Neuroblastoma

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Intro & Pathophysiology - Neural Crest Chaos

  • Most common extracranial solid tumor of childhood.
  • Arises from primitive neural crest cells (neuroblasts) of the sympathetic nervous system.
    • Represents a failure of normal differentiation and migration.
    • Can occur anywhere along the sympathetic chain.
  • Locations: Adrenal medulla (~65%), abdomen, thorax, neck, pelvis.
  • Genetics: N-myc/MYCN gene amplification is the most important prognostic factor (→ poor prognosis).
  • 💡 Unique feature: High rate of spontaneous regression, especially in infants < 1 year old.

Opsoclonus-myoclonus syndrome ("dancing eyes, dancing feet") is a classic paraneoplastic presentation.

Neural crest cell migration and neuroblastoma development

Clinical Features - The Great Masquerader

  • Primary Site Dependent

    • Abdomen (65%): Most common site. Firm, irregular, non-tender mass that crosses the midline.
    • Thoracic: Posterior mediastinal mass; may cause cord compression or respiratory distress.
    • Cervical: Palpable neck mass, may present with Horner's syndrome (ptosis, miosis, anhidrosis).
  • Metastatic Disease

    • Orbital: Periorbital ecchymoses (“Raccoon eyes”) & proptosis.
    • Skin: Bluish, non-tender subcutaneous nodules (“Blueberry muffin baby”).
    • Bone Marrow: Anemia, bone pain, pathological fractures.
  • Paraneoplastic Syndromes

    • Opsoclonus-Myoclonus-Ataxia (OMA): "Dancing eyes, dancing feet".
    • Kerner-Morrison Syndrome: VIP-secreting tumor → Watery Diarrhea, Hypokalemia, Achlorhydria (WDHA).

💡 Pearl: OMA syndrome, while rare, is highly specific. Patients with OMA tend to have a better prognosis as the tumor is often less aggressive.

Raccoon Eyes and Proptosis in Neuroblastoma

Diagnosis & Staging - Finding the Foe

  • Definitive Diagnosis: Tissue biopsy showing small, round, blue cells.
    • Histopathology: Homer-Wright pseudorosettes are characteristic.
  • Biochemical Markers:24-hr urinary catecholamines.
    • Vanillylmandelic acid (VMA)
    • Homovanillic acid (HVA)
  • Imaging for Staging:
    • ¹²³I-MIBG Scan: Gold standard for detecting bony & soft tissue metastasis. Neuroblastoma is MIBG-avid.
    • CT/MRI of chest/abdomen/pelvis to define primary tumor & spread.

image

  • Staging (INSS - International Neuroblastoma Staging System):
    • Stage 1/2: Localized tumor.
    • Stage 3: Unresectable tumor crossing the midline.
    • Stage 4: Metastatic disease.
    • Stage 4S (Special): Age <1 year, localized primary with mets limited to skin, liver, and/or bone marrow.

⭐ Opsoclonus-myoclonus-ataxia syndrome ("dancing eyes, dancing feet"), a paraneoplastic finding, is paradoxically associated with a better prognosis.

Prognosis & Management - Taming the Tumor

  • Prognostic Factors: Key determinants of outcome.
    • Age: Better if diagnosed < 18 months.
    • Stage: Lower INSS stage (1, 2, 4S) has better prognosis.
    • Genetics: MYCN amplification is the most powerful adverse factor. Hyperdiploidy is favorable.

High-Yield Fact: High-risk neuroblastoma treatment now includes anti-GD2 immunotherapy (e.g., Dinutuximab) post-transplant, significantly improving survival.

  • Most common extracranial solid tumor of childhood, arising from neural crest cells.
  • Typically presents as an abdominal mass crossing the midline, most commonly from the adrenal medulla.
  • Look for opsoclonus-myoclonus syndrome (dancing eyes, dancing feet).
  • Diagnosis is supported by elevated urinary VMA and HVA.
  • Biopsy classic finding: Homer-Wright pseudorosettes.
  • N-myc amplification is the single most important poor prognostic factor.
  • Spontaneous regression is common in infants < 1 year.

Practice Questions: Neuroblastoma

Test your understanding with these related questions

A 3-year-old boy presents to the clinic for evaluation of leg pain. This has been persistent for the past 3 days and accompanied by difficulty walking. He has also had some erythema and ecchymoses in the periorbital region over the same time period. The vital signs are unremarkable. The physical exam notes the above findings, as well as some swelling of the upper part of the abdomen. The laboratory results are as follows: Erythrocyte count 3.3 million/mm3 Leukocyte count 3,000/mm3 Neutrophils 54% Eosinophils 1% Basophils 1% Lymphocytes 43% Monocytes 3% Platelet count 80,000/mm3 A magnetic resonance image (MRI) scan of the abdomen shows a mass of adrenal origin. Which of the following is the most likely cause of this patient's symptoms?

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Flashcards: Neuroblastoma

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Neuroblastoma may present with _____ syndrome, sometimes referred to as "dancing eyes, dancing feet"

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Neuroblastoma may present with _____ syndrome, sometimes referred to as "dancing eyes, dancing feet"

opsoclonus-myoclonus

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