A novel MEN1 pathogenic variant in an Italian patient with multiple endocrine neoplasia type 1
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A novel MEN1 pathogenic variant in an Italian patient with multiple endocrine neoplasia type 1 Andrea Corsello1 · Carmine Bruno1 · Roberta Rizza2 · Paola Concolino2 · Giampaolo Papi1 · Alfredo Pontecorvi1 · Guido Rindi3,4 · Rosa Maria Paragliola1 Received: 4 April 2020 / Revised: 4 August 2020 / Accepted: 13 August 2020 © Springer Nature B.V. 2020
Abstract The multiple endocrine neoplasia type 1 (MEN1) is a rare syndrome characterized by the predisposition to developing multiple endocrine and non-endocrine tumors, typically characterized by the association between parathyroid gland hyperplasia or tumors, gastroenteropancreatic tumors and pituitary adenomas. The MEN1 gene is located on the long arm of chromosome 11 (11q13) and it encodes for the protein “menin”. We here reported the case of a MEN1-patient, affected by primary hyperparathyroidism, insulinoma, pituitary non-hyperfunctioning adenoma and bilateral adrenal masses, carrying a novel heterozygous pathogenic variant (c.1252_1254delGACinsAT), located in exon 9 of MEN1 gene. Keywords MEN1 · Menin · Primary hyperparathyroidism · Insulinoma
Introduction The multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant tumor syndrome characterized by the predisposition to developing multiple endocrine and non-endocrine tumors [1]. This condition is typically characterized by the association between parathyroid gland hyperplasia or tumors (more frequently adenomas), The authors Andrea Corsello and Carmine Bruno have equally contributed to this paper. * Rosa Maria Paragliola [email protected] 1
Endocrinology, Università Cattolica del Sacro Cuore, Fondazione Policlinico “Gemelli” IRCCS, Largo Gemelli 8, 00168 Rome, Italy
2
Institute of Biochemistry and Clinical Biochemistry, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma Largo Gemelli 8, 00168 Rome, Italy
3
Section of Anatomic Pathology, Dipartimento di Scienze della Vita e di Sanità Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy
4
Section of Anatomic Pathology, Dipartimento di Scienze della Salute della Donna, del Bambino e di Sanità Pubblica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma Largo A. Gemelli 8, 00168 Rome, Italy
gastroenteropancreatic tumors and pituitary adenomas occurring in up to 95%, 70% and 40% of cases, respectively [2]. Other endocrine and non-endocrine tumors found with increased frequency are thymic or bronchial carcinoids, adrenocortical tumors, meningiomas, ependymomas, schwannomas, angiofibromas and leiomyomas [3]. The clinical phenotype is therefore heterogeneous both for the variable penetrance of the disease and for the possible influences due to gene-environment interactions. The gene causing MEN1, the MEN1 gene, is located on the long arm of chromosome 11 (11q13) and it encodes for the protein “menin”, a scaffold protein with tumor suppressor functions. Pathogenic variants of MEN1 usually have a truncating effect on menin, with loss of the tum
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