Research Day

Case Report: A Congenital Neuroblastoma Patient With Brain Metastases

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Neuroblastoma (NB), the most common extracranial tumor of childhood, accounts for 15% of all pediatric oncology deaths. Congenital neuroblastoma is rare with less than 100 cases described in the literature. The central nervous system (CNS) is an uncommon site for dissemination and accounts for 0.7% of cases. Crizotinib is an anaplastic lymphoma kinase (ALK) inhibitor therapy that is currently undergoing clinical trials for treatment of NB.

We detail the clinical course of a four-month-old boy with congenital, stage IV NB. Prenatal ultrasound at 37 weeks and 5 days detected a mass above right kidney. Computed tomography (CT) showed right adrenal neoplasm with hepatic metastases. Metaiodobenzylguanidine scan and elevated urine catecholamines were consistent with NB. Patient was enrolled in the Children's Oncology Group Protocol ANBL1232 for non-high-risk NB. Repeat CT after two cycles of chemotherapy showed decreased in size of right adrenal mass and liver lesions. Biopsy of tumor revealed positive ALK and amplified N-Myc. Patient developed a seizure and CT of the brain found masses suggestive of metastases, confirmed by magnetic resonance imaging (MRI). Given the ALK and N-Myc status, patient was switched to the ANBL 1531 for high-risk NB.

According to ANBL 1232, the first two cycles were Carboplatin/Etoposide and Carboplatin/Cyclophosphamide/Doxorubicin, respectively. After the transition to ANBL 1531, the regimen included Cyclophosphamide/Topotecan and Crizotinib for the ALK positive status. Our patient was the youngest to receive Crizotinib. Despite the change in therapy, his clinical course continued to worsen, and he passed a month after the diagnosis of brain metastasis.

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