Familial NB accounts for 1–2% of NB cases, with two major genes showing germline mutations in association with the disease: the ALK RTK gene, which is mainly expressed in the developing nervous system [15,16]; and the PHOX2B, encoding a transcription factor essential in neuronal differentiation and development of the autonomic nervous system, which is mutated in patients with congenital central hypoventilation syndrome (CCHS) [17]. Here, ALK is linked to neuroblastoma.