory E. ;
Perkins, Stacie ;
Halawi, Mohamad J. ;
Agarwal, Sunita K. ;
Marx, Stephen J. ;
Spiegel, Allen M. ;
Meltzer, Paul S. ;
Collins, Francis S. .
PLOS GENETICS, 2006, 2 (04) :406-419
[56]  
SCHEITHAUER BW, 1987, SEMIN DIAGN PATHOL, V4, P205
[57]   Functional interaction between tumor suppressor menin and activator of S-phase kinase [J].
Schnepp, RW ;
Hou, ZY ;
Wang, HR ;
Petersen, C ;
Silva, A ;
Masai, H ;
Hua, XX .
CANCER RESEARCH, 2004, 64 (18) :6791-6796
[58]  
SHEPPARD BC, 1989, SURGERY, V106, P1108
[59]   Menin inactivation leads to loss of transforming growth factor β inhibition of parathyroid cell proliferation and parathyroid hormone secretion [J].
Sowa, H ;
Kaji, H ;
Kitazawa, R ;
Kitazawa, S ;
Tsukamoto, T ;
Yano, S ;
Tsukada, T ;
Canaff, L ;
Hendy, GN ;
Sugimoto, T ;
Chihara, K .
CANCER RESEARCH, 2004, 64 (06) :2222-2228
[60]   The 32-kilodalton subunit of replication protein A interacts with menin, the product of the MEN1 tumor suppressor gene [J].
Sukhodolets, KE ;
Hickman, AB ;
Agarwal, SK ;
Sukhodolets, MV ;
Obungu, VH ;
Novotny, EA ;
Crabtree, JS ;
Chandrasekharappa, SC ;
Collins, FS ;
Spiegel, AM ;
Burns, AL ;
Marx, SJ .
MOLECULAR AND CELLULAR BIOLOGY, 2003, 23 (02) :493-509
1234567