PMC6042331_01
a G-banded showing the der(9)t(9,11)(p24;q?22). The black arrows point the gain of chromosome material on 9p and the loss on 11q; b FISH analysis using LSI p16 probe [LSI p16 (9p21), red signal/CEP 9 (9p11-q11), green signal, Dual Color Probe, Vysis] and inverted DAPI, showing that CDKN2A gene was normal in a metaphase. The black arrows shows both CDKN2A normal signals; c FISH analysis using LSI KMT2A Dual Color break apart rearrangement probe Vysis, showing the monoallellic loss of the KMT2A gene with the loss of one signal in interphase nuclei (white arrows) and in metaphase using inverted DAPI (black arrow). d FISH using LSI ATM (11q22) spectrum orange probe, Vysis showing the monoallellic loss of ATM with the loss of one signal in interphase nuclei (white arrows) and in metaphase using inverted DAPI (black arrow)
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Fig1
CD34/CD13/CD11b (54.25%), HLA-DR/CD33/CD7 (31,54%), dysplastic erythropoiesis (CD36/CD71/CD235a), dysgranulopoiesis (CD13/CD16/CD11b/Cd33/CD64/CD15,CD45) and monocytic lineage expressing CD14/CD64/CD36/HLA-DR,CD45. Cytogenetic analysis with G-band technique in bone marrow cells showed an abnormal karyotype: 46,XY,der(9)t(9;11)(p24;q?22)[9]/46,XY[12] (Fig. 1a). The FISH analysis for the CDKN2A gene showed two normal signals (Fig. 1b). It was observed a monoallelic loss of KMT2A and ATM genes (Fig. 1c and d, respectively).