Int J Hematol (2014) 100:527–528 DOI 10.1007/s12185-014-1675-y
IMAGES IN HEMATOLOGY
Variant acute promyelocytic leukemia presenting with loss of visual acuity and extreme pancytopenia Tzu-Hua Chen-Liang · Jeronimo Lajara · Francisco Jose Ortuño
A 44-year-old woman visited the ophthalmology department due to a rapidly progressive unilateral loss of visual acuity. Wide-angle retinography showed hemorrhages (Fig. 1a, b––autofluorescence). An optical coherence tomography confirmed a detached retina in the setting of hemorrhage Fig. 1c). The patient was markedly pale. Urgent blood analysis showed: WBC: 0.4 × 10e9/L (3 % immature atypical cells were counted), Hb: 36 g/L, and platelets: 25 × 10e9/L. Prothrombin activity was 92 %, fibrinogen 1.44 g/L, and D-dimer 8934 ng/mL. Bone marrow was hypocellular; however, 72 % undifferentiated blast cells with irregular nuclei and without cytoplasmic granules were counted (Fig. 2a). Myeloperoxidase (Fig. 2b) and chloroacetate esterase (Fig. 2c) were markedly positive. Her immunophenotype was CD34++, CD13+ (heterogeneous), CD33++ (homogeneous), HLA-DR–, CD15–, CD56– and CD2+. No metaphases were obtained. FISH analysis revealed 50 % nuclei with a positive t(15;17)(q22;q12) signal (Fig. 2d). Quantitative RT-PCR yielded 5340 copies of PML-RARα bcr3 transcripts. A diagnosis of variant acute promyelocytic leukemia was achieved and induction treatment with Pethema LPA 2012 schedule (Idarubicin 12 mg/m2/d 2,
4, 6, 8 and ATRA 45 mg/m2/d) was initiated. Quantitative RT-PCR by the 2nd and 5th months after initiating treatment yielded 0.16 and