PMC8256097_01
Periorbital swelling of the right eye without erythema or pain.
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Upon ophthalmic examination, she had a painless, hard, non-movable mass occupying the inferior-lateral orbit (Figure 1).
The magnetic resonance imaging of the orbit. (A) Axial T2-weighted post-contrast images showed a mildly enhanced mass compressing the adjacent right lateral rectus muscle and the globe. (B) Coronal T2-weighted post-contrast images showed an extra-conal lesion, which was well-defined and iso-intense as the lateral rectus muscle.
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Magnetic resonance imaging demonstrated a well-defined, mild enhanced mass indenting the adjacent right lateral rectus muscle and the globe (Figures 2A and B).
(A) Hematoxylin and eosin stain of the orbital mass revealed numerous blast cells with large round nuclei and prominent nucleoli. The immunohistochemical stain of the orbital mass showed positive expression of CD34 (B) and CD117 (C). (X400).
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The pathological examination showed medium to large myeloblast cells with round nuclei and prominent nucleoli infiltrating the adipose tissue (Figure 3A). Immunohistochemically, these neoplastic cells expressed CD34 (Figure 3B) and CD117 (Figure 3C), weak bcl-2 and CD79a, but no CD56 or myeloperoxidase.
An allele-specific polymerase chain reaction disclosed the positive Val617Phe mutation of Janus Kinase 2 (JAK2) gene of the patient. (Lane 1).
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Genomic DNA extracted from the bone marrow sample was further processed for an allele-specific polymerase chain reaction, which disclosed positive Val617Phe mutation of Janus Kinase 2 (JAK2) gene (Figure 4).
Marrow biopsy was done for increased blasts in peripheral blood and disclosed hypercellular marrow with around 80% cellularity. In HPF (X400) view, there was increased myeloid series and more than 20% blasts, indicating acute leukemia transformation.
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Bone marrow biopsy showed hypercellular marrow (80% cellularity) with increased myeloid series and more than 20% blasts, which indicated an acute myeloid leukemia transformation (Figure 5).