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Diagnosis of neuroblastoma
Last reviewed: 06.07.2025
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Routine clinical examinations for neuroblastoma include anamnesis, physical examination, complete blood count, urine analysis, and blood chemistry with mandatory testing of lactate dehydrogenase activity and ferritin concentration. The most likely cause of increased ferritin levels is increased synthesis by tumor cells with subsequent secretion into the blood plasma.
Tumor visualization is possible using various methods (ultrasound, radiography, CT, MRI), each of which has certain advantages. A combination of methods allows you to get the most complete picture of the process. Tumor volume is calculated by multiplying three mutually perpendicular dimensions, expressed in centimeters, and dividing the resulting product by 2.
The diagnosis of neuroblastoma is made morphologically by examining biopsy material obtained from the primary tumor or metastases, or by detecting bone marrow damage in combination with an increase (more than three times compared to normal values) in the concentration of catecholamines or their derivatives in the blood or urine.
Catecholamine derivatives of particular diagnostic value in neuroblastoma include vanillylmandelic, homovanillic acids, and dopamine. The concentration of vanillylmandelic and homovanillic acids is elevated in 85% of patients, and the concentration of dopamine is elevated in 90% of patients. Catecholamine excretion has no prognostic significance, but a high ratio of vanillylmandelic and homovanillic acids indicates the presence of a poorly differentiated tumor and is associated with a worse prognosis (the relationship is directly proportional).
An additional diagnostic marker of neuroblastoma is neuron-specific enolase, secreted by neuroendocrine cells of the tumor, determined by immunohistochemical examination. High activity of this enzyme indicates a high prevalence of the process. Other markers of neuroblastoma are ganglioside GD 2, chromogranin A, neuropeptide Y. It should be noted that none of the listed indicators is specific for this type of tumor.
Bone scintigraphy with 99mTc and subsequent radiography of the identified foci of isotope hyperfixation are used to visualize possible bone metastases.
Scintigraphy with iobenguane (N-iodobenzylguanidine, I 131 ) has certain advantages, since this isotope selectively accumulates on the catecholamine receptors of neuroblastoma cells, making it possible to visualize both the primary tumor focus and metastases. The day before the study and for 3 days after it, it is necessary to take potassium iodide to protect the thyroid gland.
Aspiration biopsy of bone marrow (from 4-8 points) is a mandatory diagnostic minimum in case of suspected neuroblastoma, since bone marrow is affected in 10% of cases. Trepanobiopsy of bone marrow is used as an additional research method.
All lesions suspected of metastasis should be biopsied.
To verify the diagnosis of neuroblastoma, the morphological study is supplemented by immunohistochemical and molecular biological studies. This is especially important when conducting differential diagnostics between so-called small round cell tumors (lymphomas, primitive neuroectodermal tumors, rhabdomyosarcoma).
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