Acute monoblastic leukemia presenting with striking periorbital and periauricular infiltration

Charlotte K. Brierley and Toby A. Eyre

A 31-year-old white man presented with a 6-week history of symptoms of anemia, progressive hearing loss, and periorbital edema. Clinical examination revealed striking periorbital swelling (panels A-B) and periauricular edema with resultant tympanic membrane obstruction. No gingival infiltration was present. Initial complete blood count demonstrated hemoglobin 73 g/dL, white blood cells 85 × 109/L, and platelets 145 × 109/L. The peripheral blood smear (panel C; original magnification ×50; hematoxylin and eosin stain) and bone marrow aspirate (panel D; original magnification ×100; hematoxylin and eosin stain) demonstrated a dominant large monocytoid blast population. Immunophenotyping from the aspirate demonstrated 80% blasts (positive: CD33, CD117, CD34, CD11c, CD56, HLA-DR, and CD64; negative: CD10, CD7, CD19, CD13, CD14, CD41, CD38, GlyA, and cytoplasmic CD79a, myeloperoxidase, terminal deoxynucleotidyltransferase, CD3, and lysozyme). Cytogenetics demonstrated an unbalanced translocation between chromosome 1p13 and 19p13, resulting in partial monosomy for 1p and partial trisomy for 19p (46,XY,der[1]t[1;19][p13;13.?][20]). Mutations in FLT3-ITD, FLT3-TKD, and NPM1 were absent.

The patient was randomly assigned to treatment with fludarabine, cytarabine, granulocyte colony-stimulating factor, and idarubicin within the AML19 clinical trial. Despite rasburicase prophylaxis, on day 3 he developed tumor lysis syndrome (TLS) with acute kidney injury requiring hemofiltration. At day 5, there was complete resolution of periorbital edema and normalization of his hearing (panels E-F). Acute monoblastic leukemia is known to infiltrate extramedullary tissue, but severe periorbital infiltration has rarely been described. Microscopic evaluation of myeloid disease may underestimate the disease burden and risk of TLS.


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