PMC7553600_01
Laboratory and imaging results of patients. (A) Morphological assessment of peripheral blood (Wright's staining, oil-immersion lens, x 1000) revealed teardrop-shaped red blood cells. (B) Morphological assessment of bone marrow (Wright's staining, oil-immersion lens, x 1000) revealed erythroid lineage hypoplasia with teardrop-shaped red blood cells. (C) Bone marrow biopsy (haematoxylin-eosin staining, low power lens, x 400) revealed erythroid lineage hypoplasia. (D) Reticular fibre staining of bone marrow (reticular fibre staining, low power lens, x 100) revealed slight reticular fibre hyperplasia. (E) Splenic ultrasonography revealed that the thickness of the spleen at diagnosis was 4.30 cm. (F) The thickness of the spleen at disease progression was 8.18 cm. (G) The thickness of the spleen at day 15 of the first cycle was 5.96 cm. (H) The thickness of the spleen after 4 cycles of treatment was 4.46 cm. (I) The white blood cell (WBC) count, haemoglobin (HB) level and platelet (PLT) count at diagnosis (5 months before treatment), disease progression (treatment initiation) and after 1 to 4 cycles of treatment (1-4 months after treatment). (J) The variant allele frequency (VAF) of KRAS exon 2, EZH2 exon 18, and CREBBP exon 16 mutation at diagnosis (5 months before treatment), disease progression (treatment initiation) and after 4 cycles of treatment (4 months after treatment). (K) The immunophenotype of bone marrow cells revealed increased CD45 expression.
OTT-13-10143-g0001.jpg
PMC7553600_01_OTT-13-10143-g0001.jpg
f0001
Before admission, routine blood tests showed that the white blood cell (WBC) count was 3.6x10^9/L, the haemoglobin (HB) level was 76 g/L, and the platelet (PLT) count was 661x10^9/L (Figure 1I). Ultrasonography showed that the spleen was 4.30 cm thick (Figure 1E). A peripheral blood smear revealed 8% blasts with teardrop-shaped red blood cells (Figure 1A). In addition, the number of megakaryocytes decreased with hypersegmentation and multinucleation, whereas the function of megakaryocytes was fine (Figure 1B). Flow cytometry of BM demonstrated that the myeloid progenitor cell percentage was 2.95% and that CD45 expression was increased (Figure 1K). In addition, BM biopsy showed that BM haematopoietic tissue was hyperplastic with immature cell proliferation and morphologic dysplasia as well as slight reticular fibre hyperplasia (Figure 1C and D). The thickness of the spleen was 8.80 cm, whereas the previous thickness was 4.30 cm by ultrasonography (Figure 1F). Shockingly, blood examination revealed that the WBC count was 75.1x10^9/L, the HB level was 60 g/L, and the PLT count was 80x10^9/L (Figure 1I). NGS showed that the variant allele fractions of KRAS, EZH2, RUNX1 STAG2, and PLCG2 mutations were increased (Figure 1J, Table 2).