中国实验血液学杂志最新文献

Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is one of the main treatment methods for hematological malignancies. With the continuous improvement and popularization of transplantation technology, it has brought hope for prolonging the lives and improving the survival rate of patients with hematological malignancies. However, postoperative invasive fungal infection (IFI) is the most common infectious complication and the main cause of death, with difficult early diagnosis and extremely high mortality. This paper summarizes the latest research progress on the pathogenic types, diagnostic methods, high-risk factors and treatment regimen of Candida, Aspergillus and Mucor associated with postoperative IFI, which is expected to provide references for improving the early diagnosis rate and treatment effectiveness of postoperative IFI.

Objective: To analyze the related factors of treatment failure in children with acute lymphoblastic leukemia (ALL) in real-world.

Methods: The clinical data of 1414 newly diagnosed children with ALL admitted to five hospital in Fujian province from April 2011 to December 2020 were retrospectively analyzed. Treatment failure was defined as relapse, non-relapse death, and secondary tumor.

Results: Following-up for median time 49.7 (0.1-136.9) months, there were 269 cases (19.0%) treatment failure, including 140 cases (52.0%) relapse, and 129 cases (48.0%) non-relapse death. Cox univariate and multivariate analysis showed that white WBC≥50×10⁹/L at newly diagnosis, acute T-cell lymphoblastic leukemia (T-ALL), BCR-ABL1, KMT2A-rearrangement and poor early treatment response were independent risk factor for treatment failure (all HR＞1.000, P < 0.05). The 5-year OS of 140 relapsed ALL patients was only 23.8%, with a significantly worse prognosis for very early relapse (relapse time within 18 months of diagnosis). Among 129 patients died from non-relapse death, 71 cases (26.4%) were died from treatment-related complications, 56 cases (20.8%) died from treatment abandonment, and 2 cases (0.7%) died from disease progression. Among them, treatment-related death were significantly correlated with chemotherapy intensity, while treatment abandonment were mainly related to economic factors.

Conclusion: The treatment failure of children with ALL in our province is still relatively high, with relapse being the main cause of treatment failure, while treatment related death and treatment abandonment caused by economic factors are the main causes of non-relapse related death.

Objective: To compare the efficacy and safety of flumatinib (FM) and imatinib (IM) as first-line treatment in newly-diagnosed patients with chronic myeloid leukemia in chronic phase (CML-CP) in real world.

Methods: A total of 84 newly-diagnosed CP-CML patients in our center from December 2019 to December 2022 were retrospectively analyzed. Among them, 32 cases received FM as first-line treatment, and 52 cases received IM. Molecular response (MR), disease progression, survival and incidence of adverse events (AEs) were compared between the two groups.

Results: At 3 months of treatment, the incidences of early molecular response (EMR), MR2.0 and MR3.0 were 96.7%, 70.0% and 20.0% in FM group, respectively, which were significantly higher than 77.1%, 29.2% and 0 in IM group (all P < 0.05). At 6, 9 and 12 months of treatment, the incidences of major molecular response (MMR) in FM group were 68.2%, 85.7% and 90.0%, respectively, which were significantly higher than 22.9%, 34.0% and 51.1% in IM group (all P < 0.01). The median time to achieve MMR in FM group was 6(6-9) months, which was significantly shorter than 18(12-22) months in IM group (P < 0.001). The 3-year progression-free survival rate and 3-year event-free survival rate in FM group were 100% and 68.8%, respectively, while in IM group were 98.1% and 55.8%. There were no significant differences between the two groups ( P >0.05). The incidence of grade 3-4 hematologic AEs in FM group was 21.9%, which was slightly lower than 25.0% in IM group, but the difference was not significant ( P >0.05).

Conclusion: In real clinical practice, FM as first-line treatment achieves MMR earlier than IM, and exhibits good safety profile in newly-diagnosed CML-CP patients, which potentially leads to improved long-term survival and treatment-free remission.

Objective: To explore the genotypes and frequency distribution of thalassemia in Lingui District, Guilin City, and provide reference for the prevention and control of thalassemia in this area.

Methods: The results of genetic testing for thalassemia in 1 501 suspected cases at the Second Affiliated Hospital of Guilin Medical University were analyzed retrospectively. The deletional mutations of α-thalassemia were detected by gap-PCR, the non-deletional mutations of α-thalassemia and β-thalassemia mutations were detected by PCR-reverse dot blot (PCR-RDB).

Results: In 1 501 samples, a total of 678 cases of thalassemia carriers were detected, with a detection rate of 45.17%. Among them, 379 cases were α-thalassemia (including deletional α-thalassemia and non-deletional α-thalassemia), with a detection rate of 25.25%, the most common genotype was -- ^SEA/αα (227 cases, 15.12%), followed by -α^3.7/αα (53 cases, 3.53%). 270 cases of β-thalassemia were detected, with a detction rate of 17.99%, and β^CD41-42 /β^N (144 cases, 9.59%) was the main genotypes, followed by β^CD17/β^N (66 cases, 4.40%) . In addition, there were 29 cases of αβ compound thalassemia, accounting for 1.93%, and the most common genotype was --^SEA/αα complex β^CD41-42 /β^N (5 cases, 0.33%).

Conclusion: Lingui District in Guilin City is a high-incidence area of thalassemia, and the genotypes of carriers are complex and diverse, with genetic heterogeneity. The results of this study provide a scientific basis for genetic counseling and prenatal diagnosis in this area.

Objective: To explore the characteristics of gene mutation in patients with myelodysplastic syndrome (MDS) and its correlation with clinical features.

Methods: From January 2017 to December 2021, 172 patients with MDS in The First Affiliated Hospital of Bengbu Medical University were analyzed retrospectively. Fourteen high frequency genes related to MDS were detected, and the relationship between gene mutation and clinical characteristics of patients as well as revised International Prognostic Scoring System (IPSS-R) was analyzed. The impact of gene mutations on prognosis was explored.

Results: Among 172 patients, there were 101 males and 71 females, with a median age of 67 (15-89) years old, and gene mutations were detected in 88 cases (51.2%). The genes with mutation incidence >5% were arranged in descending order as follows: TET2 (16.9%), RUNX1 (12.8%), ASXL1 (12.2%), CEBPA (8.1%), TP53 (7.0%) and DNMT3A (6.4%). According to biological functional classification, the genes with the highest mutation frequency were epigenetic regulatory genes (36.6%). The proportion of primitive bone marrow cells in mutation group was higher than that in non-mutation group (P < 0.001). The incidence of gene mutation varied in different MDS subtypes, and the difference was statistically significant (P < 0.05). The mutation incidence in IPSS-R higher risk group (IPSS-R score >3.5) was 65.7%, which was significantly higher than 30.0% in IPSS-R lower risk group (IPSS-R score ≤3.5) (P < 0.05), and there was a statistically significant difference in the incidence of TP53 gene mutation between the two groups (P < 0.05). Multivariate Cox survival analysis showed that TP53, NPM1 and TET2 gene mutation were independent risk factors affecting prognosis.

Conclusion: MDS patients are prone to gene mutation, and the increasing number of mutations and the presence of TP53, NPM1 and TET2 gene mutation may be factors affecting the prognosis.

Objective: To analyze the application value of MCV, MCH and HbA₂ in screening for thalassemia in the population of childbearing age in Quanzhou area, and to determine the optimal screening cut-off value of relevant indicators in this area.

Methods: 2 725 couples of childbearing age were included in the study and underwent routine blood test, capillary hemoglobin electrophoresis, and α and β thalassemia gene test. Statistical methods were used to analyze the distribution of thalassemia genotypes, and compare the performance of MCV, MCH, and HbA₂ in screening various types of thalassemia. According to the ROC curve, the best cut-off values of MCV, MCH and HbA₂ in screening for thalassemia in this area were determined.

Results: In this study, a total of 1 801 thalassemia carriers were detected, including 1 341 cases of α-thalassemia, 420 cases of β-thalassemia, and 40 cases of αβ compound thalassemia. The most common genotypes of α-thalassemia and β-thalassemia were -- ^SEA/αα and β⁶⁵⁴ /β^N , respectively. ROC curves were drawn to evaluate the performance of MCV, MCH and HbA₂ in screening for α-thalassemia, mild β-thalassemia, αβ compound thalassemia, silent α-thalassemia, mild α-thalassemia, and intermediate α-thalassemia. The maximum areas under the curves (AUC) were 0.747, 0.865, 0.724, 0.486, 0.812, 0.841; 0.747, 0.846, 0.703, 0.479, 0.796, 0.903; 0.613, 0.980, 0.909, 0.465, 0.674, 0.996, respectively; and the best cut-off values corresponding to the three screening indicators were 76.15fl, 71.95fl, 77.35fl, 86.15fl, 75.41fl, 61.15fl; 24.35pg, 21.51pg, 25.45pg, 28.65pg, 24.01pg, 20.51pg; 2.45%, 3.05%, 3.55%, 3.25%, 2.45%, 1.65%, respectively.

Conclusion: The levels of MCV, MCH and HbA₂ are correlated with the phenotype of thalassemia, and the detection of these indicators is of great significance for the prevention and control of thalassaemia.

Objective: To investigate the role of matrix metalloproteinase-13 (MMP-13 ) in the development, diagnosis and prognosis of multiple myeloma (MM).

Methods: Blood samples of 57 MM patients and 45 normal controls were collected, and real-time PCR was performed to detect the MMP-13 mRNA expression level in the study subjects, and the difference of MMP-13 mRNA level between MM patients and normal controls was compared. The correlations of MMP-13 with MM bone disease and its severity, ISS stage, DS stage, and treatment efficacy were analyzed.

Results: The MMP-13 mRNA in patients with MM was significantly higher than that in normal controls (P < 0.05). The MMP-13 mRNA in MM patients with bone disease was significantly higher than that in patients without bone disease, and the more severe the bone disease, the more obvious the increase in MMP-13 mRNA (P < 0.05). The MMP-13 gene expression level was also significantly different between ISS and DS stage Ⅰand stage Ⅲ patients (P < 0.05), and the MMP-13 mRNA level was significantly decreased after treatment (P < 0.05).

Conclusion: The MMP-13 mRNA expression level is related to the occurrence and development of MM, and it has certain guiding significance in disease diagnosis and prognosis evaluation.

Objective: To analyze the diagnostic value of IgG anti-A/anti-B antibody titer in the serum of type O pregnant women after absorption of IgG anti-AB antibody for ABO hemolytic disease of fetus and newborn (ABO-HDFN).

Methods: From February 2020 to September 2020, 235 samples of neonatal hemolytic disease whose mother's blood type O from Beijing Blood Center were selected. The titer of IgG anti-A/anti-B antibody in mother's serum before and after absorption of IgG anti -AB antibody was detected by microcolumn gel card, and the incidence of ABO-HDFN was statistically analyzed. The titer level of IgG anti-A/ant-B antibody and the incidence of ABO-HDFN were compared before and after the absorption of IgG anti-AB antibody, and the diagnostic efficacy of the titer level of IgG anti -A/anti-B antibody in the serum of type O pregnant women after the absorption of IgG anti-A and B antibodies on the incidence of ABO-HDFN was analyzed using the receiver's work characteristic (ROC) curve.

Results: Of the 235 neonatal hyperbilirubinemia samples with maternal blood type O, 127 were blood type A, 38 of which were diagnosed as ABO-HDFN; 108 were blood type B, of which 31 were diagnosed as ABO-HDFN. Before and after absorption of IgG anti-AB antibody, there was a significant difference in the titer of IgG anti-A/anti-B antibody (P < 0.05). Among the 69 confirmed cases, the incidence of ABO-HDFN increased with the increase of IgG anti-A/anti-B antibody with or without the IgG anti-AB antibody, but the anti-A/anti-B antibody titer ≥1∶512 before the absorption of IgG anti-AB antibody, while the anti-A/anti-B antibody titer decreased significantly, decreasing by three titers, all≤1∶512. The ROC curve shows that the titers of IgG anti-A/anti-B antibodies before and after absorption of IgG anti-AB antibodies can be used as the efficacy indicators for the diagnosis of ABO-HDFN. However, there was a significant difference in the potency of IgG anti-A/anti-B antibody titer for the diagnosis of ABO-HDFN before and after the absorption of IgG anti-AB antibody (P < 0.05). The AUC values were greater than before absorption, indicating that the IgG anti-A/anti-B antibody after the absorption of IgG anti-AB antibody was better than before absorption (P < 0.05).

Conclusion: The higher the titer of IgG anti-A/anti-B antibody measured after absorbing IgG anti-AB antibody, the higher the incidence of ABO-HDFN. In addition, the efficacy of IgG anti-A/anti-B antibody titer to diagnose ABO-HDFN after absorption of IgG anti-AB antibody is higher than that before absorption.

Objective: To explore the gene mutations of Langerhans cell histiocytosis in children, and to analyze the correlation of BRAF V600E mutation with clinical features and prognosis of LCH, so as to provide reference for clinical diagnosis and treatment.

Methods: Fluorescence PCR was used to detect gene mutations in paraffin-embedded tissue samples from 78 children with LCH, and the correlation of BRAF V600E mutation with clinical characteristics and prognosis of LCH in children was analyzed.

Results: Among the 78 children, 41 cases (52.6 %) had BRAF V600E mutation, 8 cases (10.3 %) had MAP2K1 mutation, 1 case (1.3 %) had BRAF Exon 12 mutation, 1 case (1.3 %) had ARAF mutation, and 1 case (1.3%) had PIK3CA mutation. BRAF V600E mutation was not significantly correlated with sex, age, multisystem involvement, risk-organ involvement, CNS-risk lesions, and early treatment response in children with LCH (P >0.05), and it was also not significantly correlated with the recurrence and event-free survival (EFS) of children with LCH (P >0.05).

Conclusion: LCH is an inflammatory myeloid tumor. BRAF V600E mutation is not correlated with clinical features, early treatment response, recurrence and prognosis of LCH.