What is the role of biopsy in the workup of pediatric neuroblastoma?

Updated: Oct 09, 2017
  • Author: Norman J Lacayo, MD; Chief Editor: Max J Coppes, MD, PhD, MBA  more...
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Bilateral bone marrow aspirates and biopsies should be performed to exclude metastatic disease.

Biopsy or resection of the primary tumor (stage I or II disease) is performed to collect tissue samples for biologic studies used to assign the patient into the appropriate risk category. Most centers in the United States perform limited open biopsies when the primary tumor is unresectable upfront. Adequate tissue is needed to perform molecular studies that aid in risk assignment. Extensive resections should be avoided upfront if they may place patient at excessive risk from morbidity or mortality from surgery. Neuroblastoma is a chemo-sensitive tumor; thus, second-look surgery to resect a residual primary may be a safer procedure with biopsy only performed upfront.

Tissue samples from a primary or metastatic tumor may be undifferentiated and confused with other small, round, blue cell tumors of childhood; however, immunohistochemical stains can aid with tissue diagnosis.

Molecular techniques, such as fluorescent in situ hybridization (FISH), can detect MYCN amplification, an important prognostic marker. Polymerase chain reaction (PCR) can identify specific translocations, such as t(11;22), in Ewing sarcoma and t(2;13) in alveolar rhabdomyosarcoma, thus ruling out neuroblastoma.

Neuroblastoma in bone marrow can be difficult to distinguish from other small, round, blue cell tumors of childhood.

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