PHOX2B and neoplasm: The pathogenetic role of PHOX2B in NB is supported by the presence of heterozygous mutations in familial, sporadic and syndromic cases of NB, and its over-expression in tumour samples and NB cell lines, sometimes associated with other neurochristopathies such as Congenital Central Hypoventilation Syndrome (CCHS) and Hirschprung's disease (HSCR) [16], [17], [18], [19], [20], [21], [22], [23], but the underlying mechanisms are still largely unknown.