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Background: The aim of the study was to investigate the clinical and laboratory characteristics of IgM primary plasma cell leukemia., Methods: We retrospectively analyzed a case of clinical and laboratory characteristics of IgM primary plasma cell leukemia and review related literature of patient with primary plasma cell leukemia., Results: Laboratory tests: Alanine aminotransferase 128 U/L, Aspartate aminotransferase 245 U/L, Globulin 47.8 g/L, Lactate dehydrogenase 1,114 U/L, Creatinine 111.7 mol/L, Serum calcium 2.47 mmol/L, β2 microglobulin 8.52 µg/mL, Immunoglobulin G 31.41 g/L, D-dimer 2.34 mg/L, Prothrombin time 13.6 seconds Fibrinogen 2 g/L, White blood cell 7.38 x 109/L, Red blood cell 3.46 x 1012/L, Hemoglobin 115 g/L, Platelet 7 x 109/L, and 12% Primitive naive cells can be seen in peripheral blood smear. Bone marrow smear: Accounted for 52% of original cells, the cell size, shape is irregular, the edge is not neat, the cell quality is rich, stained gray blue, cytoplasmic staining uneven, some devouring blood cells can be seen in the cytoplasm or unknown substance, the nucleus shape is irregular, visible distortion and fold, is visible on the part of the nuclei cavitation sample inclusions, chromatin is meticulous, partly visible large nucleoli. Flow cytometry results showed abnormal cell group held 23.85% of nuclear cells, expression of CD38, CD138, CD117, cKappa, partly CD20, weak expressing CD45, not express CD27, CD19, CD56, CD200, CD81, cLambda. It was a monoclonal plasma cell with an abnormal phenotype, consistent with a plasma cell tumor. Immunofixation electrophoresis results showed that the serum M protein was 22.80 g/L, which was IgG-κ type, the serum free KAP light chain was 232.69 mg/L, the serum free LAM light chain was 5.37 mg/L, and the rFLC (κ-FLC: λFLC) was 43.33. The diagnosis was primary plasmacytic leukemia of light chain type., Conclusions: Primary plasma cell leukemia (pPCL) is a rare and highly aggressive plasma cell malignancy. Laboratory staff should pay more attention to and recognize the pleomorphic morphology of neoplastic plasma cells, which can enable timely clinical development of bone marrow smear, biopsy, flow cytometry, and cytogenetic tests providing help in early diagnosis and treatment.

Background: The aim of the study was to investigate the clinical characteristics and diagnosis of acute myeloid leukemia with CD56- blastic plasmacytoid dendritic cell neoplasm., Methods: The clinical characteristics and diagnosis of CD56-blastic plasmacytoid dendritic cell neoplasm and review related literature of 3 patients with acute myeloid leukemia were retrospectively analyzed., Results: This paper reports 3 cases and all were elderly men. The bone marrow features of three patients suggested the diagnosis of acute myeloid leukemia with blastic plasmacytoid dendritic cell neoplasm. Case 1: Flow cytometry showed that visible abnormalities in myeloid cells, accounting for 19.25% of nucleated cells, the phenotypes were CD117+, CD38+, CD33+, CD13+, CD123+, HLA-DR+, CD34 partial+, CD64 partial+ and TDT partial+, CD7-, CD11b-, CD22-, CD15-, CD5-, CD2-, CD20-, CD19-, CD10-, CD4-, CD14-, CD36, MPO-, CD9-, cCD79a-, cCD3-, mCD3-, CD5-. In addition, a group of abnormal plasmacytoid dendritic cells was observed, accounting for 13.83% of nuclear cells (CD2-, TDT partial+, CD303+, CD304+, CD123+, CD34-, HLA-DR+, and CD56-). Second generation sequencing: RUNX1 mutation 41.7%, DNMT3A mutation 41.3%. Case 2: Flow cytometry showed that visible abnormalities in myeloid cells, accounting for 33.66% of nucleated cells, express the strong expression of CD34 expression of CD117, HLA - DR, CD38, CD13, CD33, CD123, the TDT, no expression of MPO, cCD3, and cCD79a, conform to the AML phenotype. In addition, a group of abnormal plasmacytoid dendritic cells was observed, accounting for 26.87% of nucleated cells (CD303+, CD304+, CD123++, HLA-DR+, CD33+, CD36+, CD7 dim, CD4+, CD56-, TDT-). Second generation sequencing: The mutations of FLT3, CBL, RUNX1, and SRSF2 were 7.4%, 7.5%, 53.3%, and 29.9%. Case 3: Flow cytometry showed that visible abnormalities in myeloid cells, accounting for 23.76% of nucleated cells, the phenotypes were CD117++, HLA-DR++, CD34++, CD38+, CD13+, CD123+, CD7 partial+, and CD33 partial+, MPO-, TDT-, cCD3-, cCD79a-. In addition, a group of abnormal plasmacytoid dendritic cells was observed, accounting for 16.66% of nuclear cells (TDT+, CD303+, CD304+, CD 123++, HLA-DR+, CD38+, CD7+, CD56-, CD34-)., Conclusions: Acute myeloid leukemia with CD56-blastic plasmacytoid dendritic cell neoplasm is extremely rare and no special clinical manifestations are found, and the diagnosis is based on bone marrow cytology and immunophenotyping. There is no standard regimen for treatment of acute myeloid leukemia with mature blastic plasmacytoid dendritic cell neoplasm, and the prognosis depends on the progression of acute myeloid leukemia.

Background: The goal was to study the role of the morphology, immunophenotype, karyotype and fusion gene expression in a patient with diagnosis of AML1-ETO positive acute myeloid leukemia., Methods: A case of AML1-ETO positive acute myeloid leukemia morphologically similar to chronic myelogenous leukemia was reported. The results of the morphology, immunophenotype, karyotype and fusion gene expression were analyzed by reviewing relevant literature., Results: The patient was a young boy, at the age of 13, with clinical manifestations of intermittent fatigue and fever. Blood routine: White blood cell 142.6 x 109/L, Red blood cell 0.89 x 1012/L, Hemoglobin 41 g/L, Platelet 23 x 109/L, primitive cells account for 5%. Bone marrow smear: Granulocyte system hyperplasia is obvious, visible at each stage, primitive cells account for 17%, eosinophils, basophils, and phagocytic blood cells were observed. Flow cytometry showed myeloid primitive cell population was 4.14%, immature and mature granulocytes cell population was 85.22%, and eosinophil cell population was 0.61%. The results showed that the proportion of myeloid primitive cell was high, the expression of CD34 was enhanced, the expression of CD117 was partially absent, the expression of CD38 was weakened, the expression of CD19 was weak, and a few cells expressed CD56, and the phenotype was abnormal. The proportion of granulocyte series increased and the nucleus shifted to the left. The proportion of erythroid series was decreased, and the expression of CD71 was weakened. The results of fusion gene showed AML1-ETO positive. Karyotype analysis showed clonogenic abnormality t(8;21)(q22;q22)., Conclusions: The peripheral blood and bone marrow images of patients with t(8;21)(q22;q22) AML1-ETO positive are the manifestations of chronic myelogenous leukemia, suggesting that cytogenetics and molecular genetics play an irreplaceable role in the diagnosis of acute myeloid leukemia, and the comprehensive diagnostic efficiency is significantly better than that of morphology.