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Diagnosis of mosaic mutations in the MEN1 gene by next generation sequencing.

We report herein for the first time two cases of patients with clinical MEN1 syndrome and in whom sequencing of the MEN1 gene using the Sanger technique was negative. Mosaic mutations were subsequently identified by NGS, allowing appropriate clinical management. These observations confirm that the use of NGS may increase the detection of genetic events responsible for endocrine tumors and suggest that re-sequencing the MEN1 gene by NGS could be useful in patients bearing a suggestive association of endocrine tumors and in whom MEN1 gene sequencing was negative using the Sanger technique.