Neuroblastoma in a Two-month-old Infant: A Case Report
Neuroblastoma is one of the most common childhood malignancies. Patients diagnosed under 2 years of age have a much better prognosis than those diagnosed in later childhood. Neuroblastoma originates from neural crests cells of the adrenal medulla or sympathetic ganglia. Neuroblastoma commonly presents as an abdominal mass, usually first noted by the parents. The treatment of neuroblastoma depends on the stage and it includes surgical excision, multiagent chemotherapy, and bone marrow transplantation.
Neuroblastomas are usually seen in young children and over 80% are detected in those under the age of 4 years with the median age at diagnosis of 21 months.[2,3] There is no sex predilection. Neuroblastomas can exhibit familial incidence and be associated with congenital abnormalities. The wide range of clinical presentations can make the diagnosis and clinical management difficult. It can be diagnosed by ultrasound or computed tomography (CT), urine vanillylmandelic acid (VMA) analysis, fine needle aspiration cytology (FNAC), or biopsy from metastatic skin lesions can confirm the diagnosis. Here we report a case of 2-month-old infant diagnosed as neuroblastoma.
A two-month-old female presented to the paediatric department with a history of abdominal mass that was first noted by the parents. On examination, it was firm in consistency and non-tender. Liver was palpable upto 12 centimetres (cm) from the right costal margin.
An abdominal ultrasound was done which suggested altered echotexture at the upper pole of left kidney not showing significant colour flow on colour Doppler study with a provisional diagnosis of left suprarenal mass, probably a neuroblastoma, and was advised a contrast-enhanced computed tomography (CECT) abdomen for further evaluation.
CECT was done and showed a heterogenous mass arising from the left adrenal gland most probably suggestive of neuroblastoma and hepatomegaly with multiple hepatic metastasis.
Urine examination showed presence of vanillylmandelic acid (VMA) which was above 19.6 milligrams/24 hours urine.
Gross: Examination showed brownish-white elongated bits measuring 1cm.
Microscopy: sections revealed small round cells with hyperchromatic nucleus, scanty cytoplasm arranged singly and in clusters, few forming rosettes (Figure 1).
A final histopathological diagnosis of neuroblastoma was made.
Neuroblastoma originates from neural crests cells of the adrenal medulla or sympathetic ganglia. Neuroblastomas commonly present as an asymptomatic abdominal mass in children which is usually first noted by parents.
Other modes of presentations are fever, bone pain, opsoclonus, cerebellar ataxia, orbital ecchymosis, intractable diarrhoea, and less commonly myoclonus.
Adrenal neuroblastomas usually invade the surrounding tissues. They may show intraspinal (Dumbbell) extension or spread into the kidney. The most common sites of distant metastasis are liver (so-called pepper syndrome), skeletal system (particularly the skull and orbit, so-called Hutchison syndrome), lymph node, ovary, testis and paratesticular region, and central nervous system.[6-8] Bony metastasis are usually multiple and symmetrical.
Based on the International Neuroblastoma Pathology Classification (INPC), the tumour cells show a spectrum of differentiation from primitive neuroblasts to ganglion cells and their classification depends on the relative amounts of these components. This classification applies to untreated neuroblastomas, chemotherapy often induces maturation and/or nuclear anaplasia, therefore, post-chemotherapy neuroblastoma should be diagnosed only as neuroblastoma with chemotherapy effect.
Differential diagnoses of neuroblastoma include small cell tumors of infancy, such as rhabdomyosarcoma, Ewing’s sarcoma/PNET, and malignant lymphoma. The antineuroblastoma antibody, NB-84, has proved less specific as it also stains several other types of small blue round cell tumour cells.[11,12]
The treatment of neuroblastoma depends on the stage of the disease, and it includes surgical excision, multiagent chemotherapy, and bone marrow transplantation.
Knowledge of local tumour extent as well as accurate staging of the disease are essential for proper treatment. In resectable stage 1 (confined to the site of origin) and stage 2 (extending beyond the site of origin but not crossing the midline), surgery is usually sufficient without the need for chemotherapy or radiotherapy. By contrast, in stage 3 (tumour extending beyond the midline) and stage 4 (remote metastases to bones or lymph nodes), chemotherapy and/or radiotherapy are generally required.
Neuroblastomas are derived from the neural crest cells and are the most common solid abdominal masses of infancy. Urine VMA, CECT abdomen, clinical findings and histopathological picture confirmed the diagnoses of neuroblastoma in this infant with metastasis to the liver.
- Shah S, Champanerian N, Pasle RK. Neuroblastoma in 3 months old infant – A rare case report. IAIM, 2016; 3(7):362-365.
- Allan SG, Cornbleet MA, Carmichael J, Arnott SJ, Smyth JF. Adult neuroblastoma. Report of three cases and review of literature. Cancer. 1986; 57:2419-21.
- Kaye JA, Warhol MJ, Kretschmar C, Landsberg L, Frei E III. Neuroblastoma in adults. Three case reports and a review of literature. Cancer.1986; 58:1149-57.
- Kushner BH, Gilbert F, Helson L. Familial neuroblastoma. Case reports, literature review, and etiologic considerations. Cancer. 1986; 57:1887-93.
- Holgersen LO, Santulii TV, Schullinger JN, Berdon WE. Neuroblastoma with intraspinal (dumbbell) extension. J Pediatr Surg. 1983; 18:406-411.
- Kramer K, Kushner B, Heller G, Cheung NK. Neuroblastoma metastatic to the central nervous system: The Memorial Sloan-Kettering Cancer Centre experience and a literature review. Cancer. 2001; 91:1510-19.
- Simon T, Hero B, Berthold F. Testicular and paratesticular involvement by metastatic neuroblastoma. Cancer. 2000; 88:2636-41.
- Young RH, Kozakewich HP, Scully RE. Metastatic ovarian tumors in children. A report of 14 cases and review of the literature. Int J Gynecol pathol. 1993; 12:8-19.
- Dannecker G, Leidig F, Treuner J, Niethammer D. Late recurrence of neuroblastoma. A reason for prolonged follow up? Am J Pediatr Hematol Oncol. 1983; 5: 271-74.
- Okamatsu C, London WB, Naranjo A, et al. Clinicopathological characteristics of ganglioneuroma and ganglioneuroblastoma: a report from the CCG and OCG. Pediatr Blood Cancer. 2009;53:563-69.
- Folpe AL, Patterson K, Gown AM. Antineuroblastoma antibody NB84 also identifies a significant subset of other small blue round cell tumors. Applied Immunohistochemistry and molecular morphology. 1997;5(4):239-45.
- Miettinen M, Chatten J, Paetau A, Stevenson A. Monoclonal antibody NB84 in the differential diagnosis of neuroblastoma and other small round cell tumors. Am J Surg Pathol. 1998;22(3):327-32.