Etiopathogenesis, symptoms, diagnosis and treatment of neuroblastoma

Irvinas Muliuolis1, Emilė Tilindytė1, Rūta Samaitienė1,2

1 Vilnius University Faculty of Medicine

2 Children’s Hospital, affiliate of Vilnius University Hospital Santaros clinics


Neuroblastoma characterizes a spectrum of neoplastic diseases of neural crest-derived sympathoadrenal cells and manifests mostly in early childhood. Although neuroblastoma is classified as a very rare pathology, it is the most common malignancy in children under one year of age. The aim of this article is to review and describe the etiopathogenesis, clinical manifestations, diagnosis and treatment of neuroblastoma. The literature search was accomplished by using the PubMed database. The exact ethiopathogenesis of neuroblastoma is not known, but is thought to be the result of a defect in the differentiation of neural crest stem cells. Over the past decade, more and more information about the interaction and influence of oncogenetic and transcriptional factors on tumor initiation has been available, most notably mutations in the MYCN, PHOX2B, and ALK genes, cytogenetic factors such as gain of chromosomes 2p; 17q gain; 1p loss of heterozygosity; 11q loss. Despite the rising number of major identifying factors influencing neuroblastoma formation, there is not a single one of them that is present in all cases of neuroblastoma, so a multifactorial etiology is considered, thus explaining the heterogeneous expression of the disease. The tumor can develop anywhere in the sympathetic nervous system and the most often clinical presentation is abdominal or back pain, sweating, constipation and diarrhea. The prognosis of the disease depends on the degree of tumor differentiation, but there is also a chance of spontaneous regression. Radiologic imaging plays an important role in diagnosis of neuroblastoma and is used to determine both the localization of the tumour and prognosis, however the diagnosis is confirmed by histological examination of the tumor biopsy. Treatment of neuroblastoma is complicated by unequal response to treatment, it is prescribed depending on the risk group of the tumor. A choice to observe can be made for infants because of the possibility of spontaneous regression. In the case of low-risk disease, surgery is the standard treatment. In the case of moderate-risk diseases, treatment of choice is chemotherapy, combined with surgical treatment if necessary, and in the case of high-risk disease, both chemotherapy and surgery are used in combination with radiotherapy.


Keywords: Neuroblastoma, etiopathogenesis, diagnosis, treatment.