Journal of Medical Cases, ISSN 1923-4155 print, 1923-4163 online, Open Access
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Case Report

Volume 15, Number 9, September 2024, pages 250-255

Clinical, Phenotypic and Molecular Characterization of NUP214-ABL1 Fusion Positive Myeloid Malignancies

Figures

Figure 1.
Figure 1. Photomicrograph (× 200) of the bone marrow core biopsy highlighting CD34 positive blasts comprising approximately 15% of the bone marrow elements. Hematoxylin and eosin stain (H&E) on left, CD34 immunohistochemical stain on the right.
Figure 2.
Figure 2. Representative flow cytometric scatter plots highlighting myeloblast population. Full blast immunophenotype: positive for CD10 (subset), CD11b (subset), CD11c, CD13, CD33 (dim), CD117, MPO (small subset), and HLA-DR (dim); negative for TdT, CD2, sCD3, cCD3, CD5, CD4, CD8, CD19, CD22, CD25, CD64 and CD123.
Figure 3.
Figure 3. AML FISH analysis highlighting 5q deletion (red), gains of 5p (green), trisomy 8 (green), gains of 11q23 (KMT2A), three copies of 8q22 (RUNX1T1, orange) and 21q22 (RUNX1, green).
Figure 4.
Figure 4. Representative karyogram exhibiting complex female karyotype with an unbalanced translocation between 3q and 5q resulting in deletions of 3p and 5q; trisomies 5 (partial, leading to gain of 5p), 8, and 19; an isodicentric chromosome 21 leading to one extra copy of 21q/RUNX1; and another unbalanced translocation between 11q and 19p leading to gain of 11q/KMT2A. Multiple clones were present, exhibiting similar abnormalities with minor differences.