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Curr Hematol Malig Rep 2022 Jun 25. Epub 2022 Jun 25.

Diagnostic Laboratories, Versiti, 638 N 18th St, Milwaukee, WI, 53233, USA.

Purpose Of Review: This review describes ANKRD26-related thrombocytopenia (RT) from a molecular, clinical, and laboratory perspective, with a focus on the clinical decision-making that takes place in the diagnosis and management of families with ANKRD26-RT.

Recent Findings: ANKRD26-related thrombocytopenia (ANKRD26-RT) is a non-syndromic autosomal dominant thrombocytopenia with predisposition to hematologic neoplasm. The clinical presentation is variable with moderate thrombocytopenia with normal platelet size and absent to mild bleeding being the hallmark which makes it difficult to distinguish from other inherited thrombocytopenias. Read More

J Thromb Haemost 2022 Jun 25. Epub 2022 Jun 25.

Division of Hematology, Department of Medicine, University of Alberta, Edmonton, Alberta, Canada.

Background: The diagnosis of immune thrombocytopenia (ITP) is one of exclusion. While guidelines recommend against routine bone marrow examination (BME) at time of ITP diagnosis, the role of BME in relapsed/refractory ITP is unclear.

Objectives: To examine the frequency and predictors of BME in relapsed/refractory ITP. Read More

Br J Haematol 2022 Jun 24. Epub 2022 Jun 24.

Department of Malignant Hematology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA.

Splicing factor 3B subunit 1 (SF3B1) somatic mutation in the context of therapy-related myelodysplastic syndromes (t-MDS) has not been well defined. In a large cohort of patients with MDS, those with known SF3B1 somatic mutation were compared as de novo MDS (n = 289) and t-MDS with mutant SF3B1 (SF3B1 ; n = 31). Baseline characteristics, concomitant mutations, and acute myeloid leukaemia (AML) transformation were similar between the two groups. Read More

Blood Cancer J 2022 Jun 24;12(6):93. Epub 2022 Jun 24.

Division of Hematology and Oncology, Mayo Clinic, Jacksonville, FL, USA.

J Clin Pharm Ther 2022 Jun 24. Epub 2022 Jun 24.

Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

What Is Known And Objective: Patients with low-risk myelodysplastic syndrome (MDS) and aplastic anaemia (AA) often need transfusions, which may accelerate iron overload. The aim of this study was to evaluate the efficacy, safety and dose-effect relationships of deferasirox (DFX) in patients with low-risk MDS and AA who were refractory to regular treatment in a real-world setting.

Methods: Patient data were recorded, and dose-effect relationships of DFX were calculated after the first 6 months. Read More

Ther Adv Hematol 2022 17;13:20406207221090882. Epub 2022 Jun 17.

Medizinische Klinik und Poliklinik I, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

Introduction: Azacitidine (AZA) either single-agent or with donor lymphocytes infusions (DLI) has been used as a salvage treatment for acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS) relapsing after allogeneic hematopoietic stem cell transplantation (HSCT). To date, the majority of data come from patients relapsed after HSCT from full-matched donors.

Methods: We report a multicenter, collaborative, retrospective analysis of 71 patients with hematologic ( = 40, 56%) and molecular relapse ( = 31, 44%) of myeloid neoplasms after HSCT from alternative donors (mismatched unrelated,  = 39, 55%; haploidentical,  = 29, 41%) consecutively treated at three European centers with AZA ± DLI. Read More

Cancers (Basel) 2022 Jun 16;14(12). Epub 2022 Jun 16.

Department of Hematology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200000, China.

The prognostic significance of bone marrow fibrosis (MF) grade in patients with myelodysplastic syndrome (MDS) is still debated and the molecular changes remain unclear. In our large cohort, a normal reticulum was found in 211 (25.9%) patients, whereas MF1, MF2 and MF3 were detected in 478 (58. Read More

Cancers (Basel) 2022 Jun 13;14(12). Epub 2022 Jun 13.

Department of Clinical Science, University of Bergen, 5020 Bergen, Norway.

Allogeneic stem cell transplantation is used in the treatment of high-risk hematological malignancies. However, this treatment is associated with severe treatment-related morbidity and mortality. The metabolic status of the recipient may be associated with the risk of development of transplant-associated complications such as graft-versus-host disease (GVHD). Read More

Biochem Biophys Res Commun 2022 Jun 10;619:62-67. Epub 2022 Jun 10.

Chenghai Dongli Central Health Centre, Shantou, 515829, China.

Hepatic iron overload is a universal phenomenon in patients with myelodysplastic syndromes (MDS) who undergo bone marrow transplantation and may experience the toxicity of peri- and post-bone marrow transplantation. To clarify the mechanisms of iron overload-triggered liver injury, we determined the effects of iron overload on changes in protein phosphorylation in human hepatocyte cell line HH4 in vitro by using a phosphoproteomics approach. The hepatocytes were exposed to high concentrations of ferric ammonium citrate (FAC) to build up an iron overload model in vitro. Read More

Diseases 2022 Jun 10;10(2). Epub 2022 Jun 10.

Department of Haematology, Faculty of Medicine, School of Health Sciences, University of Ioannina, 45500 Ioannina, Greece.

Bone marrow, besides the known functions of hematopoiesis, is an active organ of the immune system, functioning as a sanctuary for several mature immune cells. Moreover, evidence suggests that hematopoietic stem cells (the bone marrow's functional unit) are capable of directly sensing and responding to an array of exogenous stimuli. This chronic immune stimulation is harmful to normal hematopoietic stem cells, while essential for the propagation of myeloid diseases, which show a dysregulated immune microenvironment. Read More

Haematologica 2022 Jun 23. Epub 2022 Jun 23.

Department of Hematology and Medical Oncology, Mayo Clinic, Jacksonville, FL.

Not available. Read More

J Clin Exp Hematop 2022 Jun 22. Epub 2022 Jun 22.

Division of Hematology and Oncology, Department of Internal Medicine, St. Marianna University School of Medicine, Kanagawa, Japan.

The introduction of lenalidomide has significantly improved clinical outcomes in myelodysplastic syndrome (MDS) with isolated interstitial deletion of the long arm of chromosome 5 (del(5q)) (5q- syndrome). These days, MDS with isolated del(5q) includes cases with one additional chromosome abnormality other than monosomy 7 or del(7q), and so we need a better way to monitor tumor cells in each patient than the clinical parameters used to date. An 82-year-old woman with MDS with isolated del(5q) was treated with lenalidomide daily for 21 days in a 4-week cycle. Read More

Clin Adv Hematol Oncol 2022 Jun;20(6):375-383

University of Pennsylvania, Perelman Center for Advanced Medicine, Philadelphia, Pennsylvania.

The recent identification of the potential for clonal replication in patients with unexplained cytopenias, resulting in myelodysplastic syndrome (MDS) or myeloid malignancies, has opened the way to identifying a new precursor entity: clonal cytopenia of undetermined significance (CCUS). CCUS has come into the spotlight in recent years with the detection of molecular abnormalities in cytogenetic studies, fluorescence in situ hybridization, and next-generation sequencing. Several clinical trials and retrospective studies are underway to examine further the associated mutation profiles, study the progression of CCUS to MDS or myeloid neoplasm, and investigate potential treatment options. Read More

Clin Lymphoma Myeloma Leuk 2022 May 2. Epub 2022 May 2.

OPEN Health, Bethesda, MD.

Introduction/background: Therapy with infused or injected hypomethylating agents (HMAs) may lead to higher treatment administration burden (ie, local reaction, visit frequency and duration) vs. oral HMAs.

Objectives: To reveal preferences of US and Canadian patients with myelodysplastic syndromes (MDS) for HMAs' benefits, risks, and administration burden through an online discrete-choice experiment (DCE). Read More

Blood Adv 2022 Jun 21. Epub 2022 Jun 21.

Sylvester Comprehensive Cancer Center, University of Miami, Miami, Ohio, United States.

PANTHER was a global, randomized phase 3 trial of pevonedistat plus azacitidine (n = 227) vs azacitidine monotherapy (n = 227) in patients with newly diagnosed higher-risk myelodysplastic syndromes (MDS) (n = 324), higher-risk chronic myelomonocytic leukemia (n = 27), or acute myeloid leukemia (AML) with 20-30% blasts (n = 103). The primary endpoint was event-free survival (EFS). In the intent-to-treat (ITT) population median EFS was 17. Read More

Leuk Res Rep 2022 2;17:100332. Epub 2022 Jun 2.

Department of Hematology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.

Hereditary spherocytosis (HS) is the most prevalent red blood cell (RBC) membrane disorder. We report a rare case of acquired spherocytosis coinciding with a myelodysplastic syndrome associated mutation, neither found in germline DNA. The diagnosis was confirmed by Eosin-5-Maleimide binding assay and Next Generation Sequencing (NGS). Read More

Transfusion 2022 Jun 19. Epub 2022 Jun 19.

McMaster University, Hamilton, Canada.

Transplant Cell Ther 2022 Jun 15. Epub 2022 Jun 15.

Nemours Center for Cancer and Blood Disorders, Alfred I. DuPont Hospital for Children, Wilmington, DE.

The role of allogeneic hematopoietic stem cell transplantation (HCT) in the therapy of acute myeloid leukemia (AML) in children is reviewed and critically evaluated in this evidence-based review. Specific criteria were used for searching the published literature, for grading the quality and strength of evidence, and for assigning a strength of treatment recommendation. Genomic characterization and response to therapy have been critical in the risk stratification of pediatric AML. Read More

Transplant Cell Ther 2022 Jun 14. Epub 2022 Jun 14.

State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, 300020, China.

Background: Natural killer (NK) cells are the first lymphocyte population to recover after allogenic hematopoietic stem cell transplantation (allo-HSCT) and mediate potent graft versus leukemia (GVL) effect particularly in the settings of T-cell depletion. However, the significance of NK cells after unmanipulated transplantation is less clear and factors affecting early NK reconstitution remain elusive.

Objectives And Study Design: We retrospectively analyze 180 patients with acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS) who received unmanipulated allografts. Read More

Clin Lymphoma Myeloma Leuk 2022 May 21. Epub 2022 May 21.

Service d'Hématologie Séniors, Hôpital Saint-Louis, Assistance Publique Hôpitaux de Paris, Université de Paris, France.

Background: For patients with lower-risk (LR) myelodysplastic syndromes (MDS), overall survival (OS) is rarely a primary clinical trial endpoint. Treatments such as lenalidomide can reduce red blood cell (RBC) transfusion burden (TB) and serum ferritin, but the long-term impact on OS remains undetermined.

Patients And Methods: Data from 3 trials evaluating lenalidomide in patients with LR-MDS (the phase 2 MDS-003 and phase 3 MDS-004 trials in del[5q]; the phase 3 trial MDS-005 in non-del[5q] patients) were pooled. Read More

Blood Cancer Discov 2022 Jun 16:OF1-OF16. Epub 2022 Jun 16.

Division of Oncology, Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri.

Progression from myelodysplastic syndromes (MDS) to secondary acute myeloid leukemia (AML) is associated with the acquisition and expansion of subclones. Our understanding of subclone evolution during progression, including the frequency and preferred order of gene mutation acquisition, remains incomplete. Sequencing of 43 paired MDS and secondary AML samples identified at least one signaling gene mutation in 44% of MDS and 60% of secondary AML samples, often below the level of standard sequencing detection. Read More

Blood Cancer Discov 2022 Jun 16:OF1-OF3. Epub 2022 Jun 16.

Division of Hematology, Brigham and Women's Hospital, Boston, Massachusetts.

Summary: Myelodysplastic syndrome (MDS) describes a family of blood disorders driven by the clonal expansion of mutated blood cells that can evolve into secondary acute myeloid leukemia (sAML). Two new studies use single-cell and deep sequencing to elucidate the progression of MDS to AML, revealing discrete clonal architectures and the driving role of signaling mutations. Read More

PLoS One 2022 16;17(6):e0269749. Epub 2022 Jun 16.

Regeneron Pharmaceuticals, Inc., Tarrytown, New York, United States of America.

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disease caused by uncontrolled complement activation; effective and approved treatments include terminal complement inhibition. This study assessed whether combination cemdisiran (an investigational N-acetylgalactosamine-conjugated RNAi therapeutic that suppresses liver production of complement component C5) and pozelimab (an investigational fully human monoclonal antibody against C5) results in more effective and durable complement activity inhibition than the individual agents alone in non-human primates. Cynomolgus monkeys received a single subcutaneous injection of cemdisiran (5 or 25 mg/kg), pozelimab (5 or 10 mg/kg), or combination cemdisiran and pozelimab (5+5 mg/kg, 5+10 mg/kg, or 25+10 mg/kg, respectively). Read More

J Cutan Pathol 2022 Jun 15. Epub 2022 Jun 15.

Department of Dermatology, School of Medicine, Chungnam National University, Daejeon, Republic of Korea.

Malignant melanoma may rarely exhibit divergent differentiation, in which melanocytic markers may be lost, leading to difficulty in diagnosis. A 64-year-old man recently diagnosed with myelodysplastic syndrome complained of development of a nodule in a melanocytic nevus on his scalp. On histopathologic examination, junctional nevus nests and diffuse cellular infiltrations with a sheet-like growth pattern of pleomorphic epithelioid cells were observed in the upper dermis. Read More

Glob Med Genet 2022 Jun 8;9(2):141-151. Epub 2022 Apr 8.

State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, China.

 Chronic myelomonocytic leukemia (CMML) is a myeloid neoplasm with features of the myelodysplastic syndromes (MDSs) and myeloproliferative neoplasm presenting with peripheral blood monocytosis and an inherent risk for transformation to acute myeloid leukemia, while the abnormal DNA methylation plays a critical role in the pathogenesis of MDS, which is a disease of disordered differentiation. Recently, with the rapid development of molecular biology, hypomethylating agents (HMAs) for the treatment of MDS has gradually become a research focus. The objective of this study was to evaluate the benefits and risks of HMAs for patients with CMML. Read More

Cureus 2022 May 12;14(5):e24933. Epub 2022 May 12.

Emergency Medicine, Dr. Sampurnanand Medical College, Jodhpur, IND.

Background Pancytopenia is a common hematological condition encountered in clinical practice. Because there is a wide variation in causes of pancytopenia even in different populations of the same geographical region, identifying the pattern of underlying etiologies is crucial for proper management. This study was conducted to evaluate the clinico-hematological profile and different etiologies of pancytopenia among adults presenting to a clinical hematology department at a tertiary care hospital of Western India. Read More

Eurasian J Med 2022 Jun;54(2):181-185

Department of Medical Genetics, Atatürk University Faculty of Medicine, Erzurum, Turkey.

Objective: Myeloid malignancies are heterogeneous disorders due to defective hematopoiesis and myeloid differentiation of hematopoietic stem/progenitor cell. The molecular landscape of the diseases is complex. Molecular alterations are used for classification and evaluation of prognosis and treatment. Read More

Oncol Rep 2022 Aug 15;48(2). Epub 2022 Jun 15.

WorldWide Medical Center, Huashan Hospital of Fudan University, Shanghai 200040, P.R. China.

Following the publication of the above paper, the authors have realized that the cell apoptosis and cell proliferation assays in Fig. 8 were poorly presented, which made the interpretation of the data difficult. Furthermore, a change was also required to the text concerning the description of Fig. Read More

Leuk Lymphoma 2022 Jun 14:1-8. Epub 2022 Jun 14.

Division of Hematology, Sylvester Comprehensive Cancer Center, University of Miami, Miami, FL, USA.

Myelodysplastic syndromes (MDS) are a heterogeneous spectrum of clonal stem cell disorders characterized by ineffective hematopoiesis and resulting peripheral blood cytopenias. Clinical manifestations of the disorder are varied and range from mild asymptomatic anemia to a markedly truncated life expectancy, underscoring the importance of risk-adapted therapy. MDS therapy for both lower- and higher-risk patients is an area of immense therapeutic opportunity. Read More

Hepatol Commun 2022 Jun 14. Epub 2022 Jun 14.

Liver Institute Northwest and Elson S. Floyd College of Medicine, Washington State University, Washington, USA.

Iron overload disorders represent a variety of conditions that lead to increased total body iron stores and resultant end-organ damage. An elevated ferritin and transferrin-iron saturation can be commonly encountered in the evaluation of elevated liver enzymes. Confirmatory homeostatic iron regulator (HFE) genetic testing for C282Y and H63D, mutations most encountered in hereditary hemochromatosis, should be pursued in evaluation of hyperferritinemia. Read More