A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion.
Carlotta GianiTeresa RamoneCristina RomeiRaffaele CiampiAlessia TacitoLaura ValerioLaura AgateClara UgoliniMichele MarinòFulvio BasoloAlessandro FranchiSimona BorsariAngela MichelucciCesare SelliGabriele MaterazziFilomena CetaniRossella EliseiPublished in: Case reports in endocrinology (2020)
This is the first case of a complex syndrome characterized by peculiar features of MEN2B, without Pheo but with a pelvic plexiform neurofibroma and with HPTH, which is typical of MEN2A. A "de novo" new germline RET deletion located in exon 11 was found.