PMC7149855_01
Bone marrow morphology at initial diagnosis. The bone marrow aspirate showed hypercellular marrow with increased abnormal promyelocytes, which had numerous granules, increased Auer rods, and visible of round or oval, distorted, folded nucleus
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Fig1
The bone marrow aspirate showed hypercellular marrow with 83% promyelocytes that had numerous granules, increased Auer rods, and strong myeloperoxidase activity (Fig. 1).
The karytyping and FISH result at initial diagnosis. FIGURE 2 (a): the karyotyping of 46,XY,der(15)t(15;17)(q22;q21),ider(17)(q10)t(15;17)(q22;q21). The arrows indicate abnormal chromosomes. FIGURE 2 (b): the karyotyping of 46,XY,t(15;17)(q22;q21). FIGURE 2 (c): FISH study using a PML-RARA dual-color, dual-fusion translocation probe. The metaphase cell showing three yellow PML-RARA fusion signals, one red signal (PML), and one green signal (RARA), consistent with the karyotype of ider(17)(q10)t(15;17)(q22;q21). FIGURE 2 (d): FISH study using a RARA dual color break apart rearrangement probe. The metaphase cell showing two red signals (5'RARA), one yellow fusion signal (RARA), and one green signal (3'RARA), consistent with the karyotype of ider(17)(q10)t(15;17)(q22;q21)
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Fig2
FLT3, KIT, NPM1, TP53, and U2AF1. Classical cytogenetic analysis showed 17 metaphase cells with 46,XY,der(15)t(15;17)(q22;q21),ider(17)(q10)t(15;17)(q22;q21); 1 metaphase cell with 46,XY,t(15;17)(q22;q21); and 2 normal cells according to ISCN2016 (Fig. 2a and b). RARA x3)[400/500], (PML x3), (RARA x3), and (PML con RARA x2)[25/500] (Fig. 2c). FISH using a Vysis LSI RARA dual color break apart rearrangement probe revealed nuc ish (5'RARA x4), (3'RARA x2), (5'RARA con5'RARA x2)[400/500], (5'RARA x2), (3'RARA x2), (5'RARA con5'RARA x1)[25/500] (Fig. 2d), which is consistent with the result of FISH using the PML/RARA dual color, dual fusion translocation probe. Reverse transcriptase-polymerase chain reaction (RT-PCR) analysis for the PML-RARA rearrangement unexpectedly showed a false negative result; therefore, sequence analysis of PML-RARA were conducted.
Sequencing analysis of PML-RARA fusion transcripts at initial diagnosis. Diagrammatic representation and sequencing information of PML-RARA fusion transcripts of the patient. PML transcripts consisting of exon 6 joined to RARA intron 3 (variant form)
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Fig3
Sequencing of this sample confirmed that there was a fusion between PML exon 6 and RARA intron 3 (variant form)(Fig. 3).