Pedi Neurogenic Tumors Flashcards
What solid, extracerebral pediatric tumor arises
from neuroectodermal neural crest cells of the
sympathetic nervous system (e.g., organ of Zuckerkandl, sympathetic chain, etc.) or adrenal medulla?
Neuroblastoma
What is the range of clinical outcomes associated
with pediatric neuroblastoma?
Spontaneous resolution vs. rapid metastases (70% at
diagnosis) and death
What are the common age groups affected by
neuroblastoma?
50% by age 1 year, 80% by age 5 years
What are the common manifestations of
neuroblastoma in the head and neck?
Horner syndrome, asymmetric crying facies, heterochromia
irides, mass effect (airway compression, pharyngeal com-
pression, proptosis, periorbital ecchymosis or “raccoon
eyes,” trismus, etc.)
Where are the potential sites of distant metastases
in neuroblastoma?
Head and neck: skull base, periorbital bones, maxillofacial
bones, paranasal sinuses
Other: bone marrow, liver, skin, other organs
In addition to neck CT and MRI, abdominal CT and
MRI, chest X-ray, bone scans (technetium radio-
nuclide scan or I123-metaiodobenzylguanidine
[MIBG] scan), and bone marrow aspirates, what
additional tests are important in evaluating a
patient with neuroblastoma?
Histology (core needle or open biopsy, not FNA), urinary catecholamine metabolites (vanillylmandelic acid, homo-
vanillic acid), and possibly urinary dopamine, serum LDH, or serum ferritin
Although several genetic markers have been linked
to neuroblastoma, which has the most significance
when considering prognosis and risk stratification?
MYCN amplification
What is the staging system used for pediatric
neuroblastoma?
International Neuroblastoma Staging System
● Stage 1: Localized tumor with complete gross resection,
with or without microscopic residual disease; ipsilateral
lymph nodes; not attached to the primary specimen;
microscopically negative for tumor
● Stage 2A: Localized tumor with incomplete gross resec-
tion, ipsilateral lymph nodes, not attached to the primary
specimen, microscopically negative for tumor
● Stage 2B: Localized tumor, with or without gross
resection; ipsilateral lymph nodes; not attached to the
primary specimen; microscopically negative for tumor
● Stage 3: Unresectable unilateral tumor infiltrating across
the midline, with or without regional lymph node
involvement; or localized unilateral tumor with contrala-
teral regional lymph node involvement; or midline tumor
with bilateral extension by infiltration (unresectable) or
lymph node involvement
● Stage 4: Any primary tumor with distant metastases to
lymph nodes bone, bone marrow, liver, skin, or other
organs (except as noted for stage 4S)
● Stage 4S: Localized primary tumor (1A–2B) with dissem-
ination limited to skin, liver, or bone marrow in an infant < 1 year of age
Why might it be reasonable to offer close
observation for infants less than 12 to 18 months
of age (excluding neonates < 2 months of age)
diagnosed with neuroblastoma?
Most of these tumors undergo spontaneous regression
(stage 4S). High-risk features such as age < 2 months,
diploidy, undifferentiated pathology, and/or MYCN amplifi-
cation are contraindications to observation.
What treatment options are available for patients
with neuroblastoma based on the Children’s
Oncology Risk stratification schema (stage, age,
histology, International Neuroblastoma pathology
classification, and clinical picture)?
● Primary surgical resection or surgery combined with
other treatment strategies
● Upfront chemotherapy to shrink the tumor followed by
resection
● Multiagent chemotherapy as primary treatment
● Radiation for unresectable tumors that are unresponsive
to chemotherapy, high-risk disease, or life-threatening
compression
What benign tumor contains Schwann cells, mast
cells, and fibroblasts?
Neurofibromas
What clinical criteria are required to diagnose
NF-1?
● Two or more of the following are required for a diagnosis:
Six or more café-au-lait macules > 5 mm (prepubertal)
or > 15 mm (postpubertal) in diameter
● Two or more neurofibromas of any type or one plexiform
neurofibroma
● Axillary or inguinal freckling
● Optic glioma
● Two or more Lisch nodules (raised, pigmented hamarto-
mas of the iris)
● Distinctive bony lesion (i.e., sphenoid dysplasia, thinning
of the long bone cortex with or without pseudoarthrosis)
● A first-degree relative with NF-1 based on these criteria
Note: 46% of children < 1 year of age with sporadic NF-1
fail to meet these criteria; 95% meet criteria by 8 years
and 100% by 20 years.
What gene is responsible for NF-1?
NF-1 gene on chromosome 17q11.2, which results in
mutation of neurofibronin, a tumor suppressor gene;
autosomal dominant
For a child with a large, light brown-pigmented
macule suggestive of a cafe-au-lait spot, what
conditions must be considered?
● Neurofibromatosis
● McCune-Albright syndrome
● Fanconi anemia
● Tuberous sclerosis
What are the four possible neurofibroma
subtypes?
● Cutaneous
● Subcutaneous
● Nodular plexiform
● Diffuse plexiform (has the highest risk for malignancy)
