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Multiple Endocrine Neoplasia Syndromes

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Atlas of Genetic Diagnosis and Counseling
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Abstract

The multiple endocrine neoplasia (MEN) syndromes are rare autosomal dominant conditions predisposing affected individuals to benign and malignant tumors of the pituitary, thyroid, parathyroid, adrenal, endocrine, pancreas, paraganglion, or nonendocrine organs. The classic MEN syndromes include MEN type 1 (MEN1) and MEN type 2 (MEN2). The prevalence of MEN1 is estimated to be 1 in 20,000–40,000 individuals and that of MEN2 is estimated to be 1 in 35,000 individuals (DeLellis et al. 2004).

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References

  • American Thyroid Association Guidelines Task Force, Kloos, R. T., Eng, C., Evans, D. B., et al. (2009). Medullary thyroid cancer: Management guidelines of the American Thyroid Association. Thyroid, 19, 565–612.

    Article  Google Scholar 

  • Brandi, M. L., Gagel, R. F., Angeli, A., et al. (2001). Guidelines for diagnosis and therapy of MEN type 1 and type 2. Journal of Clinical Endocrinology and Metabolism, 86, 5658–5671.

    Article  CAS  PubMed  Google Scholar 

  • Brenner, M. E., & Jacene, H. A. (2008). Recurrent or residual hyperparathyroidism and thyroid cancer effectively evaluated with scintigraphy. Otolaryngologic Clinics of North America, 41, 1117–1133.

    Article  PubMed  Google Scholar 

  • Callender, G. G., Rich, T. A., & Perrier, N. D. (2008). Multiple endocrine neoplasia syndromes [Review]. Surgical Clinics of North America, 88, 863–895.

    Article  PubMed  Google Scholar 

  • Da Silva, A. M., Maciel, R. M., Da Silva, M. R., et al. (2003). A novel germ-line point mutation in RET exon 8 (Gly(533)Cys) in a large kindred with familial medullary thyroid carcinoma. Journal of Clinical Endocrinology and Metabolism, 88, 5438–5443.

    Article  PubMed  Google Scholar 

  • Dean, P. G., van Heerden, J. A., Farley, D. R., et al. (2000). Are patients with multiple endocrine neoplasia type 1 prone to premature death? World Journal of Surgery, 24, 1437–1441.

    Article  CAS  PubMed  Google Scholar 

  • DeLellis, R. A., Lloyd, R. V., Heitz, P. U., et al. (2004). Pathology and genetics: Tumours of the endocrine organs. In P. Kleihues & L. H. Sobin (Eds.), World Health Organization classification of tumours (Vol. 10, p. 257). Lyon: IARC Press.

    Google Scholar 

  • Diaz-Thomas, A. (2014). Pediatric multiple endocrine neoplasia. Medscape Reference. Updated 22 Aug 2014. Available at: http://emedicine.medscape.com/article/923269-overview

  • Doherty, G. M. (2005). Multiple endocrine neoplasia type 1. Journal of Surgical Oncology, 89(2005), 143–150.

    Article  PubMed  Google Scholar 

  • Doherty, G. M., Olson, J. A., Frisella, M. M., et al. (1998). Lethality of multiple endocrine neoplasia type I. World Journal of Surgery, 22, 581–586.

    Article  CAS  PubMed  Google Scholar 

  • Dvorakova, S., Vaclavikova, E., Duskova, J., et al. (2005). Exon 5 of the RET proto-oncogene: A newly detected risk exon for familial medullary thyroid carcinoma, a novel germ-line mutation Gly321Arg. Journal of Endocrinological Investigation, 28, 905–909.

    Article  CAS  PubMed  Google Scholar 

  • Eng, C., Clayton, D., Schuffenecker, I., et al. (1996). The relationship between specific ret proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2: International RET mutation consortium analysis. Journal of the American Medical Association, 276, 1575–1579.

    Article  CAS  PubMed  Google Scholar 

  • Falchetti, A., Marini, F., Luzi, E., et al. (2008). Multiple endocrine neoplasms [Review]. Best Practice & Research. Clinical Rheumatology, 22, 149–163.

    Article  CAS  Google Scholar 

  • Gagel, R. F., & Marx, S. J. (2007). Multiple endocrine neoplasia. In P. R. Larsen, H. Kronenburg, S. Melmed, & K. Polonsky (Eds.), Williams textbook of endocrinology (11th ed.). Orlando: W. B. Saunders & Company, November (Section X, Chapter 40).

    Google Scholar 

  • Gimm, O., Marsh, D. J., Andrew, S. D., et al. (1997). Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation. Journal of Clinical Endocrinology and Metabolism, 82, 3902–3904.

    Article  CAS  PubMed  Google Scholar 

  • Giusti, f., Marini, F., & Brandi, M. L. (2015). Multiple endocrine neoplasia type 1. Updated 12 Feb 2015. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1538/

  • Grajo, J. R., Paspulati, R. M., Sahani, D. V., et al. (2016). Multiple endocrine neoplasia syndromes. A comprehensive imaging review. Radiologic Clinics of North America, 54, 441–451.

    Article  PubMed  Google Scholar 

  • Hoff, A. O., Cote, G. J., & Gagel, R. F. (2000). Multiple endocrine neoplasias. Annual Review of Physiology, 62, 377–411.

    Article  CAS  PubMed  Google Scholar 

  • Krampitz, G. W., & Norton, J. A. (2014). RET gene mutations (genotype and phenotype) of multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma. Cancer, 120, 1920–1931.

    Article  CAS  PubMed  Google Scholar 

  • Lee, M., & Pellegata, N. S. (2013a). Multiple endocrine neoplasia syndromes associated with mutation of p27. Journal of Endocrinological Investigation, 36, 781–787.

    CAS  PubMed  Google Scholar 

  • Lee, M., & Pellegata, N. S. (2013b). Multiple endocrine neoplasia type 4. Frontiers of Hormone Research, 41, 63–78.

    Article  CAS  PubMed  Google Scholar 

  • Lewis, C. E., & Yeh, M. W. (2008). Inherited endocrinopathies: An update [Minireview]. Molecular Genetics and Metabolism, 94, 271–282.

    Article  CAS  PubMed  Google Scholar 

  • Lips, C. J., Landsvater, R. M., Hoppener, J. W., et al. (1994). Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type2A. The New England Journal of Medicine, 331, 828–835.

    Article  CAS  PubMed  Google Scholar 

  • Machens, A., Niccoli-Sire, P., Hoegel, J., et al. (2003). Early malignant progression of hereditary medullary thyroid cancer. The New England Journal of Medicine, 349, 1517–1525.

    Article  CAS  PubMed  Google Scholar 

  • Marini, F., Falehetti, A., Del Monte, F., et al. (2006a). Multiple endocrine neoplasia type I. Orphanet Journal of Rare Diseases, 1, 38–46.

    Article  PubMed  PubMed Central  Google Scholar 

  • Marini, F., Falchetti, A., Del Monte, F., et al. (2006b). Multiple endocrine neoplasia type 2 [Review]. Orphanet Journal of Rare Diseases, 1, 45–50.

    Article  PubMed  PubMed Central  Google Scholar 

  • Marinoni, I., & Pellegata, N. S. (2011). p27kip1: A new multiple endocrine neoplasia gene? Neuroendocrinology, 93, 19–28.

    Article  CAS  PubMed  Google Scholar 

  • Marquard, M. S., & Eng, C. (2015). Multiple endocrine neoplasia type 2. GeneReviews. Updated 25 June 2015. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1257/

  • Molatore, S., & Pellegata, N. S. (2010). The MENX syndrome and p27: Relationships with multiple endocrine neoplasia. Progress in Brain Research, 182, 295–320.

    Article  CAS  PubMed  Google Scholar 

  • Moline, J., & Eng, C. (2010). Multiple endocrine neoplasia type 2. GeneReviews. Updated 4 May 2010. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1257/

  • Mulligan, L. M., Eng, C., Healey, C. S., et al. (1994). Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nature Genetics, 6, 70–74.

    Article  CAS  PubMed  Google Scholar 

  • Mulligan, L. M., Marsh, D. J., Robinson, B. G., et al. (1995). Genotype-phenotype correlation in multiple endocrine neoplasia type 2: Report of the International RET Mutation Consortium. Journal of Internal Medicine, 238, 343–346.

    Article  CAS  PubMed  Google Scholar 

  • O’Riordain, D. S., O’Brien, T., Weaver, A. L., et al. (1994). Medullary thyroid carcinoma in multiple endocrine neoplasia types 2A and 2B. Surgery, 116, 1017–1023.

    PubMed  Google Scholar 

  • Pack, S., Turner, M. L., Zhuang, Z., et al. (1998). Cutaneous tumors in patients with multiple endocrine neoplasia type 1 show allelic deletion of the MEN1 gene. The Journal of Investigative Dermatology, 110, 438–440.

    Article  CAS  PubMed  Google Scholar 

  • Pellegata, N. S. (2012). MENX and MEN4. Clinics, 67, 13–18.

    Article  PubMed  PubMed Central  Google Scholar 

  • Pellegata, N. S., Quintanilla-Martinez, L., Siggelkow, H., et al. (2006). Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. Proceedings of National Academy of Sciences of United States of America, 103, 15558–15563.

    Article  CAS  Google Scholar 

  • Raue, F., & Frank-Raue, K. (2012). Genotype-phenotype correlation in multiple endocrine neoplasia type 2. Clinics, 67(S1), 69–75.

    Article  PubMed  PubMed Central  Google Scholar 

  • Richards, M. L. (2015). Multiple endocrine neoplasia, type 2. Medscape Reference. Updated 11 Dec 2015. Available at: http://emedicine.medscape.com/article/123447-overview

  • Romei, C., Pardi, E., Cetani, F., et al. (2012). Genetic and clinical features of multiple endocrine neoplasia types 1 and 2. Journal of Oncology, 2012, 1915.

    Article  Google Scholar 

  • Santoro, M., Carlomagno, F., Melillo, R. M., et al. (2004). Dysfunction of the RET receptor in human cancer. Cellular and Molecular Life Sciences, 61, 2954–2964.

    Article  CAS  PubMed  Google Scholar 

  • Schimke, R. N., Hartmann, W. H., Prout, T. E., et al. (1968). Syndrome of bilateral pheochromocytoma, medullary thyroid carcinoma and multiple neuromas. A possible regulatory defect in the differentiation of chromaffin tissue. The New England Journal of Medicine, 279, 1–7.

    Article  CAS  PubMed  Google Scholar 

  • Schuffenecker, I., Billaud, M., Calender, A., et al. (1994). RET proto-oncogene mutations in French MEN 2A and FMTC families. Human Molecular Genetics, 3, 1939–1943.

    Article  CAS  PubMed  Google Scholar 

  • Schussheim, D. H., Skarulis, M. C., Agarwal, S. K., et al. (2001). Multiple endocrine neoplasia type 1: New clinical and basic findings. Trends in Endocrinology and Metabolism, 12, 173–178.

    Article  CAS  PubMed  Google Scholar 

  • Thakker, R. V. (2001). Multiple endocrine neoplasia. Hormone Research, 56, 67–72.

    Article  CAS  PubMed  Google Scholar 

  • Thakker, R. V., Newey, P. J., Walls, G. V., et al. (2012). Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). Journal of Clinical Endocrinology and Metabolism, 97, 2990–3011.

    Article  CAS  PubMed  Google Scholar 

  • Vortmeyer, A. O., Böni, R., Pack, S. D., et al. (1999). Perivascular cells harboring multiple endocrine neoplasia type 1 alterations are neoplastic cells in angiofibromas. Cancer Research, 59, 274–278.

    CAS  PubMed  Google Scholar 

  • Wilkinson, S., Teh, B. T., Davey, K. R., et al. (1993). Cause of death in multiple endocrine neoplasia type 1. Archives of Surgery, 128, 683–690.

    Article  CAS  PubMed  Google Scholar 

  • Wray, C. J., Rich, T. A., Waguespack, S. G., et al. (2008). Failure to recognize multiple endocrine neoplasia 2B: More common than we think? Annals of Surgical Oncology, 15, 293–301.

    Article  PubMed  Google Scholar 

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Correspondence to Harold Chen .

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Chen, H. (2016). Multiple Endocrine Neoplasia Syndromes. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_168-2

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  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_168-2

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