Case Report
A 10-month-old Hispanic male born at 32 weeks with no significant past
medical history was seen in the ER for evaluation after he and his
father were involved in an all-terrain vehicle accident in which his
father lost his life. CT scan done at the emergency room did not reveal
any internal injury, however an incidental finding of a right-side
adrenal mass concerning for a NB was noted. (Fig. 1). An MIBG scan was
done which was avid in the pelvic and periaortic lymph nodes on the
right side; however, there was no uptake in right adrenal mass.
A biopsy of the mass and lymph nodes was done. Initial histology of the
adrenal mass was indeterminate while initial pathology of the lymph
nodes showed diffuse small blue cells throughout the specimen.
Fluorescence in situ hybridization (FISH) analysis of the right iliac
lymph node showed no evidence of MYCN amplification (Fig. 2). The
specimens were submitted for a second opinion. Results from the second
opinion showed that they were two distinct tumors. Sections of the
adrenal mass revealed a sheet-like pattern of growth with partially
retained thick fibrous capsule. The nuclei displayed pleomorphism and
hyperchromasia with scattered, peculiar nuclei; these findings are
consistent with diagnosis of an ACT. Analysis of the peri-aortic and
pelvic lymph nodes showed a different neoplasm composed of small round
blue cells with uniform nuclei and little cytoplasm.
Immunohistochemistry stained positive for chromogranin, synaptophysin,
PIIOX2B, tyrosine hydroxylase, S100 and CD56 and negative for CD45,
CD20, CD79a, CD3, MyoD, pancytokeratin, desmin, and TdT. Further
analysis revealed a wild-type TP53 expression pattern suggestive of a
poorly differentiated neuroblastoma.
Additional germline testing was performed on the patient which revealed
a heterozygous TP53 germline c.818G>A, pArg273His mutation.
The patient continues to be monitored and one year post diagnosis has
not showed any evidence of disease recurrence as he continues to reach
appropriate developmental milestones.