Thursday, July 31, 2014

Outcomes in Multifocal Neuroblastoma as Part of the Neurocristopathy Syndrome

Our Case Report Editor, Dr. Jeffery Malatack shares a case report we early released this month from our upcoming August issue.

By: Jeffrey Malatack, MD

Neuroblastoma rosettes
Photo by Maria Tsokos, US National Cancer Institute
Neuroblastoma has been appreciated for many years to have patient outcomes related to a variety of unique tumor features, including presence of stage 4S subtype, presence of opsoclonus/myoclonus and association with ROHHAD syndrome (Rapid onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation).

In each of these settings the prognosis of the malignancy is improved by what is believed to be an antitumor immune response. Neuroblastoma occurring as part of neurocristopathy syndrome has not previously been considered another special setting with an improved outcome. The neurocristopathy syndrome occurs due to a germline mutation of a neurogenesis regulator gene. The result is abnormal neural crest cell development resulting in congenital central hypoventilation syndrome, Hirschprung’s disease, and neuroblastoma which is often multifocal and disseminated in its presentation. Such widespread neuroblastoma has been considered highly aggressive and treated with either palliative intent or with very intense high dose chemotherapy.

Dr. Williams and colleagues (doi:10.1542/peds.2013-3340) writing from Australia report a patient with neurocristopathy syndrome who had multifocal neuroblastoma associated with the underlying germline mutation. The reported patient was treated conservatively with surgery and low dose chemotherapy. Following treatment he had extensive residual disease that has continued to mature from malignant to nonmalignant neural tumor despite no further treatment.

A literature review also provided in Dr. Williams’ report identified 26 similar patients presenting with multifocal neuroblastoma as part of the neurocristopathy syndrome. In all cases the neuroblastoma behaved in an indolent manner with no deaths from tumor reported where patients received appropriate treatment. These provocative findings suggest neurocristopathy-associated neuroblastoma should be treated conservatively, despite the aggressive appearance of the disease.

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