M

 

Multipl endokrin neoplazi sendromu 1 (MEN1; Wermer sendromu)

Kalıtsal - AD  TABLO

Çoğu endokrin kökenli tümörler

Paratiroid adenomu (hiperkalsemi, metastatik kalsifikasyonlar)

Pankreas adacık tümörü (gastrinoma, glukagonoma, insülinoma, anemi, venöz tromboz, diyare)

Gastrinoma tümörlerinde “Zollinger-Ellison sendromu

Glukagonoma’da deri döküntüleri

Hipofiz tümörü (prolaktioma; kadınlarda oligomenore/amenore, galaktore, erkeklerde cinsel disfonksiyon ve jinekomasti; büyüme hormonu artışında akromegali; ACTH üretiminde Cushing sendromu)

Adrenal korteks tümörü (hiperkortizolizm, hiperaldosteronizm)

Karsinoid (hormon üretmeyen tümörler)

Endokrin niteliği olmayan tümörler (yüz derisinde angiofibromalar, deride lipoma, meningioma, ependimoma, leiomyomalar)

Gingival hiperplazi (nodüler)

Glossit

Café-au-lait

Serpilmiş vitiligo lekeleri

Hiperglisemi

Hiperkalsüri

Ürolityazis

Akromegali

Aklordihri

Anemi

Bkz Zollinger-Ellison sendromu

 

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  • Brandi ML, Gagel RF, Angeli A, et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. Journal of Clinical Endocrinology & Metabolism, 86:5658–5671, 2001

  • Schussheim DH, Skarulis MC, Agarwal SK, et al. Multiple endocrine neoplasia type 1: new clinical and basık findings. Trends in Endocrinology & Metabolism, 12: 173-178, 2001

  • 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

  • Asgharian B, Turner ML, Gibril F, Entsuah LK, Serrano J, Jensen RT. Cutaneous tumors in patients with multiple endocrine neoplasm type 1 (MEN1) and gastrinomas: prospective study of frequency and development of criteria with high sensitivity and specificity for MEN1. Journal of Clinical Endocrinology & Metabolism, 89:5328–5336, 2004

  • Simonds WF, Robbins CM, Agarwal SK, et al. Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. Journal of Clinical Endocrinology & Metabolism, 89: 96-102, 2004

  • Xia Y, Darling TN. Rapidly growing collagenomas in multiple endocrine neoplasia type I. Journal of the American Academy of Dermatology, 56:877–880, 2007

  • Imamura M, Komoto I, Ota S, Hiratsuka T, Kosugi S, Doi R, Awane M, Inoue N. Biochemically curative surgery for gastrinoma in multiple endocrine neoplasia typepatients. The World Journal of Gastroenterology, 17:1343–1353, 2011

  • Jiao Y, Shi C, Edil BH, et al. DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors. Science, 331: 1199-1203, 2011