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.