In 2004, PHOX2B (paired-like homeobox 2b) was the first to be identified as a neuroblastoma predisposition gene [14,15], and in 2008, the ALK (anaplastic lymphoma kinase) gene was reported as the major cause of hereditary neuroblastoma [16,17], and shown to also be frequently mutated in sporadic neuroblastoma [16,17,18,19,20]. The gene discussed is PHOX2B; the disease is neuroblastoma.