15-10 ⓔ文献

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

  2. Agarwal SK: The future: genetics advances in MEN1 therapeutic approaches and management strategies. Endocr Relat Cancer, 2017; 24: T119–T134.

  3. Newey PJ, Nesbit MA, et al: Whole–exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas. J Clin Endocrinol Metab, 2012; 97: E1995–2005.

  4. Scarpa A, Chang DK, et al: Whole–genome landscape of pancreatic neuroendocrine tumours. Nature, 2017; 543: 65–71.

  5. Gaudet P, Murat A, et al: Risk factors and causes of death in MEN1 disease. A GTE (Groupe d’Etude des Tumeurs Endocrines) cohort study among 758 patients. World J Surg, 2010; 34: 249–255.

  6. van Wijk JP, Dreijerink KM, et al: Increased prevalence of impaired fasting glucose in MEN1 gene mutation carriers. Clin Endocrinol (Oxf), 2012; 76: 67–71.

  7. Yamazaki M, Suzuki S, et al: Delay in the diagnosis of multiple endocrine neoplasia type 1: typical symptoms are frequently overlooked. Endocr J, 2012; 59: 797–807.

  8. Sakurai A, Yamazaki M, et al: Clinical features of insulinoma in patients with multiple endocrine neoplasia type 1: analysis of a database of MEN Consortium of Japan. Endocr J, 2012; 59: 859–866.

  9. Sakurai A, Imai T, et al: Thymic neuroendocrine tumor in multiple endocrine neoplasia type 1: female patients are not rare exceptions. Clin Endocrinol (Oxf), 2013; 78: 248–254.

  10. Lemos MC, Thakker RV: Multiple endocrine neoplasia type 1 (MEN1): Analysis of 1336 mutations reported in the first decade following identification of the gene. Hum Mutat, 2009; 29: 22–32.

  11. Wells SA Jr, Asa SL, et al: Revised American Thyroid Association Guidelines for the management of medullary thyroid carcinoma. Thyroid, 2015; 25: 567–610.

  12. Imai T, Uchino S, et al: High penetrance of pheochromocytoma in multiple endocrine enneoplasia type 2 caused by germline RET 634 mutation in Japanese patients. Eur J Endocrinol, 2013; 168: 683–687.

  13. Frank–Raue K, Rybicki LA, et al: Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. Human mutation, 2011; 32: 51–58.

  14. Castinetti F, Waguespack SG, et al: Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study. Lancet Diabetes Endocrinol, 2019; 7: 213–220.