Clinical_Rounds_in_Endocrinology_Volume_II_-_Pediatric_Endocrinology

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ras activates a number of downstream signaling pathways including the mam-

malian target of rapamycin (mTOR) and mitogen-activated protein kinase

(MAPK) pathways. Loss-of-function mutations of NF1 gene result in inactiva-

tion of GTPase activity, thereby leading to unrestrained activity of ras signaling

pathway and consequent tumorigenesis in neurofibromin-responsive tissues.

Further Readings

1. Correa R, Salpea P, Stratakis CA. Carney complex: an update. Eur J Endocrinol.
   2015;173:M85–97.


2. DeGroot L, Jameson J. Endocrinology. Philadelphia: Saunders/Elsevier; 2010.


3. Ferner RE, Huson SM, Thomas N, et al. Guidelines for the diagnosis and management of
   individuals with neurofibromatosis 1. J Med Genet. 2007;44:81.


4. Kloos RT, Eng C, Evans DB, et al. Medullary thyroid cancer: management guidelines of the
   American Thyroid Association. Thyroid. 2009;19:565–612.


5. Lee M, Pellegata NS. Multiple endocrine neoplasia type 4. In: Stratakis CA, editor. Endocrine
   tumor syndromes and their genetics. Basel: Karger; 2013. p. 63–78. Front Horm Res.


6. Longo D, Fauci A, Kasper D, Hauser S, Jameson J, Loscalzo J. Harrison’s principles of inter-
   nal medicine. 18th ed. New York: McGraw Hill Professional; 2012.


7. Maher ER, Neumann HP, Richard S. von Hippel–Lindau disease: a clinical and scientific
   review. Eur J Hum Genet. 2011;19:617–23.


8. Marini F, Falchetti A, Del MF, Carbonell SS, Tognarini I, Luzi E, Brandi ML. Multiple endo-
   crine neoplasia type 2. Orphanet J Rare Dis. 2006;1:1–6.


9. Melmed S, Williams R. Williams textbook of endocrinology. Philadelphia: Elsevier/Saunders;
   2011.


10. Moline J, Eng C. Multiple endocrine neoplasia type 2: an overview. Genet Med.
    2011;13:755–64.


11. Thakker RV. Multiple endocrine neoplasia type 1. Endocrinol Metab Clin N Am.
    2000;29:541–67.


12. Thakker RV, Newey PJ, Walls GV, et al. Clinical practice guidelines for multiple endocrine
    neoplasia type 1 (MEN1). J Clin Endocrinol Metab. 2012;97:2990–3011.


13. Wohllk N, Schweizer H, Erlic Z, Schmid KW, Walz MK, Raue F, Neumann HP. Multiple
    endocrine neoplasia type 2. Best Pract Res Clin Endocrinol Metabol. 2010;24:371–87.

11 Multiple Endocrine Neoplasia