M

 

Multipl endokrin neoplazi sendromu 4

Kalıtsal - AD  TABLO

Bronşlarda karsinoid oluşması

Renal angiomyolipoma

Hipofiz adenoma (akromegali)

Pankreas adacık tümörleri

Papiller tiroid ca

Nöroendokrin tümörler

 

  • DeLellis RA, Lloyd RV, Heitz PU, Eng C. Pathology and Genetics: Tumours of the Endocrine Organs. World Health Organization Classification of Tumours Series. Vol 8. IARC Press; Lyon-France, 2004

  • Klöppel G, Perren A, Heitz PU. The gastroenteropancreatic neuroendocrine cell system and its tumors: the WHO classification. The Annals of the New York Academy of Sciences, 1014:13–27, 2004

  • Molatore S, Marinoni I, Lee M, et al. A novel germline CDKN1B mutation causing multiple endocrine tumors: clinical, genetic and functional characterization. Human Mutation, 31: E1825-E1835, 2010

  • Tonelli F, Giudici F, Giusti F, et al. A heterozygous frameshift mutation in exon 1 of CDKN1B gene in a patient affected by MEN4 syndrome. European journal of Endocrinology, 171: K7-K17, 2014