Patient 1: A.T.
A 2-year-old African-American male presented with fevers and severe
sepsis secondary to Streptococcus pyogenes bacteremia. Initial studies
showed pancytopenia and hyperferritinemia which raised concerns for HLH
and the patient was started on a 5-day course of dexamethasone.
Evaluation for malignancy was attempted, but the patient became
hemodynamically unstable with positioning during bone marrow biopsy and
an inadequate sample was obtained with inconclusive results. Peripheral
flow cytometry did not show presence of immature blasts. He met criteria
for HLH and was treated with dexamethasone and etoposide per HLH-2004
and responded well without complications. However, 7 months after
initial presentation, he presented with pancytopenia and was diagnosed
with B-ALL. He was treated per COG-AALL1731 with persistent disease
throughout induction and consolidation, which required the addition of
blinatumomab. [3] His case raised the concern for an incomplete
diagnostic approach during his initial HLH diagnosis that resulted in a
false negative result that delayed the diagnosis of an underlying
malignancy and partial treatment with dexamethasone.