What are Presentations of Neuroblastoma?

Patient Presentation
A 9-month-old male came to clinic because of an abdominal mass that had been felt by his visiting aunt when she was bathing him. He was overall healthy and the review of systems was negative for fever, nausea/emesis, constipation, pain, limp, sweating, bruising, bleeding, or other problems. The past medical history was non-contributory and family history was also negative for any cancer.

The pertinent physical exam showed a healthy appearing male with normal vital signs and growth parameters in the 50-75%. His abdominal examination revealed a distinct palpable mass on the right side below the liver. The liver felt distinct from it and didn’t appear specifically enlarged. The spleen was not palpable. He had some shotty cervical and groin lymph nodes but nodes in other areas were not appreciated.

The diagnosis of an abdominal mass was made. Oncology and surgery were consulted and after presentation at tumor board, the patient underwent resection with an intravenous port placed for chemotherapy which he was tolerating at his followup.

Case Image
Figure 132 – Three sequential axial images from a CT with contrast of the abdomen show a large non-enhancing right-sided abdominal mass containing a few calcifications which originates in the region of the right adrenal gland and crosses the midline. The mass is separate from the liver, which it displaces anteriorly, and the mass is separate from the right kidney, which it displaces inferiorly.

Abdominal pain is a very common problem with abdominal masses being somewhat less common. If one considers how frequently patients have abdominal pain due to constipation and that it often presents with a fecal mass, both of these are commonplace. Abdominal and pelvic organs are sometimes mistaken for masses also. As the abdominal and pelvic cavities are large, tumors often need to be quite large before they cause functional problems and/or can be palpated on physical examination.

A review of abdominal masses can be found here.
A review of recurrent abdominal pain can be found here.
A review of acute abdominal pain can be found here.
A review of pelvic pain can be found here.

Learning Point
Neuroblastoma is the most common abdominal tumor in children and the third most common solid tumor. It was first described in 1862 by Rudolf Virchow. It is a tumor of the sympathetic peripheral nerves, with approximately 700 cases/year occurring in the US. Presentation depends on the location, stage, and risk status. “About 37% of patients are diagnosed as infants, and 90% are younger than 5 years at diagnosis, with a median age at diagnosis of 19 months. Increasing age has poorer prognosis.”

Presentations include Horner syndrome (arising within the stellate gangion), dyspnea (arising in the chest), and incidental abdominal mass. Its metastases (especially for bone marrow and cortical bone) also can cause presentations including fever, weight loss, limp/refusal to walk, back pain, compression fractures of the spine, hemiplegia (due to spinal foramina invasion), periorbial ecchymoses (hemorrhage within the orbit sometimes referred to as racoon eyes), neurogenic bladder or severe constipation. Another particular presentation is opsoclonus-myoclonus-ataxia syndrome (OMAS) in children which is also known as dancing eyes/dancing feet. About 50% of patients with OMAS will have neuroblastoma. Tumors arising around the adrenal gland can potentially cause associated endocrine symptoms.

High lactate dehydrogenase and ferritin levels usually indicate higher tumor burden or higher risk pathology and therefore have poorer prognoses. Urinary catecholamines are also elevated. All are used to help monitor disease progression. Imaging is important to help define the tumor and its surrounding anatomy and plan for surgical treatment. Histopathology is important for understanding the tumor’s risks including its chromosomal abnormalities, ploidy (number of chromosomes), and MYCN amplification (neuroblastoma was the first tumor to use this marker). Most important risk factors are age ( 18 months), tumor stage at diagnosis, MYCN amplification and histopathological classification.

Treatment for low risk groups may be only surgery and many of these patients have high survival rates. Some very young patients with particular pathology and staging may only be monitored closely as spontaneous regression can occur. Surgical resection for low risk groups is for tumor removal as potential cure. Patients who have intermediate or high risk status, usually have chemotherapy (before and/or after surgery), surgery and potentially radiotherapy. Surgical procedures here often are for biopsy, debulking, control of local disease and side effects of treatment.
Other treatment includes stem cell transplantation and immunotherapy.

Questions for Further Discussion
1. What other solid tumors are common in young children?
2. How does leukemia present?
3. Beckwith-Wiedemann is associated with what type of childhood solid tumor?

Related Cases

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for this topic: Neuroblastoma

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Neuroblastoma Treatment (PDQ) Health Professional Version – NCI. Published December 9, 2022. Accessed December 19, 2022. https://www.cancer.gov/types/neuroblastoma/hp/neuroblastoma-treatment-pdq

Croteau N, Nuchtern J, LaQuaglia MP. Management of Neuroblastoma in Pediatric Patients. Surg Oncol Clin N Am. 2021;30(2):291-304. doi:10.1016/j.soc.2020.11.010

Chung C, Boterberg T, Lucas J, et al. Neuroblastoma. Pediatr Blood Cancer. 2021;68(S2). doi:10.1002/pbc.28473

Bhatia P, Heim J, Cornejo P, Kane L, Santiago J, Kruer MC. Opsoclonus-myoclonus-ataxia syndrome in children. J Neurol. 2022;269(2):750-757. doi:10.1007/s00415-021-10536-3

Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa