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 type 1 patients. 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