PMC10160461_01
(A) Bone marrow aspirate showed hypercellular marrow with increased abnormal promyelocytes. (B) Karyotype revealed 46,XY,t(7;12)(q32;q13),t(15;17)(q24;q21)[18]/46,XY[2] in the bone marrow at APL diagnosis. (C) Circos plot indicating novel fusions between EXOC4 and TRHDE. (D) Total RNA sequencing showed an out-of-frame fusion between exon 1 of EXOC4 and exon 7 of TRHDE. (E) Sanger sequencing confirmed the fusion between EXOC4 and TRHDE.
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Bone marrow (BM) aspiration revealed hyperplasia with 66% abnormal promyelocytes with numerous cytoplasmic azurophilic granules and Auer rods, including Faggot cells ( Figure 1A ). Chromosomal analysis revealed 46, XY, t(7;12)(q32;q13), t(15;17)(q24;q21)[18]/46, XY[2] ( Figure 1B ).