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Eur J Med Genet 2021 Jun 9:104260. Epub 2021 Jun 9.

Department of Pediatrics III, University Hospital Essen, University of Duisburg-Essen, 45122 Essen, Germany; Department of Otorhinolaryngology & Head/Neck Surgery, University Hospital Düsseldorf, Heinrich Heine University, 40225 Düsseldorf, Germany. Electronic address:

Fanconi anemia (FA) due to biallelic mutations in the BRCA2 gene is very rare and associated with an extremely high risk of early-onset of aggressive childhood malignancies, predominantly brain tumors, leukemia, and nephroblastoma. Here, we present a consanguineous family with three affected children of the D1 subtype of FA and describe the clinical consequences of the earliest known biallelic nonsense/stop-gain germ-line mutation in BRCA2, exon 5 c.469A>T, that leads to a premature stop of translation, p. Read More

J Magn Reson Imaging 2021 Jun 11. Epub 2021 Jun 11.

Radiology Department, The First Affiliated Hospital of Zhejiang Chinese Medical University, Hangzhou, China.

Background: Bone marrow of patients with aplastic anemia (AA) is different from that of patients with myelodysplastic syndrome (MDS) and is difficult to identify by blood examination. IDEAL-IQ (iterative decomposition of water and fat with echo asymmetry and least-squares estimation) imaging might be able to quantify fat fraction (FF) and iron content in bone tissues.

Purpose: To determine if IDEAL-IQ measurements of bone marrow FF and iron content can distinguish between patients with AA and MDS. Read More

Blood 2021 Jun 3. Epub 2021 Jun 3.

Vanderbilt University School of Medicine, Nashville, Tennessee, United States.

Recently, encouraging data provided long-awaited hope for gene therapy as a cure for sickle cell disease (SCD). Nevertheless, the suspension of the bluebird bio gene therapy trial (ClinicalTrials.gov: NCT02140554) after participants developed acute myeloid leukemia/myelodysplastic syndrome (AML/MDS) is concerning. Read More

Leuk Lymphoma 2021 Jun 11:1-6. Epub 2021 Jun 11.

Malignant Hematology Department, H Lee Moffitt Cancer Center & Research Institute, Tampa, FL, USA.

Hypomethylating agents (HMAs) are the standard of care for higher risk MDS (HR-MDS) patients. The current dogma is to begin HMA therapy in all HR-MDS patients at the time of initial diagnosis. We investigated the impact of the timing of HMA initiation among HR-MDS patients presenting with adequate blood counts to discern the possible benefit of early treatment based solely on disease risk. Read More

Leuk Res Rep 2021 14;15:100244. Epub 2021 May 14.

Department of Hematopathology and Lab Medicine, Moffitt Cancer Center, Tampa, FL, USA.

Introduction: Myelodysplastic syndrome (MDS) are hematologic neoplasms characterized by morphologic dysplasia and ineffective hematopoiesis in the bone marrow. The only potentially curative therapy is stem cell transplant. However, relapse remains a major challenge and is seen in about 25-40% of cases. Read More

Biomark Res 2021 Jun 10;9(1):46. Epub 2021 Jun 10.

Key Laboratory for Regenerative Medicine of Ministry of Education, Institute of Hematology, Jinan University, 510632, Guangzhou, PR China.

Myelodysplastic syndrome (MDS) is an aggressive and genetically heterogeneous disease with poor prognosis. Cellular immune disorder is a common characteristic of this disease and is thought to be related to clinical outcome. Alterations in T cell clonal expansion and T cell dysfunction has been detected in MDS patients. Read More

Blood 2021 Jun 10. Epub 2021 Jun 10.

University Hospital Ulm, Ulm, Germany.

Patients with acute myeloid leukemia (AML) have conventionally received more "intense" therapy than patients with myelodysplastic syndromes (MDS). Although less intense therapies are being used more often in AML, the AML-MDS dichotomy remains, with the presence of ≥ 20% myeloblasts in marrow or peripheral blood generally regarded as defining AML. Consequently, patients with 19% blasts are typically ineligible for AML studies, with patients with 21% blasts ineligible for MDS studies. Read More

Rinsho Ketsueki 2021 ;62(5):463-471

Department of Hematology and Oncology, Osaka University Graduate School of Medicine.

Following the reports of paroxysmal nocturnal hemoglobinuria (PNH) due to PIGT and PIGB gene mutations, the definition of PNH was changed to a hematopoietic stem cell disease with complement-mediated intravascular hemolysis as a result of clonal expansion of hematopoietic stem cells with mutations in genes involved in glycosylphosphatidylinositol (GPI) anchor synthesis, including PIGA. Treatment with eculizumab (Soliris), a humanized anti-C5 monoclonal antibody, significantly improved the quality of life in patients with PNH, remarkably reduced hemolysis, improved symptoms associated with hemolysis, and prevented thrombosis. Although the administration interval has been extended and convenience has been greatly improved using the technique of recycling antibodies (ravulizumab and crovalimab), extravascular hemolysis has become another issue. Read More

Rinsho Ketsueki 2021 ;62(5):378-387

Department of Hematology and Oncology, Osaka University Graduate School of Medicine.

Paroxysmal nocturnal hemoglobinuria (PNH) is a hematopoietic stem cell disease whose main symptom is complement-mediated intravascular hemolysis as a result of the clonal expansion of hematopoietic stem cells having mutations in genes involved in glycosylphosphatidylinositol (GPI) anchor synthesis including PIGA. With the advent of a humanized anti-C5 monoclonal antibody (eculizumab), the inhibitory effect on hemolysis, improvement in its various complicating symptoms, and preventive effect on thrombus formation were observed. In addition, the QOL in patients with PNH was significantly improved. Read More

Rinsho Ketsueki 2021 ;62(5):352-359

Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University.

STAG2 and other cohesin complex components are mutated in ∼10-15% of myeloid neoplasms, particularly in myelodysplastic syndrome (MDS) and secondary acute myeloid leukemia. STAG2 mutations often coincide with other driver mutations, such as RUNX1, SRSF2, and ASXL1, suggesting a strong functional interaction among these mutations in myeloid neoplasms. To elucidate the mechanism of cohesin-induced leukemogenesis, we generated Stag2 conditional knockout (KO) mice but they only exhibited relatively mild hematopoietic abnormalities and did not develop lethal myeloid neoplasms. Read More

Clin Lab 2021 Jun;67(6)

Background: Isochromosome 11q in patients with acute myeloid leukemia is rarely reported, and little is known about its main features.

Methods: The presence of isochromosome 11q was identified in four patients (three adults and one child) from screening 441 patients with an acute myeloid leukemia diagnosis between 2009 and 2018 by using R-banding and fluorescence in situ hybridization.

Results: The child, patient 1 with unreported isochromosome (partial 11q isochromosome), accompanied with t(1;11) translocation, initially achieved remission after receiving chemotherapy. Read More

J Clin Oncol 2021 Jun 9:JCO2003380. Epub 2021 Jun 9.

Dana Farber Cancer Institute, Boston, MA.

Purpose: Allogeneic hematopoietic cell transplantation (HCT) is the only potentially curative therapy for myelodysplastic syndromes (MDS), although it is infrequently offered to older patients. The relative benefits of HCT over non-HCT therapy in older patients with higher-risk MDS have not been defined.

Methods: We conducted a multicenter biologic assignment trial comparing reduced-intensity HCT to hypomethylating therapy or best supportive care in subjects 50-75 years of age with intermediate-2 or high-risk de novo MDS. Read More

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2021 Jun;29(3):1002-1006

Department of Hematology, Afilliatied Hospital of Hebei Universtity, Baoding 071000, Hebei Province, China,E-mail:

Emerging data have demonstrated that bone marrow mesenchymal stem cells (MSCs) play important roles in the progression of myelodysplastic syndrome (MDS). Experiments in vitro have showed that MSCs derived from MDS patients (MDS-MSC) exhibit the biological characteristics of cell senescence. Although the underlying mechanisms that regulate cell senescence need to be further elucidated, existing researches indicate that the mechanisms of MDS-MSC senescence have significant heterogeneity. Read More

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2021 Jun;29(3):993-997

Department of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430020, Hubei Province, China,E-mail:

TIGIT is an inhibitory receptor containing T cell immunoglobulin and immune receptor protein tyrosine inhibitory motif domain. It shows high expression level on the surface of immune cells in tumor patients and plays an inhibitory role by binding to corresponding ligands, CD155 and CD112. Studying the mechanism of inhibitory effect of TIGIT and the way to block it shows a great significance in the immunotherapy of tumor. Read More

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2021 Jun;29(3):840-846

Department of Hematology, Nanfang Hospital, Southern Medical University, Guangzhou 510515, Guangdong Province, China,E-mail:

Objective: To investigate the clinical characteristics and prognosis of patients with medium and high risk myelodysplastic syndrome (MDS).

Methods: 97 MDS patients above the age of 60 treated in Nanfang Hospital, Southern Medical University from February 2011 to August 2020 were enrolled. The clinical characteristics and prognosis of the MDS patients with medium risk, high risk or very high risk based on IPSS-R category were retrospectively analyzed. Read More

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2021 Jun;29(3):832-839

Department of Hematology, Second Hospital of Shanxi Medical University, Taiyuan 030001, Shanxi Province, China,E-mail:

Objective: To investigate the quantitative expression of immunophenotype of CD34 myeloid precursor cells in myelodysplastic syndrome (MDS) patients and its correlation with clinical characteristics, and understand the effect of quantitative expression of CD7 and CD117 on the prognosis of low-risk MDS patients.

Methods: Multi-parameter flow cytometry (FCM) was used to detect the proportion and mean fluorescence intensity (MFI) of each antigen of bone marrow CD34 myeloid precursor cells in 79 MDS patients. The correlation between the expression level of each immune marker and clinical characteristics was compared. Read More

JBJS Case Connect 2021 06 8;11(2). Epub 2021 Jun 8.

Department of Orthopedic Surgery, University of Rochester School of Medicine, Rochester, NY.

Case: A 57-year-old woman with a history of COVID-19 pneumonia, myelodysplastic syndrome, type II diabetes mellitus, and nonalcoholic steatohepatitis underwent elective total hip arthroplasty 3 months after her COVID-19 infection had clinically resolved. Her postoperative course was complicated by COVID-19-negative pneumonia within 24 hours postoperatively requiring ICU admission.

Conclusion: Patients who have previously recovered from COVID-19 infection may have long-lasting cardiopulmonary effects that may be asymptomatic. Read More

J Physiol Pharmacol 2021 Feb 3;72(1). Epub 2021 Jun 3.

Preventive Research Institute, The President Stanislaw Wojciechowski State University of Applied Sciences in Kalisz, Kalisz, Poland.

Normal iron metabolism is an inherent feature of maintaining homeostasis. There is a wide range of iron disorders, which arise from iron deficiency or overload. In addition, disturbances in iron metabolism are observed in the course of numerous chronic diseases. Read More

Bioengineered 2021 Dec;12(1):2238-2252

Department of Hematology, Dongfang Hospital, Beijing University of Chinese Medicine, Beijing, China.

The study aims to explore potential mechanisms of YiSui NongJian formula (YSNJF) in treating myelodysplastic syndromes (MDS) by network pharmacology-based strategy. Active compounds and corresponding potential therapeutic targets of YSNJF were harvested by utilizing the database of TCMSP (Traditional Chinese Medicine Systems Pharmacology) and BATMAN-TCM (Bioinformatics Analysis Tool for Molecular mechanism of Traditional Chinese Medicine). MDS targets were adopted from GeneCard, KEGG (Kyoto Encyclopedia of Genes and Genomes), TTD (Therapeutic Target Database), DrugBank, and DisGeNet. Read More

Biomark Res 2021 Jun 5;9(1):43. Epub 2021 Jun 5.

The Affiliated Cancer Hospital of Zhengzhou University, Henan Cancer Hospital, 127 Dongming Road, Zhengzhou, 450008, China.

Immunomodulatory drugs (IMiDs) include thalidomide, lenalidomide, and pomalidomide, which have shown significant efficacy in the treatment of multiple myeloma (MM), myelodysplastic syndrome (MDS) with deletion of chromosome 5q (del(5q)) and other hematological malignancies. IMiDs hijack the CRL4 ubiquitin ligase to target cellular proteins for ubiquitination and degradation, which is responsible for their clinical activity in MM and MDS with del(5q). However, intrinsic and acquired resistance frequently limit the efficacy of IMiDs. Read More

Mol Cancer Res 2021 Jun 4. Epub 2021 Jun 4.

Internal Medicine I, Department of Medicine I, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg

The bone marrow microenvironment (BMME) is key player in regulation and maintenance of hematopoiesis. Oncogenic RAS mutations, causing constitutive activation of multiple tumor-promoting pathways, are frequently found in human cancer. So far in hematologic malignancies, RAS mutations have only been reported to occur in hematopoietic cells. Read More

Blood Rev 2021 May 14:100851. Epub 2021 May 14.

Sylvester Cancer Center, University of Miami Miller School of Medicine, Miami, FL, USA. Electronic address:

Using a range of health-related quality of life (HRQoL) instruments, most - but not all - studies of myelodysplastic syndromes (MDS) have reported that lower hemoglobin levels and red blood cell transfusion dependency are associated with worse HRQoL. In addition, some MDS treatments may significantly improve HRQoL, particularly among those patients who respond to therapy; however, the majority of these studies were underpowered for this secondary endpoint. Furthermore, decreased HRQoL has been associated with worse survival outcomes, and HRQoL scores can be used to refine classical prognostic systems. Read More

J Cardiovasc Imaging 2021 Apr 6. Epub 2021 Apr 6.

Cardiology Department, Hospital Universitario de Salamanca, Salamanca, Spain.

Background: Myocardial deformation with echocardiography allows early detection of systolic dysfunction and is related to myocardial iron overload (MIO) determined by T2* in hereditary anemias under transfusion support. Our aim was to analyze the diagnostic and prognostic usefulness of magnetic resonance feature tracking (MR-FT) myocardial strain in low-risk myelodysplastic syndromes (LR-MDS) patients.

Methods: Prospective study in transfusion-dependent LR-MDS patients and healthy controls who underwent a cardiac MR-FT. Read More

Acta Med Acad 2021 Apr;50(1):175-196

Hematology Clinic, Clinical Center of the University of Sarajevo, Sarajevo, Bosnia and Herzegovina.

Here we describe the major genetic and genomic aberrations found in myeloid malignancies and how those markers are used in patients' diagnosis, prognosis, and targeted treatment. In Bosnia and Herzegovina, cytogenetic and molecular diagnostics for myeloid malignancies have been established and continually improved since 2005. We report the current state of available diagnostic tools for myeloid malignancies in Bosnia and Herzegovina. Read More

Blood 2021 Jun 1. Epub 2021 Jun 1.

University of Rochester, Rochester, New York, United States.

The terminal maturation of human erythroblasts requires significant changes in gene expression in the context of dramatic nuclear condensation. Defects in this process are associated with inherited anemias and myelodysplastic syndromes. The progressively dense appearance of the condensing nucleus in maturing erythroblasts led to the assumption that heterochromatin accumulation underlies this process, but despite extensive study, the precise mechanisms underlying this essential biologic process remain elusive. Read More

J Rheumatol 2021 Jun 1. Epub 2021 Jun 1.

Vasculitis Clinic, Canadian Network for Research on Vasculitides, Department of Medicine, Hôpital du Sacré-Coeur de Montréal, University of Montreal; Division of Immunology and Allergy, Department of Medicine, Hôpital du Sacré-Coeur de Montréal, University of Montreal, Montreal, Quebec, Canada. The authors declare no conflicts of interest. Address correspondence to Dr. J.P. Makhzoum, Vasculitis Clinic, Division of Internal Medicine, Department of Medicine, Hôpital du Sacré-Coeur de Montréal, University of Montreal, 5400 Gouin O Blvd., Montreal, QC H4J 1C5, Canada. Email:

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome was recently discovered in 25 men with late-onset severe and refractory inflammatory syndromes and associated hematologic abnormalities. Various diseases have been described, such as relapsing polychondritis, myelodysplastic syndrome, polyarteritis nodosa, and giant cell arteritis. Read More

Clin Lymphoma Myeloma Leuk 2021 Apr 28. Epub 2021 Apr 28.

School of Medicine, Nankai University, Tianjin, China; Department of Hematology, Chinese PLA General Hospital, Beijing, China; Department of Hematology and Oncology, International Cancer Center, Shenzhen Key Laboratory of Precision Medicine for Hematological Malignancies, Shenzhen University General Hospital, Shenzhen University Clinical Medical Academy, Shenzhen University Health Science Center, Shenzhen, China. Electronic address:

Background: Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is the only curative therapy for advanced myelodysplastic syndrome (MDS). However, the value of pretransplant cytoreduction remains debatable.

Patients And Methods: We retrospectively compared the outcomes of upfront transplantation and pretransplant cytoreduction. Read More

Cancers (Basel) 2021 May 14;13(10). Epub 2021 May 14.

School of Allergy and Clinical Immunology, Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, Italy.

Benzene carcinogenic ability has been reported, and chronic exposure to benzene can be one of the risk elements for solid cancers and hematological neoplasms. Benzene is acknowledged as a myelotoxin, and it is able to augment the risk for the onset of acute myeloid leukemia, myelodysplastic syndromes, aplastic anemia, and lymphomas. Possible mechanisms of benzene initiation of hematological tumors have been identified, as a genotoxic effect, an action on oxidative stress and inflammation and the provocation of immunosuppression. Read More

Int J Mol Sci 2021 May 14;22(10). Epub 2021 May 14.

Department of Internal Medicine V, Medical University of Innsbruck, Anichstraße 35, 6020 Innsbruck, Austria.

Systemic iron overload is multifactorial in patients suffering from myelodysplastic syndrome (MDS). Disease-immanent ineffective erythropoiesis together with chronic red blood cell transfusion represent the main underlying reasons. However, like the genetic heterogeneity of MDS, iron homeostasis is also diverse in different MDS subtypes and can no longer be generalized. Read More

J Clin Med 2021 May 13;10(10). Epub 2021 May 13.

Hematology and Hemotherapy Department, Clínica Universidad de Navarra, 31008 Pamplona, Spain.

Myelodysplastic syndromes (MDS) are characterized by ineffective hematopoiesis, dysplasia and peripheral cytopenias. Nowadays, MDS therapy is selected based on risk. The goals of therapy are different in low-risk and high-risk patients. Read More