Figure 1: (A) Bone marrow core biopsy showing a hypercellular marrow with diffuse infiltrate of tumor cells (H&E 400x). (B) Bone marrow aspirate smear showing infiltrate of tumor cells with high nuclear cytoplasmic ratio, irregular nuclei, finely dispersed chromatin, prominent nucleoli, grey-blue agranular cytoplasm with a clear intracytoplasmic vacuole and pseudopodia-shaped cytoplasmic extension (Wright-Giemsa stain 1000x under oil immersion).
CASE REPORT A 58-year-old man presented with a two-week history of generalized weakness, fatigue, and dyspnea on exertion in December 2009. On examination, the patient had a 5 cm soft, non-tender, purplish-red nodular skin lesion on the right forearm that grew larger over the past couple of weeks. There were also multiple small purplish papular lesions on the face, back, and left shoulder. Bilateral cervical multiple enlarged lymph nodes were present. Upon admission, he had anemia and thrombocytopenia with white blood cell 5,400/ul, hemoglobin 10.1 g/dl, and platelets 84,000/ul. Bone marrow core biopsy showed a markedly hypercellular marrow that was diffusely replaced bymedium-sized blasts with high nuclear cytoplasmic (N:C) ratio, scant pale cyto- plasm, irregular nuclear contour, and prominent nucleoli occupying more than 90% of marrow space (Figure 1A). Fewmitotic figures were also noted. Bone marrow aspirate smears showed a predominance of blasts with high N:C ratio, grey-blue agranular cytoplasm with a clear intracy- toplasmic vacuole, pseudopodia-shaped cytoplasmic exten- sion, finely dispersed chromatin, and prominent nucleoli, comprising more than 90% of the cells (Figure 1B). By im- munohistochemistry (IHC), the blasts were positive for CD2 (weak), CD4 (strong), CD56, CD43, CD68 (weakly positive), and CD45 (weak non-specific staining) but were negative for CD1a, CD3, CD8, CD20, CD117, TDT, myeloperoxidase, lysozyme, and TIA-1. Immunophenotypic analysis of bone marrow by flow cytometry identified 89% CD45-positive cells with expression of CD4, CD56, TDT and cytoplasmic CD3, partial expression of CD2, CD5, and CD7, but nega- tive for surface CD3, CD13, CD16, CD19, and CD57. CT thorax showed a 4.8 x 8.5 cm consolidation within the right lower lung andmultiple enlargedmediastinal lymph nodes. Transbronchial lung biopsy showed lung parenchyma in-
toxylin and eosin after fixation in 10% neutral buffered formalin. Immunohistochemical analyses were performed on formalin-fixed paraffin-embedded tissue sections using the avidin-biotin-peroxidasemethod and antibodies to CD3, CD4, CD5, CD8, CD10, CD20, CD43, CD45, CD56, CD57, CD68, and terminal deoxynucleotidyl transferase (TDT). CD123 was performed by Mayo Clinic. Three-color flow cytometric analysis (FACScan, Becton Dickinson, Mountain View, CA) was performed on fresh cell suspension and cerebrospinal fluid (CSF) using antibodies to CD2, CD3, CD4, CD5, CD7, CD13, CD16, CD19, CD56, CD57, and TDT. In situ hybridization for Epstein-Barr virus (EBV), encoded small mRNAs (EBER) were performed. Cytogenetic studies were performed with standard protocols. Q banding was used for chromosome identification and karyotypes were defined according to the International System for Human Cytogenetic Nomenclature. Fluorescence in situ hybridiza- tion (FISH) analysis was performed using LSI TCR alpha/ delta dual color break-apart DNA probe (Vysis, Downers Grove, IL). The LSI TCR alpha/delta probe was a mixture of two probes that hybridize to the opposite sites of 14q11.2 with spectrum green on the telomeric side and spectrum orange on the centromeric side of the breakpoints. Gene rearrangement studies of the joining (J) region of the B-cell immunoglobulin heavy chain (IgH) and/or the T-cell recep- tor (TCR) gamma chain were analyzed utilizing polymerase chain reaction (PCR) amplification to detect the presence of monoclonal populations whichwere visualized as a discrete band in the range of 160 base pairs (bp) to 190bp for the TCR gamma region and 75bp to 150bp for the JH region of the IgH, respectively. Literature review was conducted by searching PubMed (U.S. National Library of Medicine) with the following keyword “blastic plasmacytoid dendritic cell neoplasm”.
J La State Med Soc VOL 166 January/February 2014 3
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