PMC7574910_01
Morphologic features of an AML patient with NUP98-RARG gene fusion. (A, B, D) Promyelocytes with hypergranulated cytoplasm, invaginated nuclei, and Auer rods are indicated with red arrows (Wright-Giemsa stained BM smear, 1000x magnification). (C, E) BM smear strongly positive for peroxidase staining. Morphologic features were observed at the newly diagnosed stage (A-C) and 20 days after treatment with ATRA and ATO (D, E). The BM smear showed 95.5% abnormal promyelocytic granulocytes, with an occasional Auer body in the form of an Auer bundle; the peroxidase staining positive rate was 100%, indicating that there was no remission. (F) BM smear revealing complete remission.
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The smear was strongly positive for peroxidase staining (Figure 1A-C). ATRA and ATO was discontinued, and diuretic detumescence and ventilator-assisted respiratory therapy were administered. A second BM smear showed 95.5% abnormal promyelocytic granulocytes, with an occasional Auer body in the form of an Auer bundle; the rate of positive peroxidase staining was 100%, suggesting no remission (Figure 1D and E). A BM examination was performed to evaluate the response to HIAG; the smear showed 0.5% blasts, indicating that the patient had achieved complete remission (Figure 1F).
Flow cytometry scatterplots showing an immunotype consisting of abnormal populations in an AML patient with NUP98-RARG gene fusion. (A) CD45 gating; a group of abnormal cells is circled. (B) Positive myeloperoxidase (MPO) and negative CD3 expression. (C) Positive human leukocyte antigen (HLA)-DR and negative CD34 expression. (D) CD19 and CD10 negativity. (E) CD13 and CD33 positivity. (F) CD56 and CD16 negativity.
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An immunophenotype analysis showed positivity for myeloperoxidase, cluster of differentiation (CD)13, CD33, human leukocyte antigen-DR, and CD56 (Figure 2).
Chest computed tomography (CT) and color Doppler ultrasound of the patient. (A) Color Doppler ultrasound showing pleural effusion at a depth of 6.03 cm. (B) Chest CT showing pleural effusion on both sides.
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ATO (10 mg per day). After 14 days of treatment, the patient experienced chest tightness, dyspnea, systemic edema, and pleural effusion, consistent with differentiation syndrome. A chest computed tomography scan and color Doppler ultrasound were performed (Figure 3).
Karyotype of an AML patient with NUP98-RARG gene fusion. G-banding revealed a karyotype of 45, X, -X, del(9)(q13q22), t(11;12)(p15; q13); arrows indicate 11p+, 12q-, and 9q-.
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The karyotype was 45, X, -X, del(9)(q13q22), t(11;12)(p15;q13) in 20/20 analyzed metaphases (Figure 4); fluorescence quantitative PCR detection of the PML-RARA fusion transcript was negative, but mutations were detected in several genes at various frequencies including isocitrate dehydrogenase (IDH)2 (37.68%), ten-eleven translocation (TET)2 (49.72%), additional sex combs-like (ASXL)1 (100%), tumor protein (TP)53 (54.75%), Wilms' tumor (WT)1-exon7 (100%), and WT1-exon9 (43.77%).
Timeline of patient's treatment.
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The treatment timeline is shown in Figure 5.