Outcomes in multifocal neuroblastoma as part of the neurocristopathy syndrome.

[hirschsprung disease]

The neurocristopathy syndrome occurs because of a germline mutation of the paired-like homeobox 2 b (PHOX 2 B ) gene at 4 p 12 , a neurogenesis regulator gene . The result is abnormal neural crest cell development resulting in congenital central hypoventilation syndrome , Hirschsprung disease , and neuroblastoma (NB ), which is often multifocal and disseminated in its presentation . Previously , such widespread disease was regarded as highly aggressive and treated either with palliative intent or , conversely , with very intense , high -dose chemotherapy . We now present a patient who had neurocristopathy syndrome who had multifocal NB associated with an underlying germline PHOX 2 B mutation . He was treated conservatively with surgery and low -dose chemotherapy . After treatment he had extensive residual disease that has continued to mature despite no further treatment . A literature review identified 26 similar patients presenting with multifocal NB as part of the neurocristopathy syndrome . In all cases the NB behaved in an indolent manner with no deaths from tumor reported when patients received appropriate treatment . These provocative findings suggest for the first time that children who have neurocristopathy-associated NB should be treated conservatively , despite the aggressive appearance of their disease .