History and exam
Key diagnostic factors
common
age ≤4 years
The majority of neuroblastoma cases occur in children age ≤4 years (34% in children <1 year; 49.9% in those ages 1-4 years).[16]
Median age at diagnosis is 17 months.[16]
Infants typically present with an asymptomatic adrenal mass detected on routine prenatal ultrasound. Patients with localized disease may also be asymptomatic.
abdominal distension
Caused by the presence of a large abdominal mass.
abdominal mass
pain
Abdominal pain is common if the primary site is the abdomen.
Bone pain is common in patients with metastatic disease. Back pain may indicate spinal disease. The presence of neurologic signs and symptoms may indicate spinal cord compression.
decreased appetite
Patients commonly present with general systemic symptoms which may indicate metastatic spread.
weight loss
Patients commonly present with general systemic symptoms which may indicate metastatic spread.
fussiness (infants)
Patients commonly present with general systemic symptoms which may indicate metastatic spread.
fatigue
Patients commonly present with general systemic symptoms, which may indicate metastatic spread.
periorbital ecchymosis (raccoon eyes)
Common in patients with orbital metastases.
uncommon
family history of neuroblastic tumors
Approximately 1% to 2% of patients have a family history of neuroblastoma.[17]
Most hereditary neuroblastomas are caused by alterations in the ALK gene.[18] Germline mutations in the PHOX2B gene are a relatively rare cause of hereditary neuroblastoma.[19][20]
Amplification of MYCN is associated with aggressive (high-risk) disease.[33][34][35]
signs of spinal cord compression
If the tumor extends into the spinal canal, patients may initially present with signs of spinal cord compression including loss of bowel and bladder function, lower-extremity weakness, and back pain.
signs of Horner syndrome
signs of superior vena cava syndrome
If the primary lesion is in the upper portion of the thoracic outlet or cervical sympathetic chain, patients may present with superior vena cava syndrome (characterized by dyspnea, facial swelling, cough, distended neck/chest veins, edema of the upper extremities) due to mass effect on the vascular system.[7][8]
intractable secretory diarrhea
May occur in patients with tumor secretion of vasoactive intestinal protein (VIP), a paraneoplastic syndrome associated with neuroblastoma.[11]
opsoclonus-myoclonus ataxia (OMA)
Paraneoplastic syndrome is sometimes associated with neuroblastoma. OMA (also known as opsoclonus-myoclonus syndrome) occurs in <3% of patients with neuroblastoma.[42]
In patients with OMA, nearly one half will be diagnosed with neuroblastoma; therefore, all children with OMA should be evaluated for neuroblastoma.[43] Rapid, dancing eye movements, rhythmic jerking of limbs/trunk, and ataxia are pathognomonic for OMA.[10]
Other diagnostic factors
common
constipation
Common presenting symptom. Usually secondary to mass effect of abdominal tumor.
uncommon
pallor
May indicate metastatic spread to bone marrow.
bleeding
May indicate metastatic spread to bone marrow.
infections
May indicate metastatic spread to bone marrow.
hypertension
Caused by mass effect of abdominal tumor, which may compromise renal vasculature resulting in alterations of the renin-activating system pathway.
May be a result of tumor-associated catecholamine secretion.[29]
Risk factors
weak
neurocristopathies or other syndromes
A few medical conditions, some of which are related to aberrant neural crest development, have been shown to predispose a patient to developing neuroblastoma, including Hirschsprung disease, congenital central hypoventilation syndrome, and neurofibromatosis type 1.[21][22]
Turner syndrome complicated by neuroblastoma has been reported.[31][32]
family history of neuroblastic tumors or genetic predisposition
Approximately 1% to 2% of patients have a family history of neuroblastoma.[17]
Most hereditary neuroblastomas are caused by alterations in the ALK gene.[18] Germline mutations in the PHOX2B gene are a relatively rare cause of hereditary neuroblastoma.[19][20]
Amplification of MYCN is associated with aggressive (high-risk) disease.[33][34][35]
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