Case
A 19-year-old male presented with progressive vision loss in the right
eye and pain on extraocular movement. He was diagnosed with pre-B cell
acute lymphoblastic leukemia (ALL) with hyperdiploidy 5 years earlier,
and he was treated successfully per Children’s Oncology Group (COG)
protocol AALL1131. His cerebrospinal fluid (CSF) was not involved at the
time of diagnosis. He suffered an isolated central nervous system (CNS)
relapse two years later, and he was treated with a modified version of
COG protocol AALL1331 due to prolonged myelotoxicity, acute renal
failure, and nonalcoholic steatohepatitis incurred during treatment.
During maintenance, he received 18 Gy of craniospinal radiation. One
month after completion of these treatments, he started to develop his
visual symptoms.
Examination showed visual acuity in the right eye of hand movement,
which then progressed to no light perception. Visual acuity in the left
eye was 20/20. The patient had right exotropia at presentation.
Ophthalmoscopy demonstrated optic disc swelling and peripapillary
hemorrhage in the right eye (Fig. 1A). The fundus of the left eye was
normal. Two days after presentation, the right eye had the appearance of
extensive central retinal vascular occlusion.
Magnetic resonance imaging showed a severely thickened right optic nerve
(Supplemental Fig. S1), suspicious for leukemic infiltration of the
optic nerve. There was no evidence for leukemic recurrence in the brain.
A bone marrow (BM) aspiration with minimal residual disease testing and
multiple lumbar punctures (LP) with CSF cytology were all negative for
leukemia.
Given the patient’s history and suspicion of leukemic optic nerve
infiltration, transvitreal fine needle aspiration biopsy (FNAB) of the
optic nerve head was performed, showing very rare atypical cells
suspicious for, but not diagnostic of, relapse (Fig. 2A; Wright-Giemsa
stain, 1000x original magnification); thus, transconjunctival optic
nerve biopsy was completed (Fig. 1B). Microscopic examination (Fig. 2B;
hematoxylin and eosin, 40x original magnification) revealed extensive
tumor necrosis and edema (majority of tissue shown) and a small intact
segment of nerve with a mild perivascular infiltrate of viable leukemic
B lymphoblasts (area as extreme right side of image) which were
immunoreactive for the marker of immaturity, TdT (Fig. 2C; 200x original
magnification, dark brown nuclear label), as well as the B-cell antigen,
CD19 (Fig. 2D; 200x original magnification, dark brown cell membrane
label) among other stains. These results were conclusive for recurrence
of leukemia and the patient was then planned for proton beam radiation
followed by more definitive leukemia therapy.