Neuroblastoma
Updates to Article Attributes
A neuroblastomaNeuroblastoma is a tumour of neuroblastic origin and the most common extracranial solid childhood malignancies and the third commonest childhood tumor after leukemia and brain malignancies. It accounts for ~ 15~15% of childhood cancer deaths 2.
Epidemiology
The tumours typically occur in infants and very young children (mean age of presentation being ≈ 22≈22 months) with 95% of cases diagnosed before the age of 10 years. Occasionally, they may be identified antenatally or immediately at birth (see congenital neuroblastoma) 2.
Clinical presentation
Clinical presentation is typically with pain or a palpable mass and abdominal distension, although numerous other presentations are encountered due to local mass effect.
Bony metastases may present with skeletal pain or a palpable lump or mass. Limping and irritability due to skeletal metastases is known as the Hutchinson syndrome 2.
Rarely, neuroblastoma may present with a paraneoplastic syndrome (e.g. opsomyoclonus)5.
Other accompanying syndromes include:
- Pepper syndrome
- blueberry muffin syndrome: multiple cutaneous lesions
Pathology
The tumours arise from the primitive neuroectodermal cells. The histology is similar to small round blue cell tumours 3.
Location
Neuroblastomas arise from the sympathetic nervous system 2-3:
Intra abdominal occurrence is commoner than intra thoracic. Specific sites include:
- adrenal glands
-: most common site of origin:, 35% - retroperitoneum: 30-35%
- organ of Zuckerkandl
- coeliac axis
- paravertebral sympathetic chain
- posterior mediastinum: 20%
- neck: 1-5%
- pelvis: 2-3%
Associations
The vast majority of neuroblastomas are sporadic, however in rare instances they may be associated with 1-4:
- Beckwith-Wiedemann syndrome
- central failure of ventilation
- DiGeorge syndrome
- Hirschsprung disease
- Neurofibromatosis type 1 (von Recklinghausen disease)
Radiographic features
Plain film
Appearances are non-specific, typically demonstrating an intrathoracic or intrabdominal a soft-tissue mass. Pressure on adjacent bones may cause remodelling of ribs, vertebral bodies or pedicle thinning. Up to 30% may have evidence of calcification on the plain film.
Skeletally metastases are usually ill-defined and lucent, with periosteal reaction or metaphyseal lucency. Sclerotic metastases are uncommon 2.
Ultrasound
Neuroblastoma on ultrasound demonstrates a heterogeneous mass with internal vascularity. Often there are areas of necrosis which appear as regions low echogenicity. Calcification may or may not be evident on ultrasound 2.
Nuclear medicine
A number of compounds are used for diagnosis and staging:
- pentetreotide labeled to Indium-In111 (somatostatin analog)
- not specific for neuroblastic tissue
-
MIBG (metaiodobenzylguanidine labeled to Iodine-123)
- 95% of neuroblastomas secrete catecholamines, however
- 30% of neuroblastomas are negative on MIBG
- sensitivity: 88%
- specificity: 99% (for sympathetic tissue) 2
- does not distinguish between neuroblastoma, glanglioneuroblastoma, ganglioneuroma, carcinoid, and pheochromocytoma
Surveillance for metastatic recurrence
- Tc-99m MDP
- 36% of primary tumours negative
- mainly to evaluate skeletal metastases
- also able to detect some lung and liver metastases 2
CT
On CT, the tumour typically is heterogeneous with calcifications seen in 80 - 90-90% of cases 2. Areas of necrosis are of low attenuation.
The morphology of is often most helpful, with the mass seen insinuating itself beneath the aorta and lifting it off the vertebral column. It tends to encase vessels and may lead to compression. Adjacent organs are usually displaced, although in more aggressive tumours direct invasion of the psoas muscle or kidney can be seen. In the latter it can make distinguishing neuroblastoma from Wilms tumour difficult (see neuroblastoma vs Wilms tumour).
Lymph node enlargement is often present.
MRI
MRI is superior to all other modalities in assessing the organ of origin, intracranial or intra-spinal disease and bone marrow disease 2.
-
T1
-: heterogeneous and iso to hypointense -
C+ (Gd)
-: variable and heterogeneous enhancement -
T2
-- heterogeneous and hyper intense
- cystic
/ necrotic/necrotic areas very high intensity - signal voids may be evident
Staging and metastatic disease
For staging refers to: neuroblastoma staging
Metastatic disease is common and has a variety of patterns.
- liver
- diffuse infiltration (more common in stage 4S)
- focal hypo-enhancing masses
- lung and pleura
- discrete nodules
- diffuse consolidation
- pleural disease is uncommon
- brain and meninges
- dural metastases can be diffuse of nodular
- brain metastases are uncommon but variable in appearance
Treatment and prognosis
Treatment depends on the patients stage. Localised tumours considered to be 'low-risk' are surgically excised and patients tend to do very well (see below). In 'high-risk' tumours, a combination or surgery, chemotherapy +/- bone marrow transplantation is employed, unfortunately with poor overall results. In some cases, where tumours are very large, pre-surgical chemotherapy to attempt to down-stage the tumour may be administered 2.
Patients with stage 1, 2 or 4S have a better prognosis. Unfortunately 40 - 60-60% of patients present with stage 3 or 4 disease 4. For advanced disease, the age of the child is most important 3.
- stage 1, 2 or 4S: 75-90% 3 year survival
-
stage 3
- <
; 1;1 year of age: 80-90% 1 year event free survival - >
; 1;1 year of age: 50% 3 year survival
- <
-
stage 4
- <
; 1;1 year of age: 60- 75-75% 1 year event free survival - >
; 1;1 year of age: 15% 3 year survival
- <
Poor prognostic factors
- N-Myc mutation
- chromosome 1p deletion
- later age of onset
Better prognostic factors
- TRK-A expression
Differential diagnosis
For an intra-thoracic neuroblastoma consider:
- intrathoracic lymphoma
- extra lobar pulmonary sequestration
- round pneumonia
- ganglioneuroma
- ganglioneuroblastoma
For an intra-abdominal neuroblastoma consider:
See also
-<p>A <strong>neuroblastoma</strong> is a tumour of <a href="/articles/neuroblastic-tumours">neuroblastic origin</a> and the most common extracranial solid <a href="/articles/childhood-malignancies">childhood malignancies</a> and the third commonest childhood tumor after leukemia and brain malignancies. It accounts for ~ 15% of childhood cancer deaths <sup>2</sup>.</p><h4>Epidemiology</h4><p>The tumours typically occur in infants and very young children (mean age of presentation being ≈ 22 months) with 95% of cases diagnosed before the age of 10 years. Occasionally, they may be identified antenatally or immediately at birth (see <a href="/articles/congenital-neuroblastoma">congenital neuroblastoma</a>) <sup>2</sup>.</p><h4>Clinical presentation</h4><p>Clinical presentation is typically with pain or a palpable mass and abdominal distension, although numerous other presentations are encountered due to local mass effect.</p><p>Bony metastases may present with skeletal pain or a palpable lump or mass. Limping and irritability due to skeletal metastases is known as the <a href="/articles/hutchinson-syndrome">Hutchinson syndrome</a> <sup>2</sup>.</p><p>Rarely, neuroblastoma may present with a paraneoplastic syndrome (e.g. <a href="/articles/opsomyoclonus">opsomyoclonus</a>)<sup>5</sup>.</p><p>Other accompanying syndromes include</p><ul>- +<p><strong>Neuroblastoma</strong> is a tumour of <a href="/articles/neuroblastic-tumours">neuroblastic origin</a> and the most common extracranial solid <a href="/articles/childhood-malignancies">childhood malignancies</a> and the third commonest childhood tumor after leukemia and brain malignancies. It accounts for ~15% of childhood cancer deaths <sup>2</sup>.</p><h4>Epidemiology</h4><p>The tumours typically occur in infants and very young children (mean age of presentation being ≈22 months) with 95% of cases diagnosed before the age of 10 years. Occasionally, they may be identified antenatally or immediately at birth (see <a href="/articles/congenital-neuroblastoma">congenital neuroblastoma</a>) <sup>2</sup>.</p><h4>Clinical presentation</h4><p>Clinical presentation is typically with pain or a palpable mass and abdominal distension, although numerous other presentations are encountered due to local mass effect.</p><p>Bony metastases may present with skeletal pain or a palpable lump or mass. Limping and irritability due to skeletal metastases is known as the <a href="/articles/hutchinson-syndrome">Hutchinson syndrome</a> <sup>2</sup>.</p><p>Rarely, neuroblastoma may present with a paraneoplastic syndrome (e.g. <a href="/articles/opsomyoclonus">opsomyoclonus</a>)<sup> 5</sup>.</p><p>Other accompanying syndromes include:</p><ul>
-<a href="/articles/blueberry-muffin-syndrome">blueberry muffin syndrome </a>: multiple cutaneous lesions</li>-</ul><h4>Pathology</h4><p>The tumours arise from the primitive neuroectodermal cells. The histology is similar to small round blue cell tumours <sup>3</sup>.</p><h5>Location</h5><p>Neuroblastomas arise from the sympathetic nervous system <sup>2-3</sup> :</p><p>Intra abdominal occurrence is commoner than intra thoracic. Specific sites include</p><ul>-<li>adrenal glands - most common site of origin: 35%</li>- +<a href="/articles/blueberry-muffin-syndrome">blueberry muffin syndrome</a>: multiple cutaneous lesions</li>
- +</ul><h4>Pathology</h4><p>The tumours arise from the primitive neuroectodermal cells. The histology is similar to small round blue cell tumours <sup>3</sup>.</p><h5>Location</h5><p>Neuroblastomas arise from the sympathetic nervous system <sup>2-3</sup>:</p><p>Intra abdominal occurrence is commoner than intra thoracic. Specific sites include:</p><ul>
- +<li>adrenal glands: most common site of origin, 35%</li>
-</ul><p><strong>Radiographic features</strong></p><h5>Plain film</h5><p>Appearances are non-specific, typically demonstrating an intrathoracic or intrabdominal a soft-tissue mass. Pressure on adjacent bones may cause remodelling of ribs, vertebral bodies or pedicle thinning. Up to 30% may have evidence of calcification on the plain film.</p><p>Skeletally metastases are usually ill-defined and lucent, with periosteal reaction or metaphyseal lucency. Sclerotic metastases are uncommon <sup>2</sup>.</p><h5>Ultrasound</h5><p>Neuroblastoma on ultrasound demonstrates a heterogeneous mass with internal vascularity. Often there are areas of necrosis which appear as regions low echogenicity. Calcification may or may not be evident on ultrasound <sup>2</sup>.</p><h5>Nuclear medicine</h5><p>A number of compounds are used for diagnosis and staging</p><ul>- +</ul><p><strong>Radiographic features</strong></p><h5>Plain film</h5><p>Appearances are non-specific, typically demonstrating an intrathoracic or intrabdominal a soft-tissue mass. Pressure on adjacent bones may cause remodelling of ribs, vertebral bodies or pedicle thinning. Up to 30% may have evidence of calcification on the plain film.</p><p>Skeletally metastases are usually ill-defined and lucent, with periosteal reaction or metaphyseal lucency. Sclerotic metastases are uncommon <sup>2</sup>.</p><h5>Ultrasound</h5><p>Neuroblastoma on ultrasound demonstrates a heterogeneous mass with internal vascularity. Often there are areas of necrosis which appear as regions low echogenicity. Calcification may or may not be evident on ultrasound <sup>2</sup>.</p><h5>Nuclear medicine</h5><p>A number of compounds are used for diagnosis and staging:</p><ul>
-</li></ul><h5>CT</h5><p>On CT, the tumour typically is heterogeneous with calcifications seen in 80 - 90% of cases <sup>2</sup>. Areas of necrosis are of low attenuation.</p><p>The morphology of is often most helpful, with the mass seen insinuating itself beneath the aorta and lifting it off the vertebral column. It tends to <strong>encase</strong> vessels and may lead to compression. Adjacent organs are usually displaced, although in more aggressive tumours direct invasion of the psoas muscle or kidney can be seen. In the latter it can make distinguishing neuroblastoma from <a href="/articles/wilms-tumour">Wilms tumour</a> difficult (see <a href="/articles/neuroblastoma-vs-wilms-tumour-1">neuroblastoma vs Wilms tumour</a>).</p><p>Lymph node enlargement is often present.</p><h5>MRI</h5><p>MRI is superior to all other modalities in assessing the organ of origin, intracranial or intra-spinal disease and bone marrow disease <sup>2</sup>.</p><ul>- +</li></ul><h5>CT</h5><p>On CT, the tumour typically is heterogeneous with calcifications seen in 80-90% of cases <sup>2</sup>. Areas of necrosis are of low attenuation.</p><p>The morphology of is often most helpful, with the mass seen insinuating itself beneath the aorta and lifting it off the vertebral column. It tends to <strong>encase</strong> vessels and may lead to compression. Adjacent organs are usually displaced, although in more aggressive tumours direct invasion of the psoas muscle or kidney can be seen. In the latter it can make distinguishing neuroblastoma from <a href="/articles/wilms-tumour">Wilms tumour</a> difficult (see <a href="/articles/neuroblastoma-vs-wilms-tumour-1">neuroblastoma vs Wilms tumour</a>).</p><p>Lymph node enlargement is often present.</p><h5>MRI</h5><p>MRI is superior to all other modalities in assessing the organ of origin, intracranial or intra-spinal disease and bone marrow disease <sup>2</sup>.</p><ul>
-<strong>T1 -</strong> heterogeneous and iso to hypointense</li>- +<strong>T1:</strong> heterogeneous and iso to hypointense</li>
-<strong>C+ (Gd) -</strong> variable and heterogeneous enhancement</li>- +<strong>C+ (Gd):</strong> variable and heterogeneous enhancement</li>
-<strong>T2</strong> -<ul>- +<strong>T2</strong><ul>
-<li>cystic / necrotic areas very high intensity</li>- +<li>cystic/necrotic areas very high intensity</li>
-</ul><h5>Staging and metastatic disease</h5><p>For staging refers to : <a href="/articles/neuroblastoma-staging">neuroblastoma staging</a></p><p>Metastatic disease is common and has a variety of patterns.</p><ul>- +</ul><h5>Staging and metastatic disease</h5><p>For staging refers to: <a href="/articles/neuroblastoma-staging">neuroblastoma staging</a></p><p>Metastatic disease is common and has a variety of patterns.</p><ul>
-</ul><h4>Treatment and prognosis</h4><p>Treatment depends on the patients stage. Localised tumours considered to be 'low-risk' are surgically excised and patients tend to do very well (see below). In 'high-risk' tumours, a combination or surgery, chemotherapy +/- bone marrow transplantation is employed, unfortunately with poor overall results. In some cases, where tumours are very large, pre-surgical chemotherapy to attempt to down-stage the tumour may be administered <sup>2</sup>.</p><p>Patients with <a href="/articles/neuroblastoma-staging">stage 1, 2</a> or <a href="/articles/neuroblastoma-staging">4S</a> have a better prognosis. Unfortunately 40 - 60% of patients present with <a href="/articles/neuroblastoma-staging">stage 3</a> or <a href="/articles/neuroblastoma-staging">4</a> disease <sup>4</sup>. For advanced disease, the age of the child is most important <sup>3</sup>.</p><ul>- +</ul><h4>Treatment and prognosis</h4><p>Treatment depends on the patients stage. Localised tumours considered to be 'low-risk' are surgically excised and patients tend to do very well (see below). In 'high-risk' tumours, a combination or surgery, chemotherapy +/- bone marrow transplantation is employed, unfortunately with poor overall results. In some cases, where tumours are very large, pre-surgical chemotherapy to attempt to down-stage the tumour may be administered <sup>2</sup>.</p><p>Patients with <a href="/articles/neuroblastoma-staging">stage 1, 2</a> or <a href="/articles/neuroblastoma-staging">4S</a> have a better prognosis. Unfortunately 40-60% of patients present with <a href="/articles/neuroblastoma-staging">stage 3</a> or <a href="/articles/neuroblastoma-staging">4</a> disease <sup>4</sup>. For advanced disease, the age of the child is most important <sup>3</sup>.</p><ul>
-<li>< 1 year of age: 80-90% 1 year event free survival</li>-<li>> 1 year of age: 50% 3 year survival</li>- +<li><1 year of age: 80-90% 1 year event free survival</li>
- +<li>>1 year of age: 50% 3 year survival</li>
-<li>< 1 year of age: 60 - 75% 1 year event free survival</li>-<li>> 1 year of age: 15% 3 year survival</li>- +<li><1 year of age: 60-75% 1 year event free survival</li>
- +<li>>1 year of age: 15% 3 year survival</li>
-</ul><h6>Better prognostic factors</h6><ul><li>TRK-A expression</li></ul><h4>Differential diagnosis</h4><p>For an <strong>intra-thoracic neuroblastoma</strong> consider</p><ul>- +</ul><h6>Better prognostic factors</h6><ul><li>TRK-A expression</li></ul><h4>Differential diagnosis</h4><p>For an <strong>intra-thoracic neuroblastoma</strong> consider:</p><ul>
-</ul><p>For an <strong>intra-abdominal neuroblastoma</strong> consider</p><ul>- +</ul><p>For an <strong>intra-abdominal neuroblastoma</strong> consider:</p><ul>
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