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Multiple Endocrine Neoplasia Type 1

Molecular Diagnosis and Clinical Implications

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Polyendocrine Disorders and Endocrine Neoplastic Syndromes

Part of the book series: Endocrinology ((ENDOCR))

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Abstract

The Multiple Endocrine Neoplasia (MEN1) is an autosomal dominant disease due to mutation in the MEN1 gene. MEN1, described by Paul Wermer in 1954, is characterized by a broad spectrum of clinical manifestations from which the tree cardinal lesions are primary hyperparathyroidism, pituitary adenomas, and neuroendocrine tumors. MEN1 is a life-threatening disease, because duodeno-pancreatic and thymic tumors may turn into aggressive neuroendocrine cancers without early detection.

The identification of the MEN1 gene in 1997 has modified the landscape of MEN1 diagnosis and disease. The identification of a MEN1 mutation in a young patient with an isolated lesion allows now rapid confirmation of the clinical suspicion. Consequently, the patients are identified as at risk for developing other MEN1- lesions and should be offered a program of combined clinical, biochemical, and radiological screening, according to clinical practice guidelines. Furthermore, the identification of MEN1 mutation in relatives is considered as a predictive test for developing MEN1 lesions. Such family members have therefore access to a screening program, specific to the MEN1 disease. Conversely, the family members who do not harbor the familial MEN1 mutation and their progeny can be reassured and avoid the anxiety provided before by the uncertainty of the appearance or not of MEN1 lesions.

Nevertheless, the pitfalls of genetic testing and the difficulties in the interpretation of MEN1 variants are the new challenges in 2018. Concerted efforts between geneticists and physicians have to be undertaken to resolve the interpretation of allelic variants of uncertain significance.

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Authors and Affiliations

  1. Aix Marseille Univ, APHM, INSERM, MMG, Conception Hospital, Laboratory of Molecular Biology, Faculte Medecine TIMONE, Marseille, France

    Pauline Romanet & Anne Barlier

  2. Department of Endocrine Surgery/INSERM, U866, Epidemiology and Clinical Research in Digestive Oncology Team/ INSERM, CIC1432, Clinical Epidemiology Unit, Clinical Investigation Center, Clinical Epidemiology/Clinical Trials Unit, University Hospital of Dijon, Hopital Francois Mitterand, Dijon, France

    Pierre Goudet

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Correspondence to Anne Barlier .

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Editors and Affiliations

  1. Neuroendocrine Unit, University of Naples Federico II Neuroendocrine Unit, Naples, Italy

    Annamaria Colao

  2. Dept. Experimental Medicine, University of L'Aquila Dept. Experimental Medicine, L'Aquila, Italy

    Marie-Lise Jaffrain-Rea

  3. Department of Endocrinology, Centre Hospitalier Universitaire de Lièg Department of Endocrinology, Liège, Belgium

    Albert Beckers

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Romanet, P., Goudet, P., Barlier, A. (2019). Multiple Endocrine Neoplasia Type 1. In: Colao, A., Jaffrain-Rea, ML., Beckers, A. (eds) Polyendocrine Disorders and Endocrine Neoplastic Syndromes. Endocrinology. Springer, Cham. https://doi.org/10.1007/978-3-319-73082-0_8-1

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