Neuroblastoma Diagnosis and Management

Clinical Presentation and Diagnosis

The American College of Cardiology and other medical societies recommend that a child presenting with an abdominal mass and hypertension should be evaluated for neuroblastoma, as hypertension is a well-recognized clinical feature of this malignancy, occurring through catecholamine excess or renal artery compression 1, 2
Abdominal mass with hypertension is a classic presentation of neuroblastoma, as patients commonly present with abdominal mass or distension along with hypertension as a specific associated finding 1, 2, 3
Additional supportive features to assess include: fever, weight loss, irritability, bone pain, periorbital ecchymosis, or opsoclonus-myoclonus-ataxia syndrome 1, 4

The National Comprehensive Cancer Network recommends that Wilms tumor be considered in the differential diagnosis of a child with an abdominal mass, but hypertension is less characteristic compared to neuroblastoma 5, 6
Beckwith-Wiedemann syndrome increases risk for both Wilms tumor and hepatoblastoma, but the syndrome itself presents with distinctive features: macroglossia, omphalocele/umbilical hernia, hemihyperplasia, and overgrowth 5, 6
Hepatoblastoma typically presents with abdominal mass but hypertension is not a characteristic feature 7, 8

Urinary catecholamines (VMA and HVA) are essential for diagnosis of neuroblastoma, as they are elevated in the majority of patients 1, 9, 4
Abdominal imaging with ultrasound initially, followed by CT or MRI to characterize the mass and assess for renal artery compression 1
Complete blood count with differential and comprehensive metabolic panel are also recommended as part of the diagnostic workup 1, 2, 9

Multiple core biopsies or surgical resection are required for definitive diagnosis of neuroblastoma, with adequate tissue for histologic and molecular evaluation (MYCN amplification, ALK mutations) 1, 9, 2
Fine-needle aspiration is not recommended for diagnosis of neuroblastoma 9, 4

If Beckwith-Wiedemann syndrome features are identified, implement standardized tumor surveillance: renal ultrasounds every 3 months through age 7 years for Wilms tumor, and abdominal ultrasound with AFP measurements every 3 months through age 4 years for hepatoblastoma 5, 6
For CDKN1C mutations specifically, add neuroblastoma screening with urine catecholamines 6

Hepatoblastoma occurs predominantly in children under 4 years of age, with peak incidence in infancy, according to the American Cancer Society 10, 11

The American College of Radiology recommends MIBG scan for neuroblastoma diagnosis, particularly in opsoclonus-myoclonus-ataxia syndrome, with a sensitivity of 83.3% and specificity of 98.0% 12