In this study we investigated the significance of CD71 (transferrin receptor 1, TfR-1) as a flow cytometric marker in the diagnosis of acute leukemia (AL). A total of 105 patients with AL were enrolled. Poorly differentiated acute myeloid leukemias (AMLs) (including minimally differentiated AML, AML without maturation, AML with maturation, acute myelomonocytic leukemia) tended to express high levels of CD71 on leukemic cells, while partially differentiated AML (including acute promyelocytic leukemia and acute monocytic leukemia) often expressed low levels of CD71 on leukemic cells (p < 0.05, compared to poorly differentiated AML). B-cell acute lymphoblastic leukemia (B-ALL) expressed low levels of CD71 on leukemic cells, significantly lower than AML, mixed phenotype acute leukemia (MPAL) and normal bone marrow blasts (p < 0.05). In the seven cases of acute erythroid leukemia (AEL), leukemic cells rarely expressed CD71, with the mean CD71 expression level significantly lower than that of acute megakaryocytic leukemia (p < 0.05), and also lower than that of poorly differentiated AML and normal blasts but without statistical significance. CD71 may not be a specific marker for AEL leukemic cells. During the process from myeloid dysplasia to apparent leukemic cells, both CD71 and CD34 gradually increased. Consequently, the presence of leukemic cell subsets with variable levels of CD71 and CD34 may be useful for understanding the dynamic processes involved in the clonal development seen in leukemias.

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Background: Universal gene targets are in persistent demand by real-time quantitative polymerase chain reaction (RT-qPCR)-based methods in acute leukemia (AL) diagnosis and monitoring. Human Krüppel-like factor 3 (hKLF3), a newly cloned human transcription factor, has proved to be a regulator of hematopoiesis. Methods: Sanger sequencing was performed in bone marrow (BM) samples from 17 AL patients for mutations in hKLF3 coding exons. hKLF3 expression in peripheral blood (PB) and BM samples from 45 AL patients was dynamically detected by RT-qPCR. PB samples from 31 healthy donors were tested as normal controls. Results: No mutation was sequenced in hKLF3 coding exons. hKLF3 expression in PB of AL was significantly lower than that in healthy donors [0.30 (0.02-1.07) vs 1.18 (0.62-3.37), P < .0001]. Primary acute myeloid leukemia (AML) exhibited the least expression values compared with secondary AML and acute lymphoblastic leukemia. Receiver operating characteristic (ROC) analyses suggested that hKLF3expression in PB was a good marker for AML diagnosis with an AUC of 0.99 (95% CI 0.98-1.00) and an optimum cutoff value of 0.67 (sensitivity 93.94% and specificity 93.55%). hKLF3 expression was upregulated significantly when AML patients acquired morphological complete remission (CR), and the level of hKLF3 seemed to be higher in patients with deeper CR than in patients with minimal residual disease (MRD). Paired PB and BM samples showed highly consistent alteration in hKLF3 expression (r = .6533, P = .001). Besides, a significantly converse correlation between decreased hKLF3 expression in PB and markers for leukemic load was observed. Conclusions: hKLF3 expression in PB may act as a potential marker for AL diagnosis and monitoring. K E Y W O R D Sacute leukemia, biomarker, diagnosis, human krüppel-like factor 3, minimal residual disease 2804 | YAN et Al.

Background: Fanconi anemia (FA) is the most common inherited bone marrow failure (BMF) syndrome with 22 related genes identified. The ALDH2 rs671variant has been proved related to accelerate the progression of BMF in FA patients. The phenotype and genetic basis of Chinese FA patients have not been investigated yet. Methods: We analyzed the 22 FA-related genes of 63 BMF patients suspected to be FA. Clinical manifestations, morphological and cytogenetic feathers, ALDH2 genotypes, treatment, and outcomes of the definite cases were retrospectively studied. Results: A total of 21 patients were confirmed the diagnosis of FA with the median age of BMF onset was 4-yearold. The number of patients manifested as congenital malformations and growth retardation were 20/21 and 14/21, respectively. BM dysplasia and cytogenetic abnormalities were found in 13/20 and 8/19 patients. All the patients with abnormal karyotypes also manifested as BM dysplasia or had evident blasts. Thirty-five different mutations were identified involving six genes and including twenty novel mutations. FANCA mutations contributed to 66.67% of cases. Eight patients harboring ALDH2-G/A genotype have a significantly younger age of BMF onset (p = 0.025). Within the 19 patients adhering to continuous follow-up, 15 patients underwent hematopoietic stem cell transplantations (HSCTs). During the 29 months of follow-up, 8/19 patients died, seven of which were HSCT-related, and one patient who did not receive HSCT died from severe infection. Conclusions: The phenotypic and genetic spectrum of Chinese FA patients is broad. Bone marrow dysplasia and cytogenetic abnormalities are prevalent and highly consistent. The overall outcome of HSCTs is disappointing. Nationwide multicenter studies are needed for the rarity and adverse outcome of this disease.