Efficacy of Ruxolitinib in the management of chronic GVHD.

Objectives: Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is a potentially curative treatment for hematological diseases, with success rates improving due to advancements in conditioning regimens and new anti-graft versus host disease (GVHD) drugs. Ruxolitinib, an oral selective Janus kinase (JAK) 1 and 2 inhibitor has been used to mitigate the effects of various inflammatory and myeloproliferative syndromes, given the JAK kinase pathway's central role in cytokine signaling during inflammatory and immune processes. In this study we aimed to assess ruxolitinib's efficacy in patients with chronic GVHD (cGVHD).

Evaluation of HOTAIR, HOXD8, HOXD9, HOXD11 gene expression levels in Turkish patients with acute and chronic myeloid leukemia: A single center experience.

Homeobox (HOX) transcript antisense RNA (HOTAIR) and HOX genes are reported to be more expressed in various cancers in humans in recent studies. The role of HOTAIR and HOXD genes in acute myeloid leukemia (AML) and chronic myeloid leukemia (CML) is not well known. In this study, expression levels of HOXD8, HOXD9 and HOXD11 from HOXD gene family and HOTAIR were determined from peripheral blood samples of 30 AML and 30 CML patients and 20 healthy volunteers by quantitative Real Time PCR.

Development and alpha-testing of a patient decision aid for patients with chronic myeloid leukemia regarding dose reduction.

Background: Dose reduction of tyrosine kinase inhibitors (TKIs) is an option for some chronic myeloid leukemia (CML) patients to minimize side effects while maintaining efficacy. Shared decision-making (SDM) and patient decision aids (PDAs) are advocated to make informed choices such as reducing the dose of TKIs. This paper describes the development and alpha-testing of a PDA for patients with CML receiving TKI dose reduction.

Causal relationship between 731 immune cells and the risk of myeloproliferative neoplasms: A 2-sample bidirectional Mendelian randomization study.

Myeloproliferative neoplasms (MPN) are chronic hematological disorders marked by the abnormal proliferation of bone marrow cells. The most commonly encountered forms are polycythemia vera (PV), primary myelofibrosis (PMF), and essential thrombocythemia (ET). These disorders are generally associated with increases in blood components, which can lead to conditions like splenomegaly, thrombosis, bleeding tendencies, and a heightened risk of progressing to acute leukemia.

Whole exome sequencing analysis of a patient with myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions with ETV6::LYN fusion gene.

ETV6::LYN fusion gene is recognized as one of the genetic alterations responsible for myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions (MLN-TK) according to the 2022 WHO classification. However, the clinical features and pathogenesis of MLN-TK with ETV6::LYN are not well defined because of the rarity of the disease. Here, we report an MLN-TK patient with ETV6::LYN that manifested as myeloproliferative neoplasms (MPN) with eosinophilia, myelofibrosis, and T-lymphoblastic lymphoma (T-LBL), which eventually led to acute myeloid leukemia.

Emerging functions of FMNL1 in myeloid neoplasms: insights from bioinformatics to biological and pharmacological landscapes.

Background: Myeloid neoplasms encompass disorders characterized by abnormal myeloid cell proliferation and differentiation, including myelodysplastic syndromes (MDS), myeloproliferative neoplasms, acute myeloid leukemia (AML), and chronic myeloid leukemia (CML). Formin-like protein 1 (FMNL1) is involved in the regulation of the actin cytoskeleton and is predominantly expressed in hematopoietic cells. Given its role in leukemia cell proliferation, survival, migration, and invasion, this study investigates FMNL1 expression in normal hematopoiesis and myeloid neoplasms and explores associations with clinical-laboratory characteristics, mutational status, and survival outcomes in AML.

Asciminib add-on to imatinib demonstrates sustained high rates of ongoing therapy and deep molecular responses with prolonged follow-up in the ASC4MORE study.

Background: Up to 65% of patients with chronic myeloid leukemia (CML) who are treated with imatinib do not achieve sustained deep molecular response, which is required to attempt treatment-free remission. Asciminib is the only approved BCR::ABL1 inhibitor that Specifically Targets the ABL Myristoyl Pocket. This unique mechanism of action allows asciminib to be combined with adenosine triphosphate-competitive tyrosine kinase inhibitors to prevent resistance and enhance efficacy.

Evaluation of gecacitinib vs hydroxyurea in patients with intermediate-2 or high-risk myelofibrosis: final analysis results from a randomized phase 3 study.

To compare the efficacy and safety of gecacitinib (also known as jaktinib) with hydroxyurea (HU) in treating myelofibrosis (MF) patients. In this multicenter, randomized phase 3 trial (ZGJAK016), intermediate- or high-risk primarily JAK inhibitor naïve MF patients were assigned in a 2:1 ratio to receive either gecacitinib (100 mg twice a day, BID) or HU (500 mg BID). The primary endpoint was the proportion of patients with ≥35% reduction in spleen volume (SVR35) from baseline at week 24.

Essential thrombocytosis transformed AML with TP53 mutations and its clinical implications.

Essential thrombocytosis (ET) is a chronic myeloproliferative neoplasm. There is a rare possibility of its transformation from ET into acute myeloid leukemia (AML). While the TP53 mutation is a well-known risk factor for AML, limited research exists regarding ET patients who develop AML with TP53 mutations.

Factors distinguishing leukemoid reaction from hematological malignancy in children.

Background: Information on the etiology and prognosis for leukemoid reaction (LR) in children is still limited and little is known about the factors that distinguish LR from hematological malignancy (HM).

Methods: This was a single-center, case-control study. Pediatric patients (<18 years) with a white blood cell (WBC) count of 50,000/μL or more were included in the study.

Classification and Prognostic Stratification Based on Genomic Features in Myelodysplastic and Myeloproliferative Neoplasm- and Their Overlapping Conditions.

: Myeloid neoplasms encompass a diverse group of disorders. In this study, we aimed to analyze the clinical and genomic data of patients with myeloproliferative neoplasm (MPN), myelodysplastic neoplasm (MDS), and their overlapping conditions, such as MDS/MPN and aplastic anemia (AA), to help redefine the disease classification. : Clinico-genomic data of 1585 patients diagnosed with MPN ( = 715), MDS ( = 698), MDS/MPN ( = 78), and AA ( = 94) were collected.

Biological Markers of Myeloproliferative Neoplasms in Children, Adolescents and Young Adults.

Myeloproliferative neoplasms (MPNs) are clonal hematopoietic cancers characterized by hyperproliferation of the myeloid lineages. These clonal marrow disorders are extremely rare in pediatric patients. MPN is reported to occur 100 times more frequently in adults, and thus research is primarily focused on this patient group.

Coexistence of tubulocystic renal cell carcinoma and polycythemia vera: A rare case report.

Tubulocystic Renal Cell Carcinoma (TC-RCC) and Polycythemia Vera (PV) are both infrequent medical conditions. TC-RCC was recognized as a distinct subtype of kidney cancer by the World Health Organization in 2016, while PV is a rare myeloproliferative neoplasm distinguished by the excessive production of red blood cells. The coexistence of these two conditions is exceptionally uncommon and lacks comprehensive documentation.

Evi1 governs Kdm6b-mediated histone demethylation to regulate the Laptm4b-driven mTOR pathway in hematopoietic progenitor cells.

Ecotropic viral integration site 1 (EVI1/MECOM) is frequently upregulated in myeloid malignancies. Here, we present an Evi1-transgenic mouse model with inducible expression in hematopoietic stem/progenitor cells (HSPCs). Upon induction of Evi1 expression, mice displayed anemia, thrombocytopenia, lymphopenia, and erythroid and megakaryocyte dysplasia with a significant expansion of committed myeloid progenitor cells, resembling human myelodysplastic syndrome/myeloproliferative neoplasm-like (MDS/MPN-like) disease.

JAK2 p.R564 germ line variants associated with hereditary thrombocythemia and hematologic neoplasms.

The Janus kinase 2 (JAK2) V617F mutation activates the transcription pathway and has been well-characterized as a driver of myeloproliferative neoplasms (MPNs). Recently, there has been a heightened interest in understanding germline predisposition to hematological malignancies including MPN, including several reports of familial MPN. Here, we retrospectively analyzed medical records and data from genetic testing to describe twelve patients with germline variants at amino acid position 564 of JAK2.

[The role of cytogenetic tests in the diagnosis of malignant hematologic diseases].

In malignant hematological diseases, clonal genetic alterations, such as chromosomal aberrations and gene mutations, are responsible for the uncontrolled division of abnormal hemopoietic cells. The detection of clonal variants has not only diagnostic, but also prognostic and therapeutic significance. They enable risk-based differentiated treatment of patients and the use of targeted (genotype-specific) therapies.

Outcomes and Risk Factors in Patients with Hematologic Malignancies Following Late-Stage SARS-CoV-2 Infection.

Purpose: To investigate the outcomes and risk factors for patients with hematologic malignancies (HM) following late-stage SARS-CoV-2 infection.

Background: Patients with HM such as lymphoproliferative malignancies (including acute lymphoblastic leukemia and multiple myeloma) and myeloproliferative malignancies (including acute myeloid leukemia, myeloproliferative neoplasm, and myelodysplastic syndrome) are at increased risk of severe illness and high mortality from COVID-19. This study examines the impact of SARS-CoV-2 infection severity on HM prognosis during the late phase of COVID-19, using data from 203 patients at Shanxi Bethune Hospital.

Haematological setpoints are a stable and patient-specific deep phenotype.

The complete blood count (CBC) is an important screening tool for healthy adults and a common test at periodic exams. However, results are usually interpreted relative to one-size-fits-all reference intervals, undermining the precision medicine goal to tailor care for patients on the basis of their unique characteristics. Here we study thousands of diverse patients at an academic medical centre and show that routine CBC indices fluctuate around stable values or setpoints, and setpoints are patient-specific, with the typical healthy adult's nine CBC setpoints distinguishable as a group from those of 98% of other healthy adults, and setpoint differences persist for at least 20 years.

Muscle contractile properties and perceived fatigue in the general and diseased population.

Knowledge of muscle contractile properties, physical fitness, and their associations with perceived fatigue may provide insights into mechanisms inducing fatigue and treatment targets. We aimed to identify differences in contractile properties and physical fitness between populations, and examine associations with perceived fatigue. We pooled data on perceived fatigue, physical fitness, and contractile properties from six studies, including a control group (n = 90), cancer survivors (n = 27), patients with chronic obstructive pulmonary disease (COPD; n = 16), chronic myeloid leukemia (CML; n = 20), and statin users (n = 64).

Prevalence of JAK 2 v617 Mutations in Malignant and Non-Malignant Tumors in the Eastern Province of the Kingdom of Saudi Arabia.

Background: Janus kinase II (JAK 2) mutation plays a critical part in the pathophysiology of myeloid pathologies and has been presented to be tangled in thrombotic obstacles of these sicknesses. This study documents the prevalence of JAK 2 v617 mutations in malignant and non-malignant tumors in the Eastern province of the Kingdom of Saudi Arabia.

Methods: A total of 112 patients were included in the current study between June 2022 and May 2023 at the Molecular Biology Laboratory of the King Fahad Hospital of the University, AlKhobar, Saudi Arabia.

JAK2-V617F mutation among blood donors: A meta-analysis.

Objectives: To systematically review evidence on the prevalence of the JAK2V617F (JAK2) mutation and polycythemia vera (PV) among all blood donors, focusing on those with elevated hematocrit. Although blood donors are generally healthy, considering a preclinical stage of myeloproliferative neoplasm, especially in those with polycythemia, is crucial. Evidence on managing these donors is limited.

Polycythemia vera with acute coronary syndrome and bleeding as initial presentation: A case report and literature review.

Polycythemia vera (PV) is a chronic myeloproliferative disorder characterized by increased red blood cell mass, leading to a heightened risk for thrombosis and hemorrhage. While thrombotic complications such as stroke, deep vein thrombosis, and pulmonary embolism are commonly associated with PV, coronary artery syndromes, as the initial presentation, are rare. Here, we present the case of a 73-year-old male who presented with severe chest pain and was diagnosed with non-ST-elevation myocardial infarction (NSTEMI).

Prognostic significance of LOXL2 enzyme activity in primary myelofibrosis.

Primary myelofibrosis (PMF) is characterized by bone marrow fibrosis, but the underlying molecular mechanisms remain incompletely understood. Here, we investigated the role of lysyl oxidase-like 2 (LOXL2), an enzyme involved in extracellular matrix remodeling, in PMF pathogenesis. Analysis of bone marrow cells from PMF patients revealed significantly elevated LOXL2 mRNA expression compared to healthy controls, which was further validated using 2 independent Gene Expression Omnibus datasets (GSE26049 and GSE12234).