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Clinical presentation, diagnosis, and staging evaluation of neuroblastoma

Jason M Shohet, MD, PhD
Jed G Nuchtern, MD, FACS, FAAP
Section Editor
Julie R Park, MD
Deputy Editor
Sadhna R Vora, MD


The term neuroblastoma is commonly used to refer to a spectrum of neuroblastic tumors (including neuroblastomas, ganglioneuroblastomas, and ganglioneuromas) that arise from primitive sympathetic ganglion cells and, like paragangliomas and pheochromocytomas, have the capacity to synthesize and secrete catecholamines. (See "Paragangliomas: Epidemiology, clinical presentation, diagnosis, and histology" and "Clinical presentation and diagnosis of pheochromocytoma".)

Neuroblastomas, which account for 97 percent of all neuroblastic tumors, are heterogeneous, varying in terms of location, histopathologic appearance, and biologic characteristics [1]. They are most remarkable for their broad spectrum of clinical behavior, which can range from spontaneous regression, to maturation to a benign ganglioneuroma, or aggressive disease with metastatic dissemination leading to death [2].

Clinical diversity correlates closely with numerous clinical and biological factors (including patient age, tumor stage and histology, and genetic and chromosomal abnormalities). For example, most infants with disseminated disease have a favorable outcome following treatment with chemotherapy and surgery, although the majority of children older than one year of age with advanced-stage disease die from progressive disease despite intensive multimodality therapy. This clinical complexity likely derives from the developmental origins of neuroblastoma, which arises due to developmental arrest of maturing components of the embryonic neural crest [3].

Neuroblastoma has been associated with central hypoventilation, Hirschsprung disease, and neurofibromatosis type 1 (neurocristopathy syndrome), and as a familial disorder associated with mutations in the ALK gene. These are discussed separately. (See "Epidemiology, pathogenesis, and pathology of neuroblastoma".)

The clinical presentation, diagnosis, and staging evaluation of neuroblastoma will be presented here. The epidemiology, pathogenesis, pathology, treatment, and prognosis of neuroblastoma are presented separately. (See "Epidemiology, pathogenesis, and pathology of neuroblastoma" and "Treatment and prognosis of neuroblastoma".)

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Literature review current through: Nov 2017. | This topic last updated: May 13, 2016.
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