Standards of Care Intended for Multiple Endocrine Neoplasia Families

References

• Knudson AG Jr . Genetics of human cancer. Ann. Rev. Genet.20, 231–251 (1986).
   PubMed Web of Science ®Google Scholar
• Wilson JMG , JungnerG. Principles and practice of screening for disease.WHO, Geneva, Switzerland (1968). www.who.int/bulletin/volumes/86/4/07–050112BP.pdf.
   Google Scholar
• Andermann A , BlancquaertI, BeauchampS, DéryV. Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years. Bull. World Health Organ.86, 317–319 (2008).
   PubMed Web of Science ®Google Scholar
• Erdheim J . Zur normalen und pathologischen histologie der glandula thyreoidea, parathyreoidea und hypophysis. Beitr. Pathol. Anat. Allg. Pathol.33, 158–190 (1903).
   Google Scholar
• Rossier PH , DresslerM. Familiäre erkrankung innersekretorischer drüsen, kombiniert mit ulkuskrankheit. Schweiz. Med. Wochenschr.69, 34 (1939).
   Google Scholar
• Shelburne SA , McLaughlinCW. Coincidental adenomas of islets cells, parathyroid gland and pituitary. J. Clin. Endocrinol.5, 232 (1945).
   Web of Science ®Google Scholar
• Underdahl LO , WoolnerB, BlackBM. Multiple endocrine adenomas: report of six cases in which the parathyroids, pituitary and pancreatic islets were involved. J. Clin. Endocrinol.13, 20 (1953).
   Web of Science ®Google Scholar
• Wermer P . Genetic aspects of adenomatosis of endocrine glands. Am. J. Med.16, 363–371 (1954).
   PubMed Web of Science ®Google Scholar
• Croisier JC , AzeradE, LubetzkiJ. Polyendocrine adenomatosis (Wermer’s syndrome) apropos of a personal case. Review of the literature. Sem. Hop.47, 494–525 (1971).
   PubMedGoogle Scholar
• Lips KJ , Van derSluys VeerJ, StruyvenbergAGeerdinkRAet al. Geneticpredisposition to cancer in man. Advantages and problems of centralregistration and screening of families at risk. Am. J. Med.73(3), 305–307 (1982).
   PubMed Web of Science ®Google Scholar
• Chandrasekharappa SC , GuruSC, ManickamPet al. Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science276(5311), 404–407 (1997).
   PubMed Web of Science ®Google Scholar
• Lemmens I , Van de VenWJ, KasKet al. Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1. Hum. Mol. Genet.6, 1177–1183 (1997).
   PubMed Web of Science ®Google Scholar
• Dreijerink KM , HöppenerJW, TimmersHM, LipsCJ. Mechanisms of disease: multiple endocrine neoplasia type 1-relation to chromatin modifications and transcription regulation. Nat. Clin. Pract. Endocrinol. Metab.2(10), 562–570 (2006).
   PubMedGoogle Scholar
• Wilkinson S , TehBT, DaveyKR, McArdleJP, YoungM, ShepherdJJ. Cause of death in multiple endocrine neoplasia type 1. Arch. Surg.128(6), 683–690 (1993).
   PubMedGoogle Scholar
• Doherty GM , OlsonJA, FrisellaMM, LairmoreTC, WellsSAJr, NortonJA. Lethality of multiple endocrine neoplasia type I. World J. Surg.22(6), 581–586; discussion 586–587 (1998).
   PubMed Web of Science ®Google Scholar
• Lairmore TC1 , PiersallLD, DeBenedettiMKet al. Clinical genetic testing and early surgical intervention in patients with multiple endocrine neoplasia type 1 (MEN1). Ann. Surg.239(5), 637–645; discussion 645–647 (2004).
   PubMed Web of Science ®Google Scholar
• Geerdink EA1 , Van der LuijtRB, LipsCJ. Do patients with multiple endocrine neoplasia syndrome type 1 benefit from periodical screening?Eur. J. Endocrinol.149(6), 577–582 (2003).
   PubMed Web of Science ®Google Scholar
• Niina Y , FujimoriN, NakamuraTet al. The current strategy for managing pancreatic neuroendocrine tumors in multiple endocrine neoplasia type 1. Gut Liver6(3), 287–294 (2012).
   PubMed Web of Science ®Google Scholar
• Tonelli F , GiudiciF, NesiG, BatignaniG, BrandiML. Biliary tree gastrinomas in multiple endocrine neoplasia type 1 syndrome. World J. Gastroenterol.19(45), 8312–8320 (2013).
   PubMed Web of Science ®Google Scholar
• Gonçalves TD , ToledoRA, SekiyaTet al. Penetrance of functioning and nonfunctioning pancreatic neuroendocrine tumors in multiple endocrine neoplasia type 1 in the second decade of life. J. Clin. Endocrinol. Metab.99(1), E89–E96 (2014).
   PubMed Web of Science ®Google Scholar
• Faggiano A , FerollaP, GrimaldiFet al. Natural history of gastro-entero-pancreatic and thoracic neuroendocrine tumors. Data from a large prospective and retrospective Italian epidemiological study: the NET management study. J. Endocrinol. Invest.35(9), 817–823 (2012).
   PubMed Web of Science ®Google Scholar
• Vergès B1 , BoureilleF, GoudetPet al. Pituitary disease in MEN type 1 (MEN1): data from the France–Belgium MEN1 multicenter study. J. Clin. Endocrinol. Metab.87(2), 457–465 (2002).
   PubMed Web of Science ®Google Scholar
• Goudet P , MuratA, BinquetCet 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.34(2), 249–255 (2010).
   PubMed Web of Science ®Google Scholar
• Lemos MC , ThakkerRV. Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene. Hum. Mutat.29(1), 22–32 (2008).
   PubMed Web of Science ®Google Scholar
• Hannan FM , NesbitMA, ChristiePTet al. Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene. Nat. Clin. Pract. Endocrinol. Metab.4(1), 53–58 (2008).
   PubMedGoogle Scholar
• Ullmann U , UnuaneD, VelkeniersB, LissensW, WuytsW, BonduelleM. A new double substitution mutation in the MEN1 gene: a limited penetrance and a specific phenotype. Eur. J. Hum. Genet.21(6), 695–697 (2013).
   PubMed Web of Science ®Google Scholar
• Brandi ML , GagelRF, AngeliAet al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J. Clin. Endocrinol. Metab.86(12), 5658–5671 (2001).
   PubMed Web of Science ®Google Scholar
• Thakker RV , NeweyPJ, WallsGVet al. Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). Endocrine Society. J. Clin. Endocrinol. Metab.97(9), 2990–3011 (2012).
   PubMed Web of Science ®Google Scholar
• Drori-Herishanu L , HorvathA, NesterovaMet al. An Intronic mutation is associated with prolactinoma in a young boy, decreased penetrance in his large family, and variable effects on MEN1 mRNA and protein. Horm. Metab. Res.41(8), 630–634 (2009).
   PubMed Web of Science ®Google Scholar
• Ito T , IgarashiH, UeharaH, BernaMJ, JensenRT. Causes of death and prognostic factors in multiple endocrine neoplasia type 1: a prospective study: comparison of 106 MEN1/Zollinger-Ellison syndrome patients with 1613 literature MEN1 patients with or without pancreatic endocrine tumors. Medicine (Baltimore)92(3), 135–181 (2013).
   PubMed Web of Science ®Google Scholar
• Roijers JF , de WitMJ, van der LuijtRB, Ploos van AmstelHK, HöppenerJW, LipsCJ. Criteria for mutation analysis in MEN1-suspected patients: MEN1 case-finding. Eur. J. Clin. Invest.30(6), 487–492 (2000).
   PubMed Web of Science ®Google Scholar
• Raef H , ZouM, BaiteiEYet al. A novel deletion of the MEN1 gene in a large family of multiple endocrine neoplasia type 1 (MEN1) with aggressive phenotype. Clin. Endocrinol. (Oxf.)75(6), 791–800 (2011).
   PubMed Web of Science ®Google Scholar
• Lee M , PellegataNS. Multiple endocrine neoplasia syndromes associated with mutation of p27. Multiple endocrine neoplasia syndromes associated with mutation of p27. J. Endocrinol. Invest.36(9), 781–787 (2013).
   PubMed Web of Science ®Google Scholar
• Eisenberg AA , WallersteinH. Pheochromocytoma of the suprarenal medullar (paraganglioma): a clinicopathologic study. Arch. Pathol.14, 818 (1932).
   Google Scholar
• DeCourcy JL , DeCourcyCB. Pheochromocytoma and the general practitioner.Barclay Newman, Cincinatti, OH, USA, 163 (1952).
   Google Scholar
• Hazard JW , HawkWA, CrileGJr. Medullary (solid) carcinoma of the thyroid – a clinicopathhologic entity. J. Clin. Endocrinol. Metab.19, 152 (1959).
   PubMed Web of Science ®Google Scholar
• Sipple JH . The association of pheochromocytoma with carcinoma of the thyroid gland. Am. J. Med.31, 163 (1961).
   Web of Science ®Google Scholar
• Copp DH , CameronEC, CheneyBA, DavidsonAG, HenzeKG. Evidence for calcitonin – a new hormone from the parathyroid that lowers blood calcium. Endocrinology70, 638–649 (1962).
   PubMed Web of Science ®Google Scholar
• Cushman P Jr . Familial endocrine tumours: report of two unrelated kindreds affected with pheochromocytomas, one also with multiple thyroid carcinomas. Am. J. Med.32, 352 (1962).
   PubMed Web of Science ®Google Scholar
• Williams ED . A review of 17 cases of carcinoma of the thyroid and pheochromocytoma. J. Clin. Pathol.18, 288 (1965).
   PubMed Web of Science ®Google Scholar
• Williams ED , PollockDJ. Multiple mucosal neuromas with endocrine tumours, a syndrome allied to von Recklinghausen’s disease. J. Pathol. Bacteriol.91, 71 (1966).
   PubMedGoogle Scholar
• Schimke RN , HartmannWH, ProutTEet al. Syndrome of bilateral pheochromocytoma, medullary thyroid carcinoma and multiple neuromas. A possible regulatory defect in the differentiation of chromaffin tissue. N. Engl. J. Med.279(1), 1–7 (1968).
   PubMed Web of Science ®Google Scholar
• Le Douarin N , Le LièvreC. Demonstration of neural origin of calcitonin cells of ultimobranchial body of chick embryo. C R Acad. Sci. Hebd Seances Acad. Sci. D.270(23), 2857–2860 (1970).
   PubMedGoogle Scholar
• Lips CJ , MinderWH, LeoJR, AllemanA, HackengWH. Evidence of multicentric origin of multiple endocrine neoplasia syndrome type 2A (Sipple’s syndrome) in a large family in The Netherlands. Am. J. Med.64, 569–578 (1978).
   PubMed Web of Science ®Google Scholar
• Pearse AG . The cytochemistry and ultrastructure of polypeptide hormone-producing cells of the APUD series and the embryologic, physiologic and pathologic implications of the concept. J. Histochem. Cytochem.17(5), 303–313 (1969).
   PubMed Web of Science ®Google Scholar
• Wells SA Jr , OntjesDA, CooperCWet al. The early diagnosis of medullary carcinoma of the thyroid gland in patients with multiple endocrine neoplasia type II. Ann. Surg.182(4), 362–370 (1975).
   PubMed Web of Science ®Google Scholar
• Wells SA Jr , BaylinSB, LinehanWM, FarrellRE, CoxEB, CooperCW. Provocative agents and the diagnosis of medullary carcinoma of the thyroid gland. Ann. Surg.188(2), 139–141 (1978).
   PubMed Web of Science ®Google Scholar
• Mathew CG , ChinKS, EastonDFet al. A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10. Nature328(6130), 527–528 (1987).
   PubMed Web of Science ®Google Scholar
• Mulligan LM , KwokJB, HealeyCSet al. Germline mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature363(6428), 458–460 (1993).
   PubMed Web of Science ®Google Scholar
• van Veelen W , van GasterenCJ, ActonDSet al. Synergistic effect of oncogenic RET and loss of p18 on medullary thyroid carcinoma development. Cancer Res.68(5), 1329–1337 (2008).
   PubMed Web of Science ®Google Scholar
• Lips CJ , LandsvaterRM, HöppenerJWet al. Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A. N. Engl. J. Med.331(13), 828–835 (1994).
   PubMed Web of Science ®Google Scholar
• Moers AM , LandsvaterRM, SchaapCet al. Familial medullary thyroid carcinoma: not a distinct entity? Genotype–phenotype correlation in a large family. Am. J. Med.101(6), 635–641 (1996).
   PubMed Web of Science ®Google Scholar
• Moore SW , ZaahlM. Familial associations in medullary thyroid carcinoma with Hirschsprung disease: the role of the RET-C620 “Janus” genetic variation. J. Pediatr. Surg.45(2), 393–396 (2010).
   PubMed Web of Science ®Google Scholar
• Rowland KJ , ChernockRD, MoleyJF. Pheochromocytoma in an 8-year-old patient with multiple endocrine neoplasia type 2A: implications for screening. J. Surg. Oncol.108(4), 203–206 (2013).
   PubMed Web of Science ®Google Scholar
• Toledo SP , LourençoDMJr, SantosMA, TavaresMR, ToledoRA, Correia-DeurJE. Hypercalcitoninemia is not pathognomonic of medullary thyroid carcinoma. Clinics (Sao Paulo)64(7), 699–706 (2009).
   PubMed Web of Science ®Google Scholar
• Boichard A , CrouxL, Al GhuzlanAet al. Somatic RAS mutations occur in a large proportion of sporadic RET-negative medullary thyroid carcinomas and extend to a previously unidentified exon. J. Clin. Endocrinol. Metab.97(10), E2031–E2035 (2012).
   PubMed Web of Science ®Google Scholar
• Degrauwe N1 , SosaJA, RomanS, DeshpandeHA. Vandetanib for the treatment of metastatic medullary thyroid cancer. Clin. Med. Insights Oncol.6, 243–252 (2012).
   PubMedGoogle Scholar
• Fox E , WidemannBC, ChukMKet al. Vandetanib in children and adolescents with multiple endocrine neoplasia type 2B associated medullary thyroid carcinoma. Clin. Cancer Res.19(15), 4239–4248 (2013).
   PubMed Web of Science ®Google Scholar
• Mologni L , RedaelliS, MorandiA, Plaza-MenachoI, Gambacorti-PasseriniC. Ponatinib is a potent inhibitor of wild-type and drug-resistant gatekeeper mutant RET kinase. Mol. Cell. Endocrinol.377(1–2), 1–6 (2013).
   PubMed Web of Science ®Google Scholar
• Lips CJ , HöppenerJW. Ethics: Genetic testing for MEN1 – whose responsibility?Nat. Rev. Endocrinol.8, 575–576 (2012).
   PubMed Web of Science ®Google Scholar
• Grosfeld FJ , LipsCJ, BeemerFAet al. Distress in MEN 2 family members and partners prior to DNA test disclosure. Multiple endocrine neoplasia type 2. Am. J. Med. Genet.91(1), 1–7 (2000).
   PubMedGoogle Scholar
• Grosfeld FJ , BeemerFA, LipsCJ, HendriksKS, ten KroodeHF. Parents’ responses to disclosure of genetic test results of their children. Am. J. Med. Genet.94(4), 316–323 (2000).
   PubMed Web of Science ®Google Scholar
• Kebebew E , GreenspanFS, ClarkOH, WoeberKA, GrunwellJ. Extent of disease and practice patterns for medullary thyroid cancer. J. Am. Coll. Surg.200, 890–896 (2005).
   PubMed Web of Science ®Google Scholar