Transcription factor PU.1, as a core member of the ETS family, plays a pivotal role in the multi-lineage differentiation of hematopoietic stem cells, particularly in the regulation of erythroid differentiation. PU.1 orchestrates the process of hematopoietic stem cell differentiation towards erythroid cells by modulating the transcription of lineage-determining factors and interacting with other key transcription factors in a fine-tuned manner. PU.1 plays an irreplaceable role in the development and function of red blood cells, with its abnormal expression closely related to the occurrence and progression of various blood diseases, including leukemia, myelodysplastic syndromes, and various types of anemia. This article comprehensively analyzes the functional roles and molecular mechanisms of PU.1 in various stages of erythroid differentiation, as well as its potential roles in related blood diseases. This review not only deepens our understanding of the mechanism by which PU.1 regulates erythroid differentiation, but also provides theoretical grounds for blood disease therapies based on PU.1.
Humans ; Proto-Oncogene Proteins/genetics* ; Trans-Activators/genetics* ; Cell Differentiation/physiology* ; Hematologic Diseases/physiopathology* ; Erythroid Cells/cytology* ; Animals ; Erythropoiesis/physiology*

To guide clinical blood transfusion practices for pediatric patients, the National Health Commission has issued the health standard "Guideline for pediatric transfusion" (WS/T 795-2022). Blood transfusion is one of the most commonly used supportive treatments for children with hematological diseases. This guideline provides guidance and recommendations for blood transfusions in children with aplastic anemia, thalassemia, autoimmune hemolytic anemia, glucose-6-phosphate dehydrogenase deficiency, acute leukemia, myelodysplastic syndromes, immune thrombocytopenic purpura, and thrombotic thrombocytopenic purpura. This article presents the evidence and interpretation of the blood transfusion provisions for children with hematological diseases in the "Guideline for pediatric transfusion", aiming to assist in the understanding and implementing the blood transfusion section of this guideline.
Humans ; Child ; Hematologic Diseases/therapy* ; Blood Transfusion/standards* ; Practice Guidelines as Topic

OBJECTIVE: To explore the clinical application value of metagenomic next-generation sequencing (mNGS) in pathogen detection of bloodstream infection secondary to hematologic diseases in children. METHODS: 42 children with bloodstream infections secondary to hematologic diseases admitted to the Children's Hematology and Tumor Center of the Affiliated Hospital of Guangdong Medical University from November 2021 to May 2023 were included in the study, and their clinical data, results of peripheral blood mNGS and traditional blood culture, pathogen distribution characteristics, and diagnostic efficacy of mNGS were retrospectively analyzed. RESULTS: Among the 42 children included, there were 2 cases (4.8%) of aplastic anemia (AA), 27 cases (64.3%) of acute lymphoblastic leukemia (ALL), 7 cases (16.7%) of acute myeloid leukemia (AML), 1 case (2.4%) of chronic myeloid leukemia (CML), 2 cases (4.8%) of hemophagocytic lymphohistiocytosis (HLH), 2 cases (4.8%) of non-Hodgkin lymphoma (NHL), and 1 case (2.4%) of Wiskott-Aldrich syndrome (WAS). In mNGS testing, pathogens were detected in 31 peripheral blood samples, with a positive rate of 73.8% (31/42), significantly higher than the pathogen positive rate of 16.7% (7/42) detected by traditional blood culture, and the difference was statistically significant (P < 0.05). Among the pathogen-positive cases detected by mNGS, 23 cases (74.2%) were positive for bacteria, 12 cases (38.7%) were positive for viruses, and 9 cases (29.0%) were positive for fungi. 32.2% (10/31) of the pathogen-positive samples detected by mNGS were mixed pathogens, which could not be effectively detected by traditional blood culture. CONCLUSION Peripheral blood mNGS has advantages in the detection of pathogens of bloodstream infection secondary to hematologic diseases, with a higher detection rate of pathogen positivity than traditional blood cultures. It can detect viruses, rare pathogens and mixed pathogens, and has good clinical application value.
Child ; Child, Preschool ; Female ; Humans ; Male ; Hematologic Diseases/immunology* ; High-Throughput Nucleotide Sequencing ; Metagenomics ; Retrospective Studies ; Sepsis/microbiology*

OBJECTIVE: To investigate the risk factors, clinical characteristics, and bacterial resistance of bloodstream infections caused by Streptococcus mitis in children with hematological disease, so as to provide a reference for infection control. METHODS: The clinical information and laboratory findings of pediatric patients complicated with blood cultures positive for Streptococcus mitis from January 2018 to December 2020 in the Institute of Hematology & Blood Diseases Hospital were searched and collected. The clinical characteristics, susceptibility factors, and antibiotic resistance of the children were retrospectively analyzed. RESULTS: Data analysis from 2018 to 2020 showed that the proportion of Streptococcus mitis isolated from bloodstream infections in children (≤14 years old) with hematological diseases was the highest (19.91%) and significantly higher than other bacteria, accounting for 38.64% of Gram-positive cocci, and presented as an increasing trend year by year. A total of 427 children tested positive blood cultures, including 85 children with bloodstream infections caused by Streptococcus mitis who tested after fever. Most children experienced a recurrent high fever in the early and middle stages (≤6 d) of neutropenia and persistent fever for more than 3 days. After adjusting the antibiotics according to the preliminary drug susceptibility results, the body temperature of most children (63.5%) returned to normal within 4 days. The 85 children were mainly diagnosed with acute myeloid leukemia (AML), accounting for 84.7%. The proportion of children in the neutropenia stage was 97.7%. The incidence of oral mucosal damage, lung infection, and gastrointestinal injury symptoms was 40%, 31.8%, and 27.1%, respectively. The ratio of elevated C-reactive protein (CRP) and procalcitonin was 65.9% and 9.4%, respectively. All isolated strains of Streptococcus mitis were not resistant to vancomycin and linezolid, and the resistance rate to penicillin, cefotaxime, levofloxacin, and quinupristin-dalfopristin was 10.6%, 8.2%, 9.4%, and 14.1%, respectively. None of children died due to bloodstream infection caused by Streptococcus mitis. CONCLUSION The infection rate of Streptococcus mitis is increasing year by year in children with hematological diseases, especially in children with AML. Among them, neutropenia and oral mucosal damage after chemotherapy are high-risk infection factors. The common clinical symptoms include persistent high fever, oral mucosal damage, and elevated CRP. Penicillin and cephalosporins have good sensitivity. Linezolid, as a highly sensitive antibiotic, can effectively control infection and shorten the course of disease.
Humans ; Child ; Streptococcal Infections/microbiology* ; Retrospective Studies ; Hematologic Diseases/complications* ; Streptococcus mitis ; Drug Resistance, Bacterial ; Risk Factors ; Microbial Sensitivity Tests ; Anti-Bacterial Agents ; Female ; Male ; Bacteremia/microbiology* ; Child, Preschool ; Adolescent

OBJECTIVE: To investigate the clinical application value of artificial intelligence (AI)-based bone marrow cell recognition and analysis system in the diagnosis of hematological diseases. METHODS: The bone marrow smears of hematological patients who were admitted to The Second Hospital of Shanxi Medical University from 2018 to 2020 were retrospectively analyzed. A total of 115 bone marrow smears with clear diagnosis and typical cell morphology characteristics were selected, including 20 cases of immune thrombocytopenia(ITP), 11 cases of iron deficiency anemia (IDA), 17 cases of megaloblastic anemia (MA), 20 cases of chronic myeloid leukemia (CML), 17 cases of acute lymphoblastic leukemia (ALL), 23 cases of acute promyelocytic leukemia (APL), and 7 cases of acute myeloid leukemia unclassified (AML-M2). The samples were analyzed by manual microscopic examination, AI automatic recognition, and manual correction after AI recognition. RESULTS: The images captured by the AI device were clear, and the cell morphological structures were distinct. The average experimental diagnostic efficiency parameters of the bone marrow nucleated cells classified in this system were calculated. The sensitivity was 74.90%, specificity was 99.03%, and accuracy was 98.29%. In the comparison between the AI recognition group and the manual examination group, the data of IDA, ITP, MA, and CML diseases were all greater than 0.85 in ICC correlation coefficient, with excellent consistency; the data of APL, AML-M2, and ALL three diseases were between 0.6 and 0.85 in ICC correlation coefficient, with moderate consistency. However, after manual review and correction, the ICC correlation coefficient between the data of the AI correction group and the data from the manual examination group was greatly improved. CONCLUSION The AI bone marrow cell recognition and analysis system has the characteristics of high accuracy, high specificity, good sensitivity and fast detection. When used in combination with manual review, it can improve the detection efficiency of bone marrow cells morphological analysis and meet the needs of clinical work.
Humans ; Artificial Intelligence ; Hematologic Diseases/diagnosis* ; Bone Marrow Cells/pathology* ; Retrospective Studies

OBJECTIVE: To explore the application of targeted mRNA sequencing in fusion gene diagnosis of hematologic diseases. METHODS: Bone marrow or peripheral blood samples of 105 patients with abnormally elevated eosinophil proportions and 291 acute leukemia patients from January 2015 to June 2023 in the First Affiliated Hospital of Soochow University were analyzed and gene structural variants were detected by targeted mRNA sequencing. RESULTS: Among 105 patients with abnormally elevated eosinophil proportions, 6 cases were detected with gene structural variants, among which fusion gene testing results in 5 cases could serve as diagnostic indicators for myeloid neoplasms with eosinophilia. In addition, a IL3∷ETV6 fusion gene was detected in one patient with chronic eosinophilic leukemia, not otherwise specified. Among 119 patients with acute myeloid leukemia (AML), 38 cases were detected structural variants by targeted mRNA sequencing, accounting for 31.9%, which was significantly higher than 20.2% (24/119) detected by multiple quantitative PCR (P < 0.05). We also found one patient with AML had both NUP98∷PRRX2 and KCTD5∷JAK2 fusion genes. A total of 104 patients were detected structural variants by targeted mRNA sequencing in 172 cases with acute B-lymphoblastic leukemia who were tested negative by multiple quantitative PCR, with a detection rate of 60.5% (102/172). CONCLUSION Targeted mRNA sequencing can effectively detect fusion gene and has potential clinical application value in diagnosis and classificatation in hematologic diseases.
Humans ; Hematologic Diseases/diagnosis* ; RNA, Messenger/genetics* ; Oncogene Proteins, Fusion/genetics* ; Sequence Analysis, RNA ; Leukemia, Myeloid, Acute/diagnosis*

OBJECTIVE: By analyzing the hormone secretion of the adenohypophysis, thyroid glands, gonads, and adrenal cortex in patients with hematological diseases before and after hematopoietic stem cell transplantation (HSCT), this study aims to preliminarily explore the effect of HSCT on patients' hormone secretion and glandular damage. METHODS: The baseline data of 209 hematological disease patients who underwent HSCT in our hospital from January 2019 to December 2023, as well as the data on the levels of hormones secreted by the adenohypophysis, thyroid glands, gonads and adrenal cortex before and after HSCT were collected, and the changes in hormone levels before and after transplantation were analyzed. RESULTS: After allogeneic HSCT, the levels of thyroid-stimulating hormone (TSH), triiodothyronine (T3), free triiodothyronine (FT3) and estradiol (E2) decreased, while the levels of luteinizing hormone (LH) and follicle- stimulating hormone (FSH) increased. The T3 level of patients with decreased TSH after transplantation was lower than that of those with increased TSH after transplantation. In female patients, the levels of prolactin (PRL), progesterone (Prog), and testosterone (Testo) decreased after HSCT. Testo and PRL decreased when there was a donor-recipient sex mismatch, and the levels of adrenocorticotropic hormone (ACTH) and cortisol (COR) decreased when the HLA matching was haploidentical. The levels of T3, FT3, and PRL decreased after autologous HSCT. In allogeneic HSCT patients, the levels of TSH, T4, T3, FT3, and ACTH in the group with graft-versus-host disease (GVHD) were significantly lower than those in the group without GVHD. Logistic regression analysis showed the changes in hormone levels after transplantation were not correlated with factors such as the patient's sex, age, or whether the blood types of the donor and the recipient are the same. CONCLUSION HSCT can affect the endocrine function of patients with hematological diseases, mainly affecting target glandular organs such as the thyroid, gonads, and adrenal glands, while the secretory function of the adenohypophysis is less affected.
Humans ; Hematopoietic Stem Cell Transplantation ; Female ; Male ; Hematologic Diseases/blood* ; Follicle Stimulating Hormone/blood* ; Triiodothyronine/blood* ; Luteinizing Hormone/blood* ; Thyroid Gland/metabolism* ; Estradiol/blood* ; Thyrotropin/blood* ; Gonads/metabolism* ; Adult ; Middle Aged ; Adrenocorticotropic Hormone/blood* ; Hormones/metabolism* ; Adrenal Cortex/metabolism* ; Prolactin

In 2005, the Chinese Invasive Fungal Infection Working Group published the first guidelines for the diagnosis and treatment of invasive fungal disease (IFD) in patients with hematological disorders and cancers, with the sixth revision released in 2020. Numerous advances in the fields of hematological oncology treatment and the diagnosis and management of IFD have significantly influenced the corresponding strategies. Therefore, the Chinese Invasive Fungal Infection Working Group has reviewed key research advances from 2020 to 2024 and released the seventh revision of the Chinese guidelines. Major revisions include: changes in the epidemiology of IFD; evaluation of novel diagnostic methods (especially PCR and metagenomic next-generation sequencing); updated recommendations on therapeutic drug monitoring and in vitro drug sensitivity test; management of breakthrough IFD; targeted therapy of Pneumocystis jiroveci pneumonia and cryptococcosis; and updated recommendation on the duration of antifungal therapy.
Humans ; Invasive Fungal Infections/drug therapy* ; Hematologic Diseases/complications* ; Antifungal Agents/therapeutic use* ; Neoplasms/complications* ; Hematologic Neoplasms/complications* ; Mycoses/therapy* ; China

Humans ; Consensus ; High-Throughput Nucleotide Sequencing ; Sensitivity and Specificity ; Hematologic Diseases ; Infections/diagnosis* ; China

Humans ; Toxoplasmosis ; Hematopoietic Stem Cell Transplantation ; Hematologic Diseases