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Multiple Endocrine Neoplasia Type 4 (MEN4)

  • Living reference work entry
  • First Online:
Encyclopedia of Pathology

Part of the book series: Encyclopedia of Pathology ((EP))

  • 53 Accesses

Synonyms

MENX; MEN1-like syndrome

Definition

Multiple endocrine neoplasia type 4 (MEN4) is a very rare syndrome caused by mutations in CDKN1B (chromosome 12) and is inherited in an autosomal dominant fashion with incomplete penetrance. CDKN1B encodes for p27, a protein which functions as a part of a complex to regulate cell cycle progression. Originally discovered in murine models, MEN4 was officially accepted as a novel disease process affecting humans in 2008. Patients affected by MEN4 have been reported to most commonly develop parathyroid proliferations and neuroendocrine tumors of the pituitary, gastrointestinal tract, and pancreas, among others.

Clinical Features

  • Incidence

    As MEN4 is only relatively recently described, the incidence and prevalence are not entirely known; however, it is generally accepted that MEN4 is a very rare disorder. Currently, less than 20 confirmed cases have been reported in the literature, although a number of studies have described patients with an...

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References and Further Reading

  • Agarwal, S. K., Mateo, C. M., & Marx, S. J. (2009). Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states. Journal of Clinical Endocrinology and Metabolism, 94, 1826–1834.

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  • Alevizaki, M., & Stratakis, C. A. (2009). Multiple endocrine neoplasias: Advances and challenges for the future. Journal of Internal Medicine, 266, 1–4.

    Article  CAS  Google Scholar 

  • Alrezk, R., Hannah-Shmouni, F., & Stratakis, C. A. (2017). MEN4 and CDKN1B mutations: The latest of the MEN syndromes. Endocrine Related Cancer, 24, T195–T208.

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  • de Laat, J. M., van der Luijt, R. B., Pieterman, C. R., Oostveen, M. P., Hermus, A. R., Dekkers, O. M., de Herder, W. W., van der Horst-Schrivers, A. N., Drent, M. L., Bisschop, P. H., Havekes, B., Vriens, M. R., & Valk, G. D. (2016). MEN1 redefined, a clinical comparison of mutation-positive and mutation-negative patients. BMC Medicine, 14, 182.

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  • Duan, K., & Mete, O. (2017). Hereditary endocrine tumor syndromes: The clinical and predictive role of molecular histopathology. AJSP: Reviews & Reports, 22, 246–268.

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  • Franklin, D. S., Godfrey, V. L., O’Brien, D. A., Deng, C., & Xiong, Y. (2000). Functional collaboration between different cyclin-dependent kinase inhibitors suppresses tumor growth with distinct tissue specificity. Molecular and Cellular Biology, 20, 6147–6158.

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  • Fritz, A., Walch, A., Piotrowska, K., Rosemann, M., Schaffer, E., Weber, K., Timper, A., Wildner, G., Graw, J., Hofler, H., & Atkinson, M. J. (2002). Recessive transmission of a multiple endocrine neoplasia syndrome in the rat. Cancer Research, 62, 3048–3051.

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

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  • Molatore, S., Marinoni, I., Lee, M., Pulz, E., Ambrosio, M. R., degli Uberti, E. C., Zatelli, M. C., & Pellegata, N. S. (2010). A novel germline CDKN1B mutation causing multiple endocrine tumors: Clinical, genetic and functional characterization. Human Mutation, 31, E1825–E1835.

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  • Pellegata, N. S., Quintanilla-Martinez, L., Siggelkow, H., Samson, E., Bink, K., Hofler, H., Fend, F., Graw, J., & Atkinson, M. J. (2006). Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. Proceedings of the National Academy of Sciences of the United States of America, 103, 15558–15563.

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Author information

Authors and Affiliations

  1. Department of Laboratory Medicine and Pathobiology, Faculty of Medicine, University of Toronto, Toronto, ON, Canada

    Anjelica Hodgson, Sara Pakbaz & Ozgur Mete

  2. Department of Pathology, University Health Network, Toronto, ON, Canada

    Anjelica Hodgson, Sara Pakbaz & Ozgur Mete

  3. Endocrine Oncology Site, The Princess Margaret Cancer Centre, Toronto, ON, Canada

    Ozgur Mete

Authors
  1. Anjelica Hodgson
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  2. Sara Pakbaz
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  3. Ozgur Mete
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Corresponding author

Correspondence to Ozgur Mete .

Editor information

Editors and Affiliations

  1. NIJMEGEN, The Netherlands

    J.H.J.M. van Krieken

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Hodgson, A., Pakbaz, S., Mete, O. (2020). Multiple Endocrine Neoplasia Type 4 (MEN4). In: van Krieken, J. (eds) Encyclopedia of Pathology. Encyclopedia of Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-28845-1_5225-1

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  • DOI: https://doi.org/10.1007/978-3-319-28845-1_5225-1

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-28845-1

  • Online ISBN: 978-3-319-28845-1

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