Turkish Journal of Hematology最新文献

{"title":"TAFRO Syndrome Without Pathology Supporting Castleman Disease: To Be Treated as Idiopathic Multicentric Castleman Disease-TAFRO or a Distinct Disease Entity?","authors":"Si-Yuan Li, Yu-Han Gao, Yue Dang, Lu Zhang, Jian Li","doi":"10.4274/tjh.galenos.2025.2024.0420","DOIUrl":"10.4274/tjh.galenos.2025.2024.0420","url":null,"abstract":"<p><strong>Objective: </strong>TAFRO syndrome, entailing thrombocytopenia, anasarca, fever, reticulin fibrosis, and organomegaly, was previously considered a subtype of idiopathic multicentric Castleman disease (iMCD-TAFRO), with the diagnosis requiring pathology supporting Castleman disease. However, lymph node biopsies may be difficult for TAFRO patients (TAFRO without pathological evidence: TAFRO-w/op-iMCD), and sometimes these biopsies do not confirm iMCD (TAFRO-w/o-iMCD). We aimed to compare the clinical features and prognosis of TAFRO subgroups.</p><p><strong>Materials and methods: </strong>We retrospectively analyzed the cases of 50 iMCD-TAFRO and 11 TAFRO-w/o-iMCD patients treated from May 2015 to April 2024.</p><p><strong>Results: </strong>The groups showed no significant differences in clinical presentation or laboratory data. Both groups of patients were treated with iMCD-targeted strategies addressing cytokine storms. With a median follow-up of 21.4 (range: 0.5-107.0) months, there were no significant differences between iMCD-TAFRO and TAFRO-w/o-iMCD patients in 3-month response rate (72.1% vs. 88.9%, p=0.525), 6-month response rate (70.0% vs. 83.3%, p=0.849), or best overall response rate (77.6% vs. 90.0%, p=0.645). The estimated 3-year progression-free survival rate (65.8% vs. 90.0%, log-rank p=0.163) and the estimated 3-year overall survival rate (77.0% vs. 100%, log-rank p=0.145) were also not significantly different. Cox univariate analysis showed that decreased estimated glomerular filtration rate (<60 mL/min/1.73 m²) was associated with an increased risk of disease progression (hazard ratio: 4.133, 95% confidence interval: 1.561-10.940, p=0.004).</p><p><strong>Conclusion: </strong>iMCD-TAFRO and TAFRO-w/o-iMCD could be considered overlapping entities and these patients should be treated promptly, targeting cytokine storms with similar strategies for each group of patients.</p>","PeriodicalId":23362,"journal":{"name":"Turkish Journal of Hematology","volume":" ","pages":"1-8"},"PeriodicalIF":1.5,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11869139/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143399360","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multigene Panel Testing Reveals Novel Variants in Hereditary Spherocytosis Patients in Türkiye","authors":"Ömer Doğru, Ceren Alavanda, Şenol Demir, Ahmet Koç, Pınar Ata","doi":"10.4274/tjh.galenos.2025.2024.0270","DOIUrl":"10.4274/tjh.galenos.2025.2024.0270","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to determine the genotypic characteristics of patients with hereditary spherocytosis (HS) in Türkiye and to examine the correlation between genotype and phenotype.</p><p><strong>Materials and methods: </strong>We analyzed the cases of 18 patients admitted to the pediatric hematology outpatient clinic with hemolytic anemia, jaundice, cholelithiasis, and splenomegaly. According to the Eber classification, the patients’ clinical presentations were categorized as mild, moderate, or severe. Next-generation sequencing was used to analyze single-nucleotide and copy-number variations in all genes associated with HS via clinical exome sequencing. Relationships between the genes with detected variants and the clinical presentations of the patients were investigated.</p><p><strong>Results: </strong>In total, 21 variants were detected in 5 HS-related genes. Twelve of them were previously reported variants and 9 were novel variants. Seven of them were pathogenic and two were classified as variants of uncertain significance according to the American College of Medical Genetics and Genomics. We discuss the phenotypic effects of novel pathogenic variants in the <i>SPTA1, SPTB, ANK1, SLC4A1</i>, and <i>EPB42</i> genes. Patients with pathogenic <i>EPB42</i> and <i>SLC4A1</i> variants had less severe clinical findings compared to other gene variants according to the Eber classification. On the other hand, patients with pathogenic variants of <i>SPTA1</i> and <i>SPTB</i> had more severe clinical presentation.</p><p><strong>Conclusion: </strong>Molecular diagnosis of HS is important for treatment, prediction of the clinical outcome, and appropriate genetic counseling. Our study contributes to knowledge of the genotype-phenotype distribution of HS by introducing novel variants to the literature.</p>","PeriodicalId":23362,"journal":{"name":"Turkish Journal of Hematology","volume":" ","pages":"25-32"},"PeriodicalIF":1.5,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11869149/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142932799","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Extreme Phenotypic Variation in Siblings with Identical Homozygous Mutations Causing ADA2 Deficiency: A Case Series","authors":"Muhammed D Aksu, Seza Özen, Tekin Aksu, Ayşe Gürel, Arda Çetinkaya, Şule Ünal","doi":"10.4274/tjh.galenos.2025.2024.0373","DOIUrl":"10.4274/tjh.galenos.2025.2024.0373","url":null,"abstract":"","PeriodicalId":23362,"journal":{"name":"Turkish Journal of Hematology","volume":"42 1","pages":"61-64"},"PeriodicalIF":1.5,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11869147/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143524553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Antifungal Prophylaxis in the Treatment Combination of Hypomethylating Agents and Venetoclax for AML: A Survey Study of the Turkish Society of Hematology Subcommittee on Infections and Supportive Therapies in Hematology","authors":"Tuğcan Alp Kırkızlar, Vildan Özkocaman","doi":"10.4274/tjh.galenos.2024.2024.0436","DOIUrl":"10.4274/tjh.galenos.2024.2024.0436","url":null,"abstract":"","PeriodicalId":23362,"journal":{"name":"Turkish Journal of Hematology","volume":" ","pages":"69-71"},"PeriodicalIF":1.5,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11869140/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142886053","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Duplication of the Long Arm of Chromosome 3 Leads to <i>MECOM</i> Rearrangement in Acute Myeloid Leukemia","authors":"Shaobin Yang, Shiyang Ma, Xiaoyan Yan, Jingya Yao, Yani Lin","doi":"10.4274/tjh.galenos.2024.2024.0395","DOIUrl":"10.4274/tjh.galenos.2024.2024.0395","url":null,"abstract":"","PeriodicalId":23362,"journal":{"name":"Turkish Journal of Hematology","volume":" ","pages":"56-58"},"PeriodicalIF":1.5,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11869138/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142855625","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"MiR-379-5p Inhibited the Proliferation of Acute Myeloid Leukemia Cells Through Negative Regulation of YBX1.","authors":"Huichao Wu, Lin Zhao, Huanyu Guo, Yingjie Xie, Jianhua Hu, Xinxia Tan","doi":"10.4274/tjh.galenos.2025.2024.0424","DOIUrl":"https://doi.org/10.4274/tjh.galenos.2025.2024.0424","url":null,"abstract":"<p><strong>Objectives: </strong>Acute myeloid leukemia (AML) is a frequent and highly lethal hematological malignancy that is difficult to treat. The research aimed to clarify the molecular mechanisms of MIR-379-5p in AML progression.</p><p><strong>Materials and methods: </strong>RT-qPCR was utilized to evaluate MIR-379-5p expression levels in AML patients and a control group. A ROC curve was created to assess the clinical predictive value of MIR-379-5p in AML, while cell experiments used CCK-8 assay, flow cytometry, and Transwell chambers. Predicted potential target genes of MIR-379-5p by employing online bioinformatics tools, followed by validation using a dual luciferase reporter assay.</p><p><strong>Results: </strong>MIR-379-5p was significantly decreased in AML patients and had clinical predictive value for the disease. In AML cell lines, MIR-379-5p was down-regulated; conversely, the up-regulation of MIR-379-5p inhibited proliferation, migration, and invasion while promoting apoptosis. Notably, YBX1 was a potential target gene of MIR-379-5p, and its upregulation reduced the effects of MIR-379-5p on AML cell behavior.</p><p><strong>Conclusion: </strong>MIR-379-5p had the potential as a biomarker for AML by regulating cell proliferation and apoptosis through targeting YBX1.</p>","PeriodicalId":23362,"journal":{"name":"Turkish Journal of Hematology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143484101","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Decoding Cytoplasmic Vacuolization: Unravelling the Diagnostic Challenges of Vexas Syndrome.","authors":"Taner Tan, Mustafa Cem Bülbül, Merve Kaysin, İbrahim Öner Doğan, Olga Meltem Akay, Sinem Cıvrız Bozdağ","doi":"10.4274/tjh.galenos.2025.2024.0444","DOIUrl":"https://doi.org/10.4274/tjh.galenos.2025.2024.0444","url":null,"abstract":"","PeriodicalId":23362,"journal":{"name":"Turkish Journal of Hematology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143441936","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The IRF2-INPP4B pathway is activated in CD4+ T cells and aggravates acute myeloid leukemia development by inhibiting apoptosis.","authors":"Xiangqin Xing, Mei Zhang, Shengfen Tan, Junfeng Zhu, Jiajia Li, Pingping Zhang, Yuan Yuan, Meng Wang, Feng Zhang","doi":"10.4274/tjh.galenos.2024.2025.0292","DOIUrl":"https://doi.org/10.4274/tjh.galenos.2024.2025.0292","url":null,"abstract":"<p><strong>Background: </strong>Interferon-regulatory factor 2 (IRF2)/inositol polyphosphate 4-phosphatase B (INPP4B) is essential for the differentiation of immune T cells. However, the regulatory mechanism of IRF2/INPP4B signaling pathway on apoptosis of acute myeloid leukemia (AML) cells remains unclear. Thus, this study intended to investigate the function and mechanism of IRF2/INPP4B in the development of AML.</p><p><strong>Methods: </strong>CD4+ T cells were isolated from peripheral blood and identified using flow cytometry. Apoptosis of AML cell line HL60 and the ration of Th1/Th2 were analyzed by flow cytometry. The mRNA expression of IRF2 was detected by quantitative real-time PCR method. Western blot was used to detect the protein accumulation of IRF2, INPP4B, JAK2, p-JAK2, STAT3, p-STAT3, and caspase 3. The contents of IL-4 and IFN-γ were measured by enzyme-linked immunosorbent assay (ELISA) kits.</p><p><strong>Results: </strong>We found that IRF2 and INPP4B were highly expressed in AML-derived CD4+ T cells. Further results indicated that CD4+ T cells promoted HL60 cell apoptosis. Moreover, we found that downregulation of IRF2 promoted HL60 cell apoptosis by regulating Th1/Th2 ratio. In addition, we revealed that overexpression of IRF2 activated JAK2/STAT3 signaling pathway and downregulated caspase 3 expression.</p><p><strong>Conclusion: </strong>We demonstrated that the IRF2-INPP4B signaling in CD4+ T cells activated the JAK2/STAT3 signaling pathway and downregulated caspase 3 expression, causing inhibition on AML cell apoptosis to aggravate AML development. This study proposes a novel regulatory mechanism in AML development, suggesting that the IRF2/INPP4B pathway might influence the JAK2-STAT3 signaling pathway, adding a new layer to our understanding of the complex interplay of these pathways in AML development.</p>","PeriodicalId":23362,"journal":{"name":"Turkish Journal of Hematology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143441948","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Survival Outcomes of Patients with Primary Plasma Cell Leukemia in the Era of Proteasome Inhibitors and Immunomodulatory Agents: A Real-Life Multicenter Analysis","authors":"Ünal Ataş, Ozan Salim, Utku Iltar, Orhan Kemal Yücel, Ayşe Hilal Küçükdiler Eroğlu, Vedat Aslan, Murat Yıldırım, Özen Dedeoğlu, Sema Seçilmiş, Turgay Ulaş, Burak Deveci, Sedanur Karaman Gulsaran, Ayfer Gedük, Fatih Yaman, İbrahim Ethem Pınar, Senem Maral, Ahmet Sarıcı, Serhat Çelik, Hande Oğul, Sıdıka Gülkan Özkan, Aliihsan Gemici, Ahmet Kurşat Güneş, Anil Tombak, İrfan Yavaşoğlu, Volkan Karakuş, Melda Cömert, Tayfur Toptaş, Mehmet Sinan Dal, Rabin Saba, Hakkı Onur Kırkızlar, Özgür Mehtap, Eren Gündüz, Fahir Özkalemkaş, Murat Albayrak, İlhami Berber, Muzaffer Keklik, Nil Güler, Hasan Atilla Özkan, Ömür Gökmen Sevindik, Zahit Bolaman, Erdal Kurtoğlu, Meltem Aylı, Tülin Fıratlı Tuğlular, Fevzi Altuntaş, Levent Ündar","doi":"10.4274/tjh.galenos.2024.2023.0450","DOIUrl":"10.4274/tjh.galenos.2024.2023.0450","url":null,"abstract":"<p><strong>Objective: </strong>In this study, we aimed to obtain real-life data on the use of antimyeloma agents, which significantly increase overall survival (OS) in multiple myeloma (MM) patients, in primary plasma cell leukemia (pPCL) patients with poor prognosis.</p><p><strong>Materials and methods: </strong>Data from 53 patients who were diagnosed with pPCL between 2011 and 2020 and who used at least one proteasome inhibitor (PI) and/or immunomodulatory (IMID) agent were analyzed retrospectively. Depending on the year of the pPCL diagnosis, 20% leukocytes or ≥2x10⁹/L plasma cells in the peripheral blood was used as a diagnostic criterion.</p><p><strong>Results: </strong>The median age of the patients was 58 years and 23 (43.4%) patients were over 65 years of age. For first-line treatment, PI or IMID alone was used by 31 (58.5%) patients, and PI and IMID were used simultaneously by 15 (28.3%) patients. Additionally, 21 (39.6%) patients received transplantation and 13 (24.5%) patients received maintenance treatment. The median progression-free survival was 4 (range: 1-42) months. When patients whose primary disease was refractory to first-line therapy were excluded, the duration of treatment was 6.5 months. The median OS was 15 months with a median follow-up duration of 15 months. Only 7 (13.2%) of the patients were alive at the last follow-up visit. Those with higher β2-microglobulin levels and International Staging System stage 3 and non-transplant patients receiving first-line treatment had shorter OS (p=0.005, p=0.02, and p=0.008, respectively). The concomitant use of PIs and IMIDs, the addition of chemotherapy to induction therapy, and the response to induction therapy or maintenance therapy did not affect OS.</p><p><strong>Conclusion: </strong>In this study, as in previous similar studies, we could not see an increased survival trend in pPCL, which is observed in MM. New studies are needed for pPCL, which is likely to increase with new diagnostic criteria, based on current agents and information from MM.</p>","PeriodicalId":23362,"journal":{"name":"Turkish Journal of Hematology","volume":" ","pages":"225-235"},"PeriodicalIF":1.5,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11628765/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142584399","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Eosinophilia with <i>STAT5B</i>N642H Mutation: A Heterogeneous Entity with Overlapping Morphological Features and Poor Outcome","authors":"Venkat Shashidhar, Aishwarya Karthikeyan, Anand Balakrishnan, Sudhanshi Raina, Jasmina Ahluwalia, Reena Das, Pankaj Malhotra, Sreejesh Sreedharanunni","doi":"10.4274/tjh.galenos.2024.2024.0204","DOIUrl":"10.4274/tjh.galenos.2024.2024.0204","url":null,"abstract":"","PeriodicalId":23362,"journal":{"name":"Turkish Journal of Hematology","volume":" ","pages":"275-278"},"PeriodicalIF":1.5,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11628759/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142112417","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}