The neurocristopathiesA unifying concept of disease arising in neural crest maldevelopment

Epidemiological investigations on neuroblastomas in Denmark 1943-1980

“…Several other studies have demonstrated an increased risk of childhood cancer with advanced maternal age, whereas others found no such effect (Daling et al, 1984). This study revealed a significantly higher frequency of children with signs of multicentric primary tumours as defined by Knudson and Strong (1972) Only one case of familial neuroblastoma was observed in this study, and only one child with both neuroblastoma and neurofibromatosis von Recklinghausen, whereas no cases with neuroblastoma and any other of the so-called neurocristopathies were found (Bolande, 1974).…”

“…Thus, the possibility exists that the maternal age effect in this study could be due to a paternal age effect. There are no significant differences in birth cohort incidence or mortality rates for the cohorts born between 1943 (Bolande, 1974): One patient in this material had both neuroblastoma and neurofibromatis von Recklinghausen, which is more than the expected coincidence due to chance of 0.09 children in Denmark during the years 1943-80, or 0.5 at the 950% confidence limits [as the incidence of von Recklinghausen's disease is I per 2,5-3,300 live births (Waardenburg et al, 1963)]. No cases with neuroblastoma and any other of the neurocristopathies were found.…”

Isolation and Characterization of Neural Crest Stem Cells Derived From In Vitro–Differentiated Human Embryonic Stem Cells

“…1). Given the diversity of its progeny, it is not surprising that disruption of the neural crest adversely affects human development and several complex human disorders such as DiGeorge, Waardenburg and Apert syndromes, neurofibromatosis, and Hirschsprung's disease arise because of aberrations in neural crest development [2,3]. In addition, several aggressive malignancies including malignant melanoma, neuroblastoma, and peripheral primitive neuroectodermal tumors-also known as Ewing sarcoma family tumors-have been proposed to arise because of genetic mutations in neural crest-derived cells [2,[4][5][6][7].…”

Distinct biological properties of two RET isoforms activated by MEN 2A and MEN 2B mutations

“…Neurocristopathy, a concept coined by Bolande (1974), designates a constellation of diseases arising from aberrant neural crest development. Amongst inherited neurocristopathies, multiple endocrine neoplasia type 2 (MEN 2) and Hirschsprung disease (HSCR) have now been recognized to be caused by germline mutations of the RET proto-oncogene.…”