Clinical outcomes, survival, and predictors in lower-risk myelodysplastic syndrome patients treated with cyclosporine A
CONCLUSION: CSA is a safe treatment and can significantly improve cytopenias in a substantial proportion of patients with MDS, especially in individuals with hypocellular bone marrow. However, CSA is not associated with PFS or OS.PMID:38368853 | DOI:10.1159/000537773 (Source: Acta Haematologica)
Source: Acta Haematologica - February 18, 2024 Category: Hematology Authors: Yingjia Lu Lina Zhang Weiying Qu Zhou Feng Yuan Deng Lin Zhao Source Type: research

Cancers, Vol. 16, Pages 808: Infectious Complications in Patients with Myelodysplastic Syndromes: A Report from the D & uuml;sseldorf MDS Registry
Cancers, Vol. 16, Pages 808: Infectious Complications in Patients with Myelodysplastic Syndromes: A Report from the Düsseldorf MDS Registry Cancers doi: 10.3390/cancers16040808 Authors: Annika Kasprzak Julia Andresen Kathrin Nachtkamp Andrea Kündgen Felicitas Schulz Corinna Strupp Guido Kobbe Colin MacKenzie Jörg Timm Sascha Dietrich Norbert Gattermann Ulrich Germing Despite notable advancements in infection prevention and treatment, individuals with hematologic malignancies still face the persistent threat of frequent and life-threatening complications. Those undergoing chemotherap...
Source: Cancers - February 16, 2024 Category: Cancer & Oncology Authors: Annika Kasprzak Julia Andresen Kathrin Nachtkamp Andrea K ündgen Felicitas Schulz Corinna Strupp Guido Kobbe Colin MacKenzie J örg Timm Sascha Dietrich Norbert Gattermann Ulrich Germing Tags: Article Source Type: research

CEBPA double mutations associated with ABO antigen weakness in hematologic diseases
Blood Adv. 2024 Feb 15:bloodadvances.2023011572. doi: 10.1182/bloodadvances.2023011572. Online ahead of print.ABSTRACTThe ABO antigen weakness is rarely observed in ABO typing for transfusion. Hematologic diseases and associated gene mutations have been suggested as potential causes of this phenomenon, yet the precise etiology has not been elucidated. Through ABO typing and genetic analysis data conducted over 7 years, we have reconfirmed the association between ABO antigen weakness and hematologic diseases, especially acute myeloid leukemia (odds ratio (OR) 2.55, 95% confidence interval (CI) 1.12-5.83) and myelodysplastic...
Source: Adv Data - February 15, 2024 Category: Epidemiology Authors: Seung Jun Choi Hyun Kyung Kim Eun Jung Suh Soon Sung Kwon Saeam Shin Seung-Tae Lee Sinyoung Kim Source Type: research

CEBPA double mutations associated with ABO antigen weakness in hematologic diseases
Blood Adv. 2024 Feb 15:bloodadvances.2023011572. doi: 10.1182/bloodadvances.2023011572. Online ahead of print.ABSTRACTThe ABO antigen weakness is rarely observed in ABO typing for transfusion. Hematologic diseases and associated gene mutations have been suggested as potential causes of this phenomenon, yet the precise etiology has not been elucidated. Through ABO typing and genetic analysis data conducted over 7 years, we have reconfirmed the association between ABO antigen weakness and hematologic diseases, especially acute myeloid leukemia (odds ratio (OR) 2.55, 95% confidence interval (CI) 1.12-5.83) and myelodysplastic...
Source: Adv Data - February 15, 2024 Category: Epidemiology Authors: Seung Jun Choi Hyun Kyung Kim Eun Jung Suh Soon Sung Kwon Saeam Shin Seung-Tae Lee Sinyoung Kim Source Type: research

When inflammatory stressors dramatically change, disease phenotypes may transform between autoimmune hematopoietic failure and myeloid neoplasms
Aplastic anemia (AA) and hypoplastic myelodysplastic syndrome are paradigms of autoimmune hematopoietic failure (AHF). Myelodysplastic syndrome and acute myeloid leukemia are unequivocal myeloid neoplasms (MNs). Currently, AA is also known to be a clonal hematological disease. Genetic aberrations typically observed in MNs are detected in approximately one-third of AA patients. In AA patients harboring MN-related genetic aberrations, a poor response to immunosuppressive therapy (IST) and an increased risk of transformation to MNs occurring either naturally or after IST are predicted. Approximately 10%–15% of patients with...
Source: Frontiers in Immunology - February 15, 2024 Category: Allergy & Immunology Source Type: research

Analytical validation of a 37-gene next generation sequencing panel for myeloid malignancies and review of initial findings, including reclassification of Acute Myeloid Leukemias and Myelodysplastic Syndromes using the 2022 WHO/ICC/ELN guidelines
Myeloid neoplasms are clonal disorders that arise via acquisition of genetic mutations leading to excessive proliferation and defective differentiation. Mutational profiling is vital as it has implications on diagnosis, prognosis, and therapeutic decision making. Next generation sequencing (NGS) has become a mainstay in the evaluation of myeloid malignancies, as it enables efficient characterisation of multiple genetic changes. Herein the analytical validation of the 37-gene Archer VariantPlex Core Myeloid panel is reported, using 58 DNA specimens with 87 single nucleotide variants (SNV) and 23 insertions/deletions (INDEL)...
Source: Journal of Molecular Diagnostics - February 14, 2024 Category: Pathology Authors: Becky Leung, Hnin Aung, Adayapalam Nandini, Ghusoon Abdulrasool, Chiyan Lau, Louise Seymour Tags: Regular Article Source Type: research

Analytical Validation of a 37-Gene Next-Generation Sequencing Panel for Myeloid Malignancies and Review of Initial Findings, including Reclassification of Acute Myeloid Leukemias and Myelodysplastic Syndromes Using the 2022 World Health Organization/International Consensus Classification/European LeukemiaNet Guidelines
Myeloid neoplasms are clonal disorders that arise via acquisition of genetic mutations leading to excessive proliferation and defective differentiation. Mutational profiling is vital as it has implications for diagnosis, prognosis, and therapeutic decision-making. Next-generation sequencing (NGS) has become a mainstay in the evaluation of myeloid malignancies, as it enables efficient characterization of multiple genetic changes. Herein, the analytical validation of the 37-gene Archer VariantPlex Core Myeloid panel is reported, using 58 DNA specimens with 87 single-nucleotide variants and 23 insertions/deletions. (Source: J...
Source: Journal of Molecular Diagnostics - February 14, 2024 Category: Pathology Authors: Becky Leung, Hnin Aung, Adayapalam Nandini, Ghusoon Abdulrasool, Chiyan Lau, Louise Seymour Tags: Regular article Source Type: research

DDX41: exploring the roles of a versatile helicase
Biochem Soc Trans. 2024 Feb 13:BST20230725. doi: 10.1042/BST20230725. Online ahead of print.ABSTRACTDDX41 is a DEAD-box helicase and is conserved across species. Mutations in DDX41 have been associated with myeloid neoplasms, including myelodysplastic syndrome and acute myeloid leukemia. Though its pathogenesis is not completely known, DDX41 has been shown to have many cellular roles, including in pre-mRNA splicing, innate immune sensing, ribosome biogenesis, translational regulation, and R-loop metabolism. In this review, we will summarize the latest understandings regarding the various roles of DDX41, as well as highligh...
Source: Biochemical Society Transactions - February 13, 2024 Category: Biochemistry Authors: Lacey Winstone Yohan Jung Yuliang Wu Source Type: research

DDX41: exploring the roles of a versatile helicase
Biochem Soc Trans. 2024 Feb 13:BST20230725. doi: 10.1042/BST20230725. Online ahead of print.ABSTRACTDDX41 is a DEAD-box helicase and is conserved across species. Mutations in DDX41 have been associated with myeloid neoplasms, including myelodysplastic syndrome and acute myeloid leukemia. Though its pathogenesis is not completely known, DDX41 has been shown to have many cellular roles, including in pre-mRNA splicing, innate immune sensing, ribosome biogenesis, translational regulation, and R-loop metabolism. In this review, we will summarize the latest understandings regarding the various roles of DDX41, as well as highligh...
Source: Biochemical Society Transactions - February 13, 2024 Category: Biochemistry Authors: Lacey Winstone Yohan Jung Yuliang Wu Source Type: research

DDX41: exploring the roles of a versatile helicase
Biochem Soc Trans. 2024 Feb 13:BST20230725. doi: 10.1042/BST20230725. Online ahead of print.ABSTRACTDDX41 is a DEAD-box helicase and is conserved across species. Mutations in DDX41 have been associated with myeloid neoplasms, including myelodysplastic syndrome and acute myeloid leukemia. Though its pathogenesis is not completely known, DDX41 has been shown to have many cellular roles, including in pre-mRNA splicing, innate immune sensing, ribosome biogenesis, translational regulation, and R-loop metabolism. In this review, we will summarize the latest understandings regarding the various roles of DDX41, as well as highligh...
Source: Biochemical Society Transactions - February 13, 2024 Category: Biochemistry Authors: Lacey Winstone Yohan Jung Yuliang Wu Source Type: research

DDX41: exploring the roles of a versatile helicase
Biochem Soc Trans. 2024 Feb 13:BST20230725. doi: 10.1042/BST20230725. Online ahead of print.ABSTRACTDDX41 is a DEAD-box helicase and is conserved across species. Mutations in DDX41 have been associated with myeloid neoplasms, including myelodysplastic syndrome and acute myeloid leukemia. Though its pathogenesis is not completely known, DDX41 has been shown to have many cellular roles, including in pre-mRNA splicing, innate immune sensing, ribosome biogenesis, translational regulation, and R-loop metabolism. In this review, we will summarize the latest understandings regarding the various roles of DDX41, as well as highligh...
Source: Biochemical Society Transactions - February 13, 2024 Category: Biochemistry Authors: Lacey Winstone Yohan Jung Yuliang Wu Source Type: research

GSE225352 Glutaminase inhibition in combination with azacytidine in myelodysplastic syndromes: Clinical efficacy and correlative analyses
Contributors : Marina Konopleva ; Natalia BaranSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensMalignancies can become reliant on glutamine as an alternative energy source and as a facilitator of aberrant DNA methylation, thus implicating glutaminase (GLS) as a potential therapeutic target. We demonstrate preclinical synergy of telaglenastat (CB-839), a selective GLS inhibitor, when combined with azacytidine (AZA), in vitro and in vivo, followed by a phase Ib/II study of the combination in patients with advanced MDS. Treatment with telaglenastat/AZA led to an ORR of 70% with CR/mCRs...
Source: GEO: Gene Expression Omnibus - February 12, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research

Azacitidine induced lung injury: report and contemporary discussion on diagnosis and management
Azacitidine, a hypomethylating agent, has caused a paradigm shift in the outcomes of patients with myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) who are not eligible for stem cell transplantation, particularly in combination with BCL2 and IDH inhibitors. Azacitidine and Azacitidine-based combinations have been widely considered a safe low-intensity therapy when compared to traditional conventional treatments. The development of lung toxicity from azacitidine is not a well-characterized adverse event. However, if it happens, it can be fatal, especially if not recognized and treated promptly. In this review...
Source: Frontiers in Oncology - February 9, 2024 Category: Cancer & Oncology Source Type: research

The clinical outcomes of haploidentical stem cell transplantation (haplo-HSCT) for patients with therapy-related myelodysplastic syndrome: comparable to de novo myelodysplastic syndrome
This study aimed to estimate and compare the clinical outcomes of haploidentical stem cell transplantation (haplo-HSCT) for t-MDS and de novo MDS. We retrospectively analyzed 96 patients with MDS who received haplo-HSCT between January 2015 and December 2021. Eleven patients with t-MDS and 85 patients with de novo MDS were matched using the case-pair method in a 1:8 ratio with the following pairing criteria: (1) sex, (2) age ( ± 5 years), (3) year of haplo-HSCT (± 2 years), and (4) blast cell counts (≥ 5% or not). The 3-year overall survival and disease-free survival after haplo-HSCT for t-MDS versus de novo MD...
Source: Clinical and Experimental Medicine - February 8, 2024 Category: Research Source Type: research