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Hematol Oncol 2020 Jul 7. Epub 2020 Jul 7.

Tel-Aviv University, Sackler School of Medicine, Tel Aviv, Israel.

We reviewed pre-diagnosis clinical data of 420 patients with pathologically confirmed myelodysplastic syndromes (MDS) presenting with anemia. In 232 patients with yearly pre-diagnosis blood counts (CBC) we also analyzed CBC kinetics in respects to a standardized timepoint in which all patients had similar levels of hemoglobin (Hgb). At the standardized timepoint (last documented 12 > Hgb≥11 g/dL), occurring months-years before diagnosis, median CBC values were Hgb 11. Read More

Int J Mol Sci 2020 Jun 30;21(13). Epub 2020 Jun 30.

Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata, P.le A. Stefani 1, 37126 Verona, Italy.

Inherited bone marrow failure syndromes (IBMFS) are a group of cancer-prone genetic diseases characterized by hypocellular bone marrow with impairment in one or more hematopoietic lineages. The pathogenesis of IBMFS involves mutations in several genes which encode for proteins involved in DNA repair, telomere biology and ribosome biogenesis. The classical IBMFS include Shwachman-Diamond syndrome (SDS), Diamond-Blackfan anemia (DBA), Fanconi anemia (FA), dyskeratosis congenita (DC), and severe congenital neutropenia (SCN). Read More

Medicine (Baltimore) 2020 Jul;99(27):e20904

Department of Hematology, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi.

Background: Our study aimed to analyze differential microRNA expression between myelodysplastic syndromes (MDS) and normal bone marrow, and to identify novel microRNAs relevant to MDS pathogenesis.

Methods: MiRNA microarray analysis was used to profile microRNA expression levels in MDS and normal bone marrow. Quantitative real-time polymerase chain reaction was employed to verify differentially expressed microRNAs. Read More

Exp Hematol 2020 Jul 3. Epub 2020 Jul 3.

Division of Molecular Medicine and Gene Therapy, Lund Stem Cell Center, Lund University, Sweden. Electronic address:

Erythropoiesis is intimately coupled to cell division, and deletion of the cell cycle regulator Retinoblastoma protein (pRb) causes anemia in mice. Erythroid-specific deletion of pRb has been shown to result in inefficient erythropoiesis due to de-regulated coordination of cell cycle exit and mitochondrial biogenesis. However, the pathophysiology remains to be fully described and further characterization of the link between cell cycle regulation and mitochondrial function is needed. Read More

Front Immunol 2020 17;11:1236. Epub 2020 Jun 17.

Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, United States.

Toll like receptors (TLRs) are a family of pattern recognition receptors that play a central role in the innate immune response. These receptors are expressed on a wide variety of immune and non-immune cells, and they help shape the immune response to infection and injury through the recognition of pathogen-associated molecular patterns (PAMPs) as well as endogenous damage-associated molecular patterns (DAMPs). Accumulating evidence suggests that, in addition to regulating mature effector immune cells, TLRs can influence the immune response from the level of the hematopoietic stem cell (HSC). Read More

Rinsho Ketsueki 2020 ;61(6):643-650

Department of Hematology-Oncology, Institute of Biomedical Research and Innovation, Foundation for Biomedical Research and Innovation at Kobe.

Splicing factor 3b subunit 1 (SF3B1) is the most commonly mutated RNA splicing factor identified in myelodysplastic syndrome (MDS), chronic lymphocytic leukemia, and uveal melanoma. The mechanisms by which SF3B1 mutations promote malignancy are poorly understood. Here, we integrated pan-cancer RNA sequencing to identify mutant SF3B1-dependent aberrant splicing events with a positive CRISPR screen to prioritize alterations that functionally promote oncogenesis. Read More

Anticancer Res 2020 Jul;40(7):3883-3888

IGF Oncology, LLC, Saint Paul, MN, U.S.A.

Background/aim: The insulin-like growth factor type 1 receptor (IGF-1R) is overexpressed in myelodysplastic syndrome (MDS) cells, and 765IGF-Methotrexate (IGF-MTX) is a conjugate of methotrexate and a variant of insulin-like growth factor-1 (IGF-1) designed to selectively target cancer cells through binding to IGF-1R. The aim of this study was to determine whether IGF-MTX would be effective to treat MDS.

Patients And Methods: In this phase I clinical trial, two patients with high grade MDS or oligoblastic acute myeloid leukemia (O-AML) that had failed standard therapy were treated with IGF-MTX. Read More

Mol Aspects Med 2020 Jul 1:100868. Epub 2020 Jul 1.

University of Leipzig Medical Center, Medical Department I - Hematology and Cell Therapy, Hemostaseology, Germany.

Systemic iron overload (SIO) is a common challenge in patients with hematological diseases and develops as a result of ineffective erythropoiesis, multiple red blood cell (RBC) transfusions and disease-specific therapies. Iron homeostasis is tightly regulated as there is no physiological pathway to excrete iron from the body. Excess iron is, therefore, stored in tissues like liver, heart and bone marrow and can lead to progressive organ damage. Read More

J Investig Med High Impact Case Rep 2020 Jan-Dec;8:2324709620938941

Hematology-Oncology Leukemia Program, Taussig Cancer Center, Cleveland Clinic, Cleveland, OH, USA.

Thrombocytopenia 2 (THC2) is an autosomal dominant disorder characterized by ankyrin repeat domain 26 mutation and moderate thrombocytopenia. THC2 exposes patients to a low risk of bleeding and an increased likelihood of myelodysplastic syndrome/acute myeloid leukemia. Germline evaluation for a genetic disorder should be considered when a patient presents with isolated thrombocytopenia and associated dysmegakaryopoiesis. Read More

BMC Nephrol 2020 Jul 2;21(1):251. Epub 2020 Jul 2.

Division of Nephrology, Department of Internal Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, 222 Banpo-daero, Seocho-gu, Seoul, 06591, South Korea.

Background: The occurrences of hyperuricemia and acute kidney injury after antithymocyte globulin treatment are unusual in kidney transplant recipients. Here, we report a unique case of acute kidney injury with extreme hyperuricemia after antithymocyte globulin treatment in a kidney transplant recipient with underlying aplastic anemia.

Case Presentation: A 40-year-old woman with aplastic anemia who received a kidney transplant 5 years 6 months before presented to our emergency department with complaints of oliguria, generalized edema, and general weakness 6 days after receiving antithymocyte globulin treatment for acute T-cell-mediated rejection. Read More

Clin Exp Med 2020 Jul 1. Epub 2020 Jul 1.

Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, China.

Hypomethylating agents (HMAs) are now a major treatment option for myelodysplastic syndrome (MDS) and related neoplasms, but 50% of patients still do not respond and realize poor outcomes. Mutational predictors of treatment efficacy attract continuous attention. Whether TP53 mutations can be used as predictors of HMA effectiveness has caused heated debate. Read More

Dermatol Online J 2020 Mar 15;26(3). Epub 2020 Mar 15.

Department of Dermatology, University of Pittsburgh Medical Center, Pittsburgh, PA.

We report a patient with Sweet syndrome involving the pulmonary system in the context of myelodysplastic syndrome. Although Sweet syndrome may involve a variety of organ systems, the pulmonary system is rarely affected and can result in poor clinical outcomes, including acute respiratory distress syndrome. Both cutaneous and pulmonary symptoms respond well to systemic corticosteroid therapy and early diagnosis and treatment can improve the prognosis. Read More

J Palliat Med 2020 Jun 29. Epub 2020 Jun 29.

Division of Hematology/Oncology, Brown University, Providence, Rhode Island, USA.

Patients with hematologic malignancies (HM) often receive aggressive care at the end of life (EOL). Early palliative care (PC) has been shown to improve EOL care outcomes, but its benefits are less established in HM than in solid tumors. We sought to describe the use of billed PC services among Medicare beneficiaries with HM. Read More

Bone Marrow Transplant 2020 Jun 30. Epub 2020 Jun 30.

Klinik für Innere Medizin II, Hämatologie und Internistische Onkologie, Universitätsklinikum Jena, Jena, Germany.

Myeloid sarcoma (MS) as a solid extra-medullary (EM) manifestation of acute myeloid leukemia (AML), myeloproliferative or myelodysplastic syndromes is a rare presentation of relapse after allogeneic hematopoietic stem cell transplantation (HSCT). The databases of the Departments of Hematology and Oncology of the University Hospitals of Jena and Rostock were screened for patients aged 18 years or older for onset of MS after HSCT for myeloid malignancies between 2002 and 2019. Nineteen patients with MS were identified, the majority of whom had received reduced-intensity conditioning (RIC). Read More

Cells 2020 Jun 26;9(6). Epub 2020 Jun 26.

Department of Medicine I, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.

Myeloproliferative diseases, including myeloproliferative neoplasms (MPN) and myelodysplastic syndromes (MDS), are driven by genetic abnormalities and increased inflammatory signaling and are at high risk to transform into acute myeloid leukemia (AML). Myeloid-derived suppressor cells were reported to enhance leukemia immune escape by suppressing an effective anti-tumor immune response. MPNs are a potentially immunogenic disease as shown by their response to interferon-α treatment and allogeneic hematopoietic stem-cell transplantation (allo-HSCT). Read More

CPT Pharmacometrics Syst Pharmacol 2020 Jun 30. Epub 2020 Jun 30.

Bristol Myers Squibb, Princeton, New Jersey, USA.

Luspatercept is a recombinant fusion protein that enhances late-stage erythroid maturation. This report describes the population pharmacokinetics and exposure-response relationship of luspatercept in 260 patients with anemia due to myelodysplastic syndromes. Luspatercept displayed linear and time-invariant pharmacokinetics over a dose range of 0. Read More

Int J Radiat Biol 2020 Jun 30:1-64. Epub 2020 Jun 30.

Risk Assessment Corporation, Neeses, South Carolina, USA.

: Approximately 235,000 military personnel participated at one of 230 U.S. atmospheric nuclear weapons tests from 1945 through 1962. Read More

Leukemia 2020 Jun 29. Epub 2020 Jun 29.

Clinical Hematology Department, Hospital Universitari I Politècnic la Fe, Valencia, Spain.

In the current World Health Organization (WHO)-classification, therapy-related myelodysplastic syndromes (t-MDS) are categorized together with therapy-related acute myeloid leukemia (AML) and t-myelodysplastic/myeloproliferative neoplasms into one subgroup independent of morphologic or prognostic features. Analyzing data of 2087 t-MDS patients from different international MDS groups to evaluate classification and prognostication tools we found that applying the WHO classification for p-MDS successfully predicts time to transformation and survival (both p < 0.001). Read More

Transfus Apher Sci 2020 Jun 10:102845. Epub 2020 Jun 10.

Division of Haematology, Department of Internal Medicine, Haseki Training and Research Hospital, University of Health Sciences, Istanbul, Turkey. Electronic address:

Purpose: Early comorbidity detection has been reported to be associated with treatment-related outcomes in several diseases. Two main goals of the present study were to investigate both the impact of comorbidities and transfusion frequencies on the survival and quality of life of patients with myelodysplastic syndromes (MDS).

Methods: One hundred and four MDS patients with a median International Prognostic Scoring System (IPSS) score of 0. Read More

Leuk Res 2020 Jun 18;95:106402. Epub 2020 Jun 18.

Beth Israel Deaconess Medical Center, Boston, United States.

Introduction: Chromosome 17 abnormalities, especially disorders of the 17p region and including TP53 gene mutations, result in very low rates of cure for patients with acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS) treated with conventional chemotherapy or allogeneic hematopoietic cell transplant (allo-HCT). Our retrospective study analyzed outcomes in patients with chromosome 17 (ch17) abnormalities who received conventional chemotherapy followed by allo-HCT versus those who did not receive a transplant. We analyzed whether poor outcomes extend to patients with all types of ch17 abnormalities and the impact of concomitant TP53 gene mutations assessed by next-generation sequencing (NGS) on prognosis. Read More

Hematol Oncol 2020 Jun 26. Epub 2020 Jun 26.

Hematology, Departement of Translational and Precision Medicine, "Sapienza", University of Rome.

The anticoagulant treatment for patients with hematologic malignancies is low molecular weight heparin (LMWH), considered the safest in this particular patients setting. Although direct oral anticoagulants (DOACs) have proven their efficacy and safety in patients with cancer, their use can be challenging in patients with hematologic malignancies due to the peculiarity of these neoplasms: high thrombotic risk, possible onset of thrombocytopenia and concomitant anticancer therapies. The aim of our study was to evaluate the efficacy and safety of DOACs for venous thromboembolism or atrial fibrillation in patients with hematologic malignancies and plasmatic DOACs level during anticancer therapy and at time of bleeding or thrombotic complications. Read More

Br J Haematol 2020 Jun 25. Epub 2020 Jun 25.

Division of Hematology, Department of Medicine, London Health Sciences Centre, London, Ontario, Canada.

Next-generation sequencing (NGS) increasingly influences diagnosis, prognosis and management of myelodysplastic syndrome (MDS). In addition to marrow morphology and flow cytometry, our institution performs cytogenetics (CG) and NGS-based testing routinely in patients with suspected MDS. We evaluated the relative value of NGS in the assessment of patients with suspected MDS. Read More

Int J Hematol 2020 Jun 25. Epub 2020 Jun 25.

Data Center and Health Outcomes Research Unit, Italian Group for Adult Haematologic Diseases (GIMEMA), Rome, Italy.

We examined the association between serum ferritin (SF) levels and patient-reported functional aspects and symptoms, as measured by the EORTC QLQ-C30, in newly diagnosed patients with myelodysplastic syndromes (MDS). Analysis was conducted on 497 MDS patients who were classified in two groups based on the SF value of 1000 ng/mL. Clinically relevant differences of patient-reported functional and symptom scales were evaluated and classified as small, medium and large, based on established thresholds. Read More

Oncol Rep 2020 Jun 19. Epub 2020 Jun 19.

Department of Hematology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, P.R. China.

Type 1 insulin‑like growth factor receptor (IGF‑IR) signaling is considered to serve a key role in the development of cancer. However, the effects of IGF‑IR on the malignant characteristics of myelodysplastic syndrome (MDS) clonal cells remains to be determined. In the present study it was demonstrated that knockdown of IGF‑IR reduced the proliferation and increased the apoptosis of MDS/leukemia cells. Read More

Front Immunol 2020 4;11:1006. Epub 2020 Jun 4.

UO Ematologia, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Autoimmune hemolytic anemia (AIHA) is characterized by immune mediated erythrocytes destruction by autoantibodies with or without complement activation. Additional pathologic mechanisms include cellular cytotoxicity, cytokline dysregulation, and inadequate bone marrow compensation with fibrosis/dyserythropoiesis. The latter resembles that of bone marrow failures, namely aplastic anemia and myelodysplastic syndromes. Read More

Ann Clin Lab Sci 2020 May;50(3):401-403

Institute of Hematology, the Second Hospital of Shanxi Medical University, China

Chromosomal aberrations play an important role in the incidence of myelodysplastic syndromes (MDS) and development to acute myeloid leukemia (AML). We report a case of a 62-year-old male patient diagnosed with MDS with excess blasts. The karyotype was 45, XY,+1,+1,-7,-10,-22,t(1;14) (q21;q32),t(1;17)(q21;p13),t(1;19)(q21;p13). Read More

Ann Clin Lab Sci 2020 May;50(3):327-332

Department of Pathology and Laboratory Medicine, The University of Kansas, Kansas City, KS, USA

Objective: To determine if the immunophenotype of monocytes and granulocytes could help differentiate between reactive conditions and myeloid neoplasms.

Materials: We analyzed 94 patients including acute myeloid leukemia (n=53), myelodysplastic syndrome (n=19), chronic myelomonocytic leukemia (n=13), and chronic myelogenous leukemia (n=9). Twenty-five cases of reactive condition were included as controls. Read More

Leuk Lymphoma 2020 Jun 24:1-13. Epub 2020 Jun 24.

Department of Oncology, Albert Einstein College of Medicine - Montefiore Medical Center, Bronx, NY, USA.

Thrombocytopenia remains a challenge in myeloid malignancies, needing safer and more effective therapies. JNJ-26366821, a pegylated synthetic peptide thrombopoietin (TPO) mimetic not homologous to endogenous TPO, has an in-vitro EC50 of 0.2 ng/mL for the TPO receptor and dose dependently elevates platelets in volunteers. Read More

Cureus 2020 Jun 19;12(6):e8698. Epub 2020 Jun 19.

Oncology, Valleywise Health System, Phoenix, USA.

Leukemia cutis (LC) is a rare presentation of leukemia. It is characterized by the infiltration of leukemic cells into the different layers of the skin causing varying skin manifestations. It can occur before the hematological presentation of leukemia or during the disease course and carries a poor prognosis. Read More

Zhonghua Yi Xue Za Zhi 2020 Jun;100(24):1886-1889

Hematology Department, Tianjin Medical University General Hospital, Tianjin 300052, China.

To investigate the expression of Lymphocyte activation gene 3 (LAG3) in myelodysplastic syndromes (MDS) patients. A total of 16 MDS patients newly diagnosed in Hematology Department of Tianjin Medical University were enrolled from January to November 2019. The healthy control (HC) group includes 16 cases of healthy adults. Read More

Blood 2020 Jun 23. Epub 2020 Jun 23.

National University of Singapore, Singapore, Singapore.

RUNX1 is among the most frequently mutated genes in human leukemia, and the loss or dominant-negative suppression of RUNX1 function is found in myelodysplastic syndrome and acute myeloid leukemia (AML). However, how post-translational modifications (PTMs) of RUNX1 affect its in vivo function and whether PTM dysregulation of RUNX1 can cause leukemia are largely unknown. We performed targeted deep sequencing on a family with 3 occurrences of AML and identified a novel RUNX1 mutation R237K. Read More

Int J Hematol 2020 Jun 22. Epub 2020 Jun 22.

Department of Transfusion Medicine and Cell Therapy, Kyoto University Hospital, 54 Kawaharacho, Shogoin, Sakyo-ku, Kyoto, 606-8507, Japan.

Vitamin K2 in the form of menatetrenone has clinical benefits for osteoporosis and cytopenia. Given the dominant role of mesenchymal-osteolineage cells in the regulation of hematopoiesis, we investigated whether menatetrenone alters the hematopoiesis-supportive capability of human bone marrow mesenchymal stromal/stem cells (BM-MSCs). Menatetrenone up-regulated fibronectin protein expression in BM-MSCs without affecting their proliferation and differentiation capabilities. Read More

Pathology 2020 Jun 19. Epub 2020 Jun 19.

Department of Hematology, Zhongnan Hospital of Wuhan University, Wuhan, China. Electronic address:

Myelodysplastic syndromes (MDS) are characterised by impaired haematopoiesis and a high risk of leukaemic transformation. A decrease in RPS14 expression in non-5q MDS patients was confirmed by immunohistochemical analyses of MDS bone marrow biopsies. To determine the cause of RPS14 reduction in non-5q MDS, we analysed the 3'-UTR of RPS14 and demonstrated that miR-223 binds to the 3'-UTR of RPS14 by bioinformatics-based approach combined with the luciferase reporter assay. Read More

Leuk Res 2020 Jun 11;95:106404. Epub 2020 Jun 11.

Division of Hematology, Oncology and Transplantation, Department of Medicine, University of Minnesota, Minneapolis, MN, United States; Masonic Cancer Center, University of Minnesota, Minneapolis, MN, United States. Electronic address:

Blood Adv 2020 Jun;4(12):2768-2778

Division of Hematology, Department of Medicine, Stanford University Medical Center, Stanford, CA; and.

Precision medicine approaches such as ex vivo drug sensitivity screening (DSS) are appealing to inform rational drug selection in myelodysplastic syndromes (MDSs) and acute myeloid leukemia, given their marked biologic heterogeneity. We evaluated a novel, fully automated ex vivo DSS platform that uses high-throughput flow cytometry in 54 patients with newly diagnosed or treatment-refractory myeloid neoplasms to evaluate sensitivity (blast cytotoxicity and differentiation) to 74 US Food and Drug Administration-approved or investigational drugs and 36 drug combinations. After piloting the platform in 33 patients, we conducted a prospective feasibility study enrolling 21 patients refractory to hypomethylating agents (HMAs) to determine whether this assay could be performed within a clinically actionable time frame and could accurately predict clinical responses in vivo. Read More

Leukemia 2020 Jun 21. Epub 2020 Jun 21.

Formerly Department of Malignant Hematology, H. Lee Moffitt Cancer center, Tampa, FL, USA.

Ann Hematol 2020 Jun 20. Epub 2020 Jun 20.

Department of Hematology, CHU Hôtel Dieu, Place A. Ricordeau, 44093, Nantes Cedex, France.

Allogeneic stem cell transplantation (allo-SCT) represents the most beneficial treatment for patients with active relapsed/refractory (R/R) hematologic malignancies. Recently, sequential regimens combining debulking chemotherapy followed by reduced-intensity conditioning (RIC) have shown encouraging results for these patients. In this retrospective study, we report the extended results of a sequential regimen of clofarabine, cytosine arabinoside, and RIC in 131 adults with active R/R myeloid disease at transplant. Read More

Environ Res 2020 May 20;188:109681. Epub 2020 May 20.

Université Côte d'Azur, Public Health Department, Centre Hospitalier Universitaire de Nice, France.

Introduction: Few studies on cancer incidence have been conducted since the adoption of the EU 2000/76/EC waste incineration directive which aimed to limit dioxin emission levels to less than 0.1 ng TEQ/m before December 31, 2005.

Objective: To measure cancer incidence among the population exposed to atmospheric emissions from the waste incineration plant near the town of Nice (South-Eastern France), compared to the unexposed population of the Alpes-Maritimes department (A-M). Read More

Biol Blood Marrow Transplant 2020 Jun 16. Epub 2020 Jun 16.

Department of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Republic of Korea; Biomedical Research Institute, Seoul National University College of Medicine, Seoul, Republic of Korea.

The integration of antithymocyte globulin (ATG) has significantly reduced the incidence of graft-versus-host disease (GVHD) and is actively being used in allogeneic hematopoietic stem cell transplantation (allo-HSCT). The ATG dosage is determined by the recipient's body weight, but some insist that this approach does not reflect the actual target of ATG. In this respect, weight-based dosing may lead to ATG overdose, particularly in recipients with a relatively low absolute lymphocyte count (ALC). Read More

Transfus Clin Biol 2020 Jun 16. Epub 2020 Jun 16.

Unité d'hémovigilance, centre hospitalier de la Côte Basque, Bayonne, France.

We retrospectively assessed the characteristics of 165 MDS patients from our institution having received at least 20 RBC units. In the vast majority of them various comorbidities (range: 1-6 per patient) were registered including mainly cardiovascular disorders. Serum ferritin was over 1000μg/L in about half of tested individuals. Read More

Bull Cancer 2020 Jun 16. Epub 2020 Jun 16.

Hôpital Huriez, CHRU de Lille, maladie du sang, 3, rue Michel-Polonowsky, 59000 Lille, France.

Microtransplantation (MT) is based on injection of HLA-mismatched G-CSF mobilized hematopoietic stem cells, in combination with chemotherapy but without use of conditioning regimen nor immunosuppressive drugs. As a result, a transient microchimerism is induced without engraftment. Its efficacy relies both on host immune system stimulation (recipient versus tumor) and on a graft versus tumor effect. Read More

Clin J Gastroenterol 2020 Jun 15. Epub 2020 Jun 15.

Division of Gastroenterology, Faculty of Medicine, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki, 305-8575, Japan.

A 69-year-old woman who had a history of chronic hepatitis C, autoimmune hemolytic anemia and myelodysplastic syndrome was treated with sorafenib at a daily dose of 400 mg for HCC with multiple lung metastases. Nonetheless, elevated serum tumor markers further increased (alpha fetoprotein from 121,100 to 348,660 ng/ml and protein induced by vitamin K absence/antagonist-II from 3435 to 29,357 mAU/ml), and lung metastatic lesions on chest X-ray showed no improvement after 2 months of sorafenib treatment. Sorafenib was discontinued because of adverse events with diarrhea, fatigue, and severe anemia due to bleeding from stomach telangiectasia. Read More

Ann Hematol 2020 Jun 16. Epub 2020 Jun 16.

Service and Central Laboratory of Hematology, Department of Oncology and Department of Laboratory Medicine and Pathology, Lausanne University Hospital (CHUV), Rue du Bugnon 46, Lausanne, CH-1011, Switzerland.

Myelodysplastic syndromes (MDS) are a heterogeneous group of diseases, with a variable probability of transformation into acute leukemia, which is, in the vast majority of cases, of myeloid lineage. Nevertheless, rare cases of acute lymphoblastic leukemia in patients with previously diagnosed MDS have been reported. We describe a series of 3 cases of MDS/CMML marked with evolution to acute lymphoblastic leukemia (ALL) and provide a comprehensive review of the 49 cases documented in the literature so far. Read More

Leukemia 2020 Jun 18. Epub 2020 Jun 18.

Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

Deficiency of the transcription factor GATA2 is a highly penetrant genetic disorder predisposing to myelodysplastic syndromes (MDS) and immunodeficiency. It has been recognized as the most common cause underlying primary MDS in children. Triggered by the discovery of a recurrent synonymous GATA2 variant, we systematically investigated 911 patients with phenotype of pediatric MDS or cellular deficiencies for the presence of synonymous alterations in GATA2. Read More

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2020 Jun;28(3):1059-1063

Department of Hematology, Xiyuan Hospital, China Academy of Traditional Chinese Medical Sciences, Beijing 100091, China,E-mail:

Abstract　　Single cell sequencing technology is different from traditional sequencing method, which is based on population cell average level. It has been widely used in many fields and made great progress in the application of malignant hematological diseases. In this review, the principle, methodology and application of single cell sequencing technology in malignant hematological diseases are summarized briefly, including the study of the pathogenesis in myelodysplastic syndrome, the mechanism of transformation into leukemia, accurate diagnosis and classification, differential diagnosis, evaluation of targeted drug therapeutic efficacy and exploration of biomarkers; specific diagnostic indicators for myeloproliferative diseases, progression of disease monitoring and epidemiological studies; moreover, the pathogenesis and drug resistance of acute myeloid leukemia (AML), which can provide reference for the diagnosis and research of malignant hematological diseases. Read More

Open Forum Infect Dis 2020 Jun 23;7(6):ofaa180. Epub 2020 May 23.

Department of Biomedical Informatics, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.

In this work, we report 2 cases of vancomycin-resistant bacteremia with development of daptomycin resistance in 2 patients with acute myeloid leukemia and myelodysplastic syndrome. Mutations related to daptomycin-nonsusceptible phenotype in genes were found in all strains of the study, including those with a minimum inhibitory concentration <1 µg/mL collected before daptomycin therapy. Epidemiological investigation using core genome single nucleotide polymorphism and core genome multilocus sequence typing revealed clonality of all the isolates. Read More

Exp Hematol 2020 Jun 13. Epub 2020 Jun 13.

Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY; Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY; Black Family Stem Cell Institute, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY. Electronic address:

Recurrent chromosomal deletions spanning several megabases are often found in hematological malignancies. The ability to engineer deletions in model systems to functionally study their effects on the phenotype would enable, first, determination of whether a given deletion is pathogenic or neutral and, second, identification of the critical genes. Incomplete synteny makes modeling of deletions of megabase scale challenging or impossible in the mouse or other model organisms. Read More

Leuk Lymphoma 2020 Jun 16:1-8. Epub 2020 Jun 16.

Department of Medicine, Division of Hematology, Cancer Institute, Stanford University, Stanford, CA, USA.

Treatment with hypomethylating agents (HMAs) azacitidine or decitabine is the current standard of care for high risk myelodysplastic syndromes (MDSs) but is associated with low rates of response. The limited number of treatment options for patients with high risk MDS highlights a need for new therapeutic options. Venetoclax is an inhibitor of the BCL-2 protein which, when combined with an HMA, has shown high response rates in unfit and previously untreated acute myeloid leukemia. Read More

Cytometry B Clin Cytom 2020 Jun 16. Epub 2020 Jun 16.

Department of Clinical Genetics and Pathology, Skåne University Hospital, Lund, Sweden.

Background: Accumulating data support the role of flow cytometry (FCM) in diagnostic work-up of myelodysplastic syndromes (MDS). Changes in erythropoiesis are less documented than in granulopoiesis. However, most studies were performed on bone marrow samples (BMSs) after red blood cell lysis. Read More

Nat Commun 2020 Jun 15;11(1):3021. Epub 2020 Jun 15.

Cancer Program, QIMR Berghofer Medical Research Institute, Brisbane, Australia.

The caudal-related homeobox transcription factor CDX2 is expressed in leukemic cells but not during normal blood formation. Retroviral overexpression of Cdx2 induces AML in mice, however the developmental stage at which CDX2 exerts its effect is unknown. We developed a conditionally inducible Cdx2 mouse model to determine the effects of in vivo, inducible Cdx2 expression in hematopoietic stem and progenitor cells (HSPCs). Read More