Case Report
A 5 month old female with no significant past medical history presented with fever and tachycardia and was found to have Escherichia coli bacteremia. Imaging evaluation for source of bacteremia revealed a right-sided adrenal mass and liver lesions (Fig. 1A). Homovanillic acid (HVA) was mildly elevated to 34.1, while vanillylmandelic acid (VMA) was increased to 82.2. She underwent right adrenalectomy and biopsy of liver lesions. Pathology of the adrenal mass was consistent with poorly differentiated neuroblastoma with favorable histology, and liver biopsy specimen revealed metastatic neuroblastoma. Further workup revealed minimal bone marrow involvement (Fig. 1B). Given confinement of disease to the adrenal gland, liver, and bone marrow, and patient’s age, she was diagnosed with Stage MS neuroblastoma and was managed with observation alone. Approximately six months after her initial diagnosis, routine follow-up imaging revealed a new left adrenal mass and new disease bilaterally in the pelvis and in the proximal femurs (Fig. 2A). Bone marrow aspirates showed increased bone marrow disease on the left side (5%, previously <1%) (Fig. 2B). Liver lesions remained stable. HVA and VMA were elevated at 59.6 and 90.6, respectively, and the Curie score was 7. Molecular genetic testing was performed, which revealed BRAF V600E mutation and loss of heterozygosity (LOH) at 1p and copy number gain at 17q. She was treated with 6 cycles of intermediate risk therapy per Children’s Oncology Group, ANBL0531. Her end of therapy disease evaluation showed improved to stable liver lesions, resolution of the left adrenal mass and negative bilateral bone marrows. VMA and HVA were no longer elevated, and MIBG scan had Curie score of 0. She is currently fifteen months out from therapy without evidence of recurrence.