Pheochromocytoma with neurofibromatosis

Genetic Factors in Cardiovascular Diseases*

“…4), which is inherited as an autosomal dominant. In fact, pheochromocytoma was found to be associated with neurofibromatosis in 5 per cent of the recorded cases (4, 17). It is possible that the true frequency of this association is even higher, since it is easy to pass over the minor manifestations of neurofibromatosis such as cutaneous tumors or “café au lait” spots on the skin.…”

Carcinoid tumour of the ampulla of Vater associated with cutaneous neurofibromatosis

“…In all, the author has been able to locate twelve examples excluding the present case (Sanders and Axtell, 1964;Moreaux, Martin and Bloch, 1971;Stefanini, Urbas and Crockett, 1970;Torres, 1953;Macrae and Conn, 1959;Brunschwig and Childs, 1939). Von Recklinghausen's disease is known to be associated with a large number of tumours of neural origin, including meningioma (Penfield and Young, 1930), phaeochromocytoma (Davis, Hull and Vardell, 1950), acoustic nerve tumours and gliomas (Roberts, 1967;Barnard and Lang, 1964), spongioblastoma of the cerebellum and optic chiasma (Fulton and Bailey, 1930;Barnard and Lang, 1964) and malignant schwannoma (Dehner and Smith, 1970). An association with carcinoids is not generally recognized, although a patient has been reported with generalized cutaneous and visceral neurofibromatosis and a phaeochromocytoma of one adrenal in whom a duodenal carcinoid was an incidental finding at post-mortem (Lee and Garber, 1970).…”

Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

“…Underlying CPS (for genes see Table ) include von Hippel–Lindau syndrome (Neumann et al, ), multiple endocrine neoplasia 2A and B (Hofstra et al, ; Mulligan et al, ), and familial paraganglioma syndromes (Neumann et al, ). In addition, these tumors are associated with neurofibromatosis 1 (Davis et al, ), MAX germline mutations (MYC‐associated factor X gene, MIM 154950) (Comino‐Mendez et al, ), germline mutation in TMEM127 (transmembrane protein inhibiting mTOR signaling, MIM 613403), multiple endocrine neoplasia 1, and tuberous sclerosis 1/2 (Waguespack et al, ).…”