Gene diagnosis and clinical management of multiple endocrine neoplasia type 1 (MEN1)

Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing

“…This is the largest cohort of subjects who have undergone diagnostic MEN1 mutation testing and the largest series of sporadic MEN1 cases ( n = 70). Mutations have now been reported in 94 (45%) of 209 sporadic cases (this study and previous publications 4,5,11–24 ). The likelihood of finding an MEN1 mutation depends on the clinical criteria of the patient, with increased likelihood of detection in those with more main tumours and a family history.…”

“…Recurrent insertion and deletion mutations at repetitive DNA sequences are found in 15 -25% of mutation-positive cases. [11][12][13] Based on studies in the literature which have investigated cohorts of 10 patients or more, 4,5,[11][12][13][14][15][16][17][18][19][20][21][22][23][24] the likelihood of finding an MEN1 gene mutation is estimated at 87% for familial cases (mutations found in 521/596 probands) and 52% for sporadic cases (72/139 had mutations).…”

“…Based on studies in the literature which have investigated cohorts of 10 patients or more, 4,5,11–24 the likelihood of finding an MEN1 gene mutation is estimated at 87% for familial cases (mutations found in 521/596 probands) and 52% for sporadic cases (72/139 had mutations).…”

MEN1 Gene Analysis in Patients with Primary Hyperparathyroidism: 10-year Experience of a Single Institution for Thyroid and Parathyroid Care in Japan

“…Men1 phenocopy has already been investigated by some institutions in Western countries and Japan [20,21,[26][27][28][29][30][31]. hai et al analyzed 12 Japanese patients having Men1 phenocopy and reported that 4 patients showed multiple enlarged glands and that no lesion other than primary hyperparathyroidism and ghsecreting pituitary tumor developed before 50 years of age [20,21,26]. sakurai et al showed that the mean age of Men1 phenocopy patients at diagnosis was 48 years of age, which did not significantly differ from that of probands of familial Men1 [28].…”

Efficient mutation detection in MEN1 gene using a combination of single‐strand conformation polymorphism (MDGA™) and heteroduplex analysis

“…The role of menin has not yet been fully elucidated; it is a nuclear protein which interacts with the AP1 transcription factor JunD [9] and other factors related to transcriptional regulation and cell cycle control as well as Smad3 [10]. Recommendations for MEN1 mutation testing are being developed in order to manage the diagnosis of this syndrome [11] in the hope that early disease recognition can prevent certain types of morbidity [12]. Mutation detection by sequencing is time-consuming, because mutations are spread right across the gene.…”