NF1 Gene Inactivation Acts as Tumor Driver in RET/RAS Negative Medullary Thyroid Carcinomas.
Raffaele CiampiTeresa RamoneCristina RomeiRoberta CasaliniAntonio MatroneAlessandro PreteCarla GambaleSimone Paolo MinardiGiovanni CaparezzaMarco Alessandro PierottiLiborio TorregrossaClara UgoliniGabriele MaterazziRossella EliseiPublished in: European journal of endocrinology (2023)
About 11% of our series of sporadic RET/RAS negative MTC harbor biallelic inactivation of NF1 suppressor gene also regardless neurofibromatosis status. According to our results, NF1 alterations should be searched in all RET/RAS negative MTC as possible driver. Moreover, this finding reduces the number of negative sporadic MTCs and may have important clinical implications in the management of these tumors.