Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database

Abstract

Objective The aim of this study was to integrate European epidemiological data on patients with multiple endocrine neoplasia type 1 by creating an Italian registry of this syndrome, including clinical and genetic characteristics and therapeutic management. Methods Clinical, familial and genetic data of patients with multiple endocrine neoplasia type 1, diagnosed, treated, and followed-up for a mean time of 11.3 years, in 14 Italian referral endocrinological centers, were collected, over a 3-year course (2011)(2012)(2013)

The future: genetics advances in MEN1 therapeutic approaches and management strategies

“…Follow-up studies could be conducted to verify this observation in other large cohorts of MEN1 patients such as in the GTE, Italian, and Japanese database of MEN1 (Giusti et al 2017; Sakurai et al 2012; Thevenon, et al 2015). Also, mouse models of Men1 loss could help to elucidate whether menin loss alone or other factors contribute to this phenotype.…”

“…Germline heterozygous mutations in the MEN1 gene are observed in 70–90% of familial MEN1 cases and the frequency of finding a de novo mutation is significantly lower in sporadic MEN1 cases (Agarwal, et al 1997; Bassett, et al 1998; Cardinal, et al 2005; Cebrian, et al 2003; de Laat, et al 2016; Giraud, et al 1998; Giusti, et al 2017; Klein, et al 2005; Sakurai, et al 2012; Tham, et al 2007). Over 1200 germline mutations in the MEN1 gene have been reported with no obvious genotype-phenotype correlation of specific mutations with the MEN1-associated tumor spectrum even among family members with the exact same mutation.…”

The future: diagnostic and imaging advances in MEN1 therapeutic approaches and management strategies

“…Current expert practice guidelines 24:10 (Thakker et al 2012) and the majority of groups (Karges et al 2000, Waldmann et al 2009, Goudet et al 2015, Giusti et al 2017 recommend annual routine screening of MEN1 patients. Some observational studies, however, suggest an extension of screening intervals up to 2 or 3 years, if no serious organ manifestations were detected at the initial screening visit, since rapid progression of organ manifestations is rarely observed (Kann et al 2006a, Waldmann et al 2009).…”

Children with MEN1 gene mutations may present first (and at a young age) with Cushing disease

“…MEN1 is diagnosed on a clinical basis, when a patient is found to have two of the three main MEN1‐related endocrine tumours (parathyroid adenomas, entero‐pancreatic endocrine tumours, and pituitary tumour); on a familial basis, when a patient has one MEN1‐associated tumour and an affected first‐degree relative; and finally on a genetic basis, when an individual has an MEN1 pathogenic mutation . Other neoplasms associated with MEN1 include neuroendocrine and adrenocortical tumours, facial angiofibromas, collagenomas, lipomas, meningiomas, ependymomas and leiomyomas …”

“…3,4 Other neoplasms associated with MEN1 include neuroendocrine and adrenocortical tumours, facial angiofibromas, collagenomas, lipomas, meningiomas, ependymomas and leiomyomas. 3,5 The prevalence of pituitary tumours in MEN1 varies widely from 10% to 60%, with pituitary tumours presenting as the first clinical manifestation of MEN1 in 25% of sporadic and 10% of familial cases. 6,7 ACTH-secreting tumours are generally rare in MEN1, representing only approximately 2% of cases.…”