Coincidence of Neurofibromatosis Type 1 and Multiple Endocrine Neoplasia Type 2

Pheochromocytomas are diagnosed incidentally and at older age in neurofibromatosis type 1

“…In addition to fulfilling the clinical criteria for NF1, case 3 showed a typical MEN2A triad including PHEO, primary hyperparathyroidism and medullary thyroid carcinoma; however, he was not a carrier of a RET mutation. Two similar cases were described previously with no RET mutation identified . Recently, Ercolino et al .…”

Neurofibromatosis type 1: should we screen for other genetic syndromes? A case report of co‐existence with multiple endocrine neoplasia 2A

“…Of interest is the fact that genetic testing for MEN2A was negative in our case as well as in the case of Cotesta et al. [11]. So a negative genetic test cannot exclude 100% the possibility that MEN2 will develop.…”

“…To our knowledge, there is only one more case in the literature, reported by Cotesta et al. [11], which had the phenotype of NF1 and MEN2A syndrome but no germline mutation of the RET gene was detected. We cannot exclude the presence of other undetected variants in the RET gene or other unknown genes associated with the development of MEN 2 clinical features which could have modified the phenotype of our patient.…”

“…As there are several case reports which refer to the combination of NF1 and MTC as well as NF1 and hyperparathyroidism, reviewed by Cotesta et al. [11], should we be more cautious and measure calcitonin and iPTH in all cases with this genetic syndrome? These issues need further clarification and may potentially be of clinical importance.…”

“…However, the co‐existence of NF1 with the full spectrum of the clinical symptoms of MEN 2A has rarely been reported. To our knowledge, this is the second case reported which combines the clinical and genetic diagnosis of NF1 with the clinical diagnosis of MEN2A [11].…”