Neuroblastoma is a rare, malignant tumor arising from the embryological neural crest element of the peripheral sympathetic nervous system.
The most common extracranial solid tumor in children; the majority of patients are diagnosed by 5 years of age.
Diagnosis can usually be confirmed by urine catecholamines and imaging; however, biopsy of the primary site (or bone marrow for staging purposes) is required to establish biology (i.e., cytogenetics, pathology) and risk stratification.
Treatment depends primarily on risk classification and varies from observation alone for certain low-risk patients to intense multimodal therapy for high-risk patients.
Prognosis is excellent for patients with low-risk disease and poor for those with high-risk disease.
Relapsed or refractory (high-risk) disease is difficult to cure, and is associated with extremely low survival.
Neuroblastoma is a malignant tumor arising from the embryological neural crest element of the peripheral sympathetic nervous system. It most commonly arises from the adrenal gland(s), but can form anywhere that sympathetic nervous tissue is present, including paraspinal sympathetic ganglia in the chest and abdomen.
The term neuroblastoma is commonly used to describe a spectrum of neuroblastic tumors, including neuroblastomas (the most common type), ganglioneuroblastomas, and ganglioneuromas.
History and exam
Key diagnostic factors
- age <5 years
- abdominal distension
- abdominal mass
- decreased appetite
- weight loss
- fussiness (infants)
- periorbital ecchymosis (raccoon eyes)
- subcutaneous skin nodules
- family history of neuroblastic tumors.
- signs of spinal cord compression
- signs of Horner syndrome
- signs of superior vena cava syndrome
- intractable secretory diarrhea
- opsoclonus-myoclonus ataxia (OMA)
Other diagnostic factors
- neurocristopathies or other syndromes
- family history of neuroblastic tumors or genetic predisposition
1st investigations to order
- serum electrolytes
- serum creatinine/BUN
- liver function tests (LFTs)
- serum lactate dehydrogenase (LDH)
- urine catecholamines
- ultrasound abdomen
- CT scan
- MRI scan
Investigations to consider
- tumor biopsy
- bilateral bone marrow aspiration and biopsy
- serum vasoactive intestinal peptide (VIP)
- 123-iodine-metaiodobenzylguanidine (MIBG) scintigraphy
- positron emission tomography with 18-F-deoxyglucose (18F-FDG PET)
- radionuclide bone scan
relapsed or refractory disease
Jason Shohet, MD, PhD
Neuroblastoma Research Program
Texas Children's Cancer Center and Center for Cell and Gene Therapy
Baylor College of Medicine
JS declares that he has no competing interests.
Jennifer Foster, MD, MPH
Clinical Director, Neuroblastoma Program
Department of Pediatrics Section of Hematology/Oncology
Texas Children's Cancer Center
Baylor College of Medicine
JF has served on the advisory board for Y-mAbs.
Juliet C Gray, MB, BS, MA, MRCPCH, PhD
Associate Professor and Consultant in Paediatric Oncology
University of Southampton
JCG declares that she has no competing interests.
Daniel Weiser, MD
Medical Director, Intra-Abdominal Solid Tumor Program
Children's Hospital at Montefiore
Assistant Professor, Departments of Pediatrics & Genetics
Albert Einstein College of Medicine
DW declares that he has no competing interests.
David Ziegler, MBBS, BSc (Med), FRACP, MD/PhD
Senior Staff Specialist
Sydney Children’s Hospital
DZ declares that he has no competing interests.
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