Multiple endocrine neoplasia: how many syndromes?

The phrase multiple endocrine neoplasia (MEN) generally denotes an association of tumors so specific as to constitute a syndrome. Three well-recognized such syndromes exist. All are autosomal dominant traits and all have been tentatively mapped to specific chromosomes. Other purported endocrine tumor syndromes have been suggested either as new entities or as subtypes of the existing MEN syndromes. The evidence in favor of these contentions is examined critically. Only one "new" association, that of pheochromocytomas and islet cell tumors, seems reasonable, and even in this setting, some relatives have had manifestations of von Hippel-Lindau syndrome. There is no compelling reason why such conditions as von Hippel-Lindau syndrome, peripheral neurofibromatosis, McCune-Albright syndrome, and others should be reclassified as MEN syndromes, although awareness of their collective endocrine abnormalities is clinically important.