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Br J Haematol 2022 02 3;196(4):1031-1039. Epub 2021 Nov 3.

Department of Paediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.

In 2008, the World Health Organization proposed a new entity of childhood myelodysplastic syndrome (MDS), which was referred to as refractory cytopenia of childhood (RCC). However, whether this morphological classification reflects clinical outcomes remains unclear. We performed a prospective evaluation of bone marrow morphology in 252 children with acquired bone marrow failure between 2009 and 2013. Read More

Hematol Oncol Stem Cell Ther 2020 Nov 18. Epub 2020 Nov 18.

Pediatric Hematology/Oncology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. Electronic address:

Background/objective: Myelodysplastic syndrome (MDS) is a clonal disorder of hematopoietic stem cells, characterized by ineffective hematopoiesis, peripheral cytopenias along with hypercellularity of the bone marrow, and marked dysplastic features. Establishing MDS diagnosis is difficult due to nonspecific clinical presentation and imprecise morphological criteria. In anticipation to improve the diagnostic approach in this field, we aimed to characterize the clinical and morphological features of patients presented with cytopenias with a special focus on MDS. Read More

Int J Hematol 2020 Nov 9;112(5):728-733. Epub 2020 Jun 9.

Department of Pediatrics, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu, 501-1194, Japan.

Few hematological complications have previously been reported in association with Cri du Chat syndrome (CdCS). A case of myelodysplastic syndromes (MDS) in a pediatric patient with CdCS is herein presented. A 17-year-old female with CdCS caused by ring chromosome 5 was admitted to the hospital for investigation of a 1-month history of anemia. Read More

Hematol Oncol Stem Cell Ther 2020 Dec 18;13(4):214-219. Epub 2020 Mar 18.

Hematology, Oncology and Stem Cell Transplantation Research Center, Tehran University of Medical Sciences, Tehran, Iran.

Objectives/background: Myelodysplastic syndromes (MDSs) are a heterogeneous disease in terms of clinical course and response to therapy. Epigenetic changes are the primary mechanism of MDS pathogenesis. FOXO3 and CHEK2 genes play significant roles in normal cellular mechanisms and are also known as tumor suppressor genes. Read More

Clin Lymphoma Myeloma Leuk 2020 05 16;20(5):329-339.e3. Epub 2020 Jan 16.

Department of Hematology, Zhongnan Hospital of Wuhan University, Wuhan, China.

Background: Integrating the proportion of ring sideroblasts and SF3B1 mutation status is required for diagnosis of sideroblastic subgroups in myelodysplastic syndrome (MDS) as proposed by the World Health Organization 2016 classification. However, the clinical implications of SF3B1 mutation and ring sideroblasts in MDS-refractory cytopenia with multilineage dysplasia (MDS-RCMD) remain unclear.

Patients And Methods: Clinical and laboratory features in 238 MDS-RCMD patients were retrospectively analyzed, and the prognostic significance of SF3B1 mutation and ring sideroblasts on overall survival and leukemia-free survival in total MDS-RCMD patients and different subgroups stratified by the percentage of ring sideroblasts or SF3B1 mutation status were evaluated. Read More

Blood 2020 04;135(14):1101-1110

Service de Dermatologie, Poissy-Saint Germain Hospital, Saint-Germain-en-Laye, France.

Scleromyxedema is a rare skin and systemic mucinosis that is usually associated with monoclonal gammopathy (MG). In this French multicenter retrospective study of 33 patients, we investigated the clinical and therapeutic features of MG-associated scleromyxedema. Skin molecular signatures were analyzed using a transcriptomic approach. Read More

Rinsho Ketsueki 2019 ;60(10):1436-1442

Department of Hematology, Nagano Red Cross Hospital.

A 12-year-old boy was diagnosed with aplastic anemia. He was followed as an outpatient without medication, and his cytopenia improved after several years. When he was 26 years old, an annual medical checkup revealed leukocytopenia, and at the age of 31 years, he was diagnosed with myelodysplastic syndrome (MDS), refractory cytopenia with multilineage dysplasia. Read More

J Cancer 2019 30;10(5):1325-1332. Epub 2019 Jan 30.

Clinical Medical College, Yangzhou University, Yangzhou 225001, China.

Several prognostic scoring systems have been developed to assess prognosis in myelodysplastic syndrome (MDS). However, currently there are no systems that list gender as a prognostic factor. We queried a National Cancer Institute database to investigate the prognostic influence of gender on the survival of patients with MDS. Read More

Oncol Lett 2018 Dec 26;16(6):7287-7294. Epub 2018 Sep 26.

Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Suzhou, Jiangsu 215006, P.R. China.

Previous studies on the pathogenesis of myelodysplastic syndrome (MDS) have identified multiple associated gene mutations, including mutations of tetmethylcytosinedioxygenase 2, isocitrate dehydrogenase [NADP(+)] 1 cytosolic, isocitrate dehydrogenase [NADP(+)] 2 mitochondrial and additional sex combs like 1 transcriptional regulator, all of which may be considered epigenetic regulators. Furthermore, mutations of RAS type GTPase family genes have been identified in 10-15% patients with MDS. The authors' previous study on the gene expression profile of cluster of differentiation 34 cells using microarray analysis identified elevated expression of RAP1GTPase activating protein 1 (Rap1GAP) in patients with MDS compared with that in non-malignant blood diseases (NM) control group. Read More

Semin Hematol 2018 10 28;55(4):242-247. Epub 2018 May 28.

Department of Haematology and Central Haematology Laboratory, Inselspital, Bern University Hospital, University of Bern, Switzerland; Department for BioMedical Research, Inselspital, Bern University Hospital, University of Bern, Switzerland. Electronic address:

Myelodysplastic syndromes (MDS) and associated diseases, like chronic myelomonocytic leukemias (CMML), are heterogeneous, clonal disorders affecting the hematopoietic stem cells. They are characterized by dysplasia and a propensity to evolve toward acute myeloid leukemia. Systemic inflammatory and autoimmune manifestations (SIAMs) occur with a prevalence of 10% to 20% in myeloid malignancies, but the underlying pathogenetic mechanisms remain obscure. Read More

Haematologica 2019 03 4;104(3):497-504. Epub 2018 Oct 4.

Department of Hematology, CHU Grenoble-Alpes, Grenoble.

Erythropoiesis-stimulating agents are generally the first line of treatment of anemia in patients with lower-risk myelodysplastic syndrome. We prospectively investigated the predictive value of somatic mutations, and biomarkers of ineffective erythropoiesis including the flow cytometry RED score, serum growth-differentiation factor-15, and hepcidin levels. Inclusion criteria were no prior treatment with erythropoiesis-stimulating agents, low- or intermediate-1-risk myelodysplastic syndrome according to the International Prognostic Scoring System, and a hemoglobin level <10 g/dL. Read More

Histopathology 2019 Jan 29;74(2):239-247. Epub 2018 Oct 29.

Department of Pathology, Japanese Red Cross Nagoya First Hospital, Nagoya, Japan.

Aims: Refractory cytopenia of childhood (RCC) is subdivided into myelodysplastic syndrome with multilineage dysplasia (MDS-MLD) and RCC without (w/o) multilineage dysplasia (RCC without MLD). Although RCC is a histomorphological distinct entity, the bone marrow (BM) histology of RCC is not yet characterised in relation to multilineage dysplasia. We investigated the BM histological features of RCC to clarify the characteristics of BM histology of MDS-MLD in childhood compared to RCC without MLD. Read More

Medicine (Baltimore) 2018 Jul;97(30):e11535

Cancer Center, the First Hospital of Jilin Unversity, Jilin Department of Hematology, Yantai Affiliated Hospital of Binzhou Medical University, Yantai Research Center ,the Second Hospital of Jilin UniversityJilin Cardiovascular Surgery Department, the First Hospital of Jilin Unversity, Jilin, People's Republic of China.

Rationale: Myelodysplastic syndrome (MDS) is a heterogeneous malignant hematologic disease with median overall survival ranging from six months to more than ten years. Solid tumor rarely occurs in combination with MDS and the underlying pathogenesis and prognostic significance still remain controversial.

Patient Concerns: Here we report a relative low risk myelodysplastic syndrome-refractory cytopenia with multilineage dysplasia (MDS-RCMD) patient, with a rare t(1; 19)chromosome translocation. Read More

Rinsho Ketsueki 2018;59(6):675-681

Department of Hematology, Nagano Red Cross Hospital.

An 81-year-old woman presented to our hospital with anemia. Complete blood counts revealed macrocytic anemia; however, serum vitamin B12 and folate levels were normal. Bone marrow aspiration revealed multilineage dysplasia, and the patient was initially diagnosed with refractory cytopenia and multilineage dysplasia subtype of myelodysplastic syndrome. Read More

Rinsho Ketsueki 2018;59(3):315-322

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

An 18-year-old man was diagnosed with Epstein-Barr virus (EBV) -associated hemophagocytic syndrome (HPS) and treated with prednisolone (PSL) at a previous hospital. During PSL tapering, the HPS symptoms reappeared, and the patient was referred to our hospital. Increased PSL improved the symptoms, but the EBV infection remained unresolved. Read More

Chin J Integr Med 2019 May 2;25(5):354-359. Epub 2018 Mar 2.

National Hematological Medical Center of Traditional Chinese Medicine, Department of Hematology, Xiyuan Hospital, China Academy of Chinese Medical Sciences, Beijing, 100091, China.

Objective: To explore the effect of Qinghuang Powder (QHP,()combined with Bupi Yishen Decoction (BPYS, ) on myelodysplastic syndromes (MDS) patients with refractory cytopenia with multilineage dysplasia (RCMD) and determine the change of DNA methylation in MDS-RCMD patients after the treatment of Chinese medicine formula.

Methods: All 308 MDS-RCMD patients were treated with QHP combined with BPYS for 2 months at least, absolute neutrophil count (ANC), hemoglobin (Hb), platelets (PLT), primitive bone marrow cells and chromosome karyotype were chosen as the main evaluation indexes to analyze the treatment effect according to criteria from the MDS International Working Group. Then 43 bone marrow samples from 15 MDS-RCMD patients and 28 healthy donors were obtained for the examination of DNA methylation. Read More

Rinsho Ketsueki 2018;59(1):80-83

Department of Hematology, University of Tsukuba Hospital.

Recent progress in sequencing studies has suggested that somatic mutations can be used in clinical sequencing for predicting prognosis and selecting treatment options in myelodysplastic syndrome (MDS). A 48-year-old man was diagnosed with refractory cytopenia with multilineage dysplasia that is classified as a subtype of high-risk MDS based on both revised International Prognostic Scoring System and refined WHO classification based Prognostic Scoring System. He received a bone marrow transplant from an HLA-matched sibling donor at X＋87 months because of disease progression. Read More

Blood Cells Mol Dis 2017 07 9;66:37-46. Epub 2017 Aug 9.

Centre for Stem Cell Research, A Unit of inStem Bengaluru, Christian Medical College Campus, Bagayam, Vellore, Tamil Nadu, India; Department of Hematology, Christian Medical College, Vellore, Tamil Nadu, India. Electronic address:

Myelodysplastic syndromes (MDS) are a group of clonal hematopoietic disorders related to hematopoietic stem and progenitor cell dysfunction. Several studies have shown the role of the bone marrow microenvironment in regulating hematopoietic stem, and progenitor function and their individual abnormalities have been associated with disease pathogenesis. In this study, we simultaneously evaluated hematopoietic stem cells (HSC), hematopoietic stem progenitor cells (HSPCs) and different stromal elements in a cohort of patients with MDS-refractory cytopenia with multilineage dysplasia (RCMD). Read More

Autoimmun Rev 2017 Sep 10;16(9):903-910. Epub 2017 Jul 10.

Service de Médecine Interne, Hôpital Saint Antoine, APHP, Université Paris 6, 75012 Paris, France; Service de médecine interne, CHU Bretagnes Atlantique, Vannes, France.

Background: Systemic inflammatory and autoimmune diseases (SIADs) associated with myelodysplastic syndromes are often difficult to treat. Corticosteroids are efficient but only usually at high doses. The use of biologics needs to be specified. Read More

Clin Lymphoma Myeloma Leuk 2017 11 16;17(11):753-758. Epub 2017 Jun 16.

Department of Malignant Hematology, Moffitt Cancer Center, Tampa, FL.

Background: Next-generation sequencing has identified somatic mutations that are prognostic of cancer.

Patients And Methods: We evaluated the incidence and prognostic significance of somatic mutations in 89 myelodysplastic syndrome (MDS) patients who received an allogeneic hematopoietic cell transplantation. Next-generation sequencing was performed on paraffin embedded bone marrow, which was obtained at a median of 31 days before initiating the preparative regimen. Read More

Rinsho Ketsueki 2017 ;58(6):661-668

Department of Pathology, Japanese Red Cross Nagoya First Hospital.

Refractory cytopenia of childhood (RCC) was proposed as a provisional entity in the 2008 WHO classification of myelodysplastic syndromes (MDS). It is defined as a childhood MDS featuring persistent cytopenia without increase blasts in bone marrow (BM) or peripheral blood (PB). Because the majority of RCC cases feature hypocellularity and pancytopenia, it is quite challenging to differentiate RCC from acquired aplastic anemia (AA) and many kinds of inherited bone marrow failure syndromes (IBMFS). Read More

Mol Clin Oncol 2017 Jun 21;6(6):876-880. Epub 2017 Apr 21.

Azienda Ospedaliera Città della Salute e della Scienza, Anatomia e Istologia Patologica 1U, I-10126 Turin, Italy.

Tumor protein 53 mutations adversely affect the prognosis of myelodysplastic syndromes (MDS); however, few studies have reported on the prognostic significance of the expression of p53 protein in MDS. The current study investigated p53 immunoreactivity (p53-IR) in bone marrow biopsies (BMBs) obtained at diagnosis from 18 patients (6 females and 12 males; mean age, 50.5 years) with MDS that underwent bone marrow transplantation (BMT) to determine the associations between clinical and histopathological data and outcome. Read More

J Clin Pathol 2017 Nov 29;70(11):970-980. Epub 2017 May 29.

Cancer Cytogenomic Laboratory, Center for Research and Drug Development (NPDM), Federal University of Ceara, Fortaleza, Ceara, Brazil.

Objective: To evaluate the expression of genes related to nuclear excision (, and ), homologous recombination and non-homologous end-joining (, , and ) repair mechanisms, using quantitative PCR methodologies, and it relation with bone marrow cellularity in myelodysplastic syndrome (MDS).

Methods And Results: A total of 51 adult de novo patients with MDS (3 refractory anaemia (RA), 11 refractory anaemia with ringed sideroblasts (RARS), 28 refractory cytopenia with multilineage dysplasia (RCMD), 3 refractory anaemia with excess blasts type I (RAEB-I), 5 refractory anaemia with excess blasts type II (RAEB-II), and 1 chronic myelomonocytic leukaemia (CMML) were evaluated. For karyotype, 16. Read More

Intern Med 2017 15;56(10):1213-1217. Epub 2017 May 15.

Division of Hematology, St Luke's International Hospital, Japan.

A 64-year-old woman was diagnosed to have refractory cytopenia with multilineage dysplasia (RCMD) including an increased number of sideroblasts in the bone marrow (BM). Computed tomography (CT) revealed a presacral mass which showed iso- or high-intensity signals according to T1-weighted and hypo-intensity signals on T2-weighted magnetic resonance imaging (MRI). CT-guided biopsy revealed the presence of hematopoietic tissue with features that correlated with the BM findings. Read More

Free Radic Biol Med 2017 07 12;108:1-7. Epub 2017 Mar 12.

Department of Biochemistry, Institute of Hematology and Blood Transfusion, U Nemocnice 1, 128 00 Prague 2, Czechia.

Myelodysplastic syndromes (MDS) represent a heterogeneous group of pre-leukemic disorders, characterized by ineffective hematopoiesis and the abnormal blood cell development of one or more lineages. Oxidative stress, as an important factor in the carcinogenesis of onco-hematological diseases, is also one of the known factors involved in the pathogenesis of MDS. An increase of reactive oxygen species (ROS) may lead to the oxidation of DNA, lipids, and proteins, thereby causing cell damage. Read More

J Occup Environ Med 2017 04;59(4):349-355

ExxonMobil Biomedical Sciences, Inc. (Drs Copley, Schnatter, Chen); TWA8HR Occupational Hygiene Consulting (Dr Armstrong), New Jersey; Huashan Hospital, Fudan University, China (Drs Irons, Wang, Kerzic); University of Colorado Anshutz Medical Center, Colorado (Dr Irons).

Objective: Due to the sparse data on benzene exposure and myelodysplastic syndrome (MDS) subtypes, we studied this relationship in patients from 29 hospitals in Shanghai, China.

Methods: We recruited 604 cases of MDS and 1193 controls matched on age, sex, and admission date. We interviewed subjects for information on workplace and lifestyle exposures, and developed semi-quantitative exposure estimates. Read More

Eur J Haematol 2017 Feb 1;98(2):154-159. Epub 2016 Nov 1.

Department of Haematology, Oncology and Internal Diseases, Medical University of Warsaw, Warsaw, Poland.

Objectives: The epidemiology of myelodysplastic syndromes (MDS) differs among countries. Here, we present the first epidemiological indices determined for Poland.

Methods: Twenty-one haematological centres participated in the study. Read More

Br J Haematol 2016 09 8;174(6):847-58. Epub 2016 Jul 8.

Department of Molecular Medicine, University of Pavia, Pavia, Italy.

Myeloid neoplasms with ring sideroblasts are currently categorized within the myelodysplastic syndromes (MDS) or myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in the World Health Organization classification. Recent findings have identified that the presence of ring sideroblasts in these disorders has a unique molecular basis, i.e. Read More

Arch Pathol Lab Med 2016 Jun;140(6):560-9

From the Departments of Laboratory Medicine (Drs Park and Lee), Internal Medicine (Dr Yoon), and the Cancer Research Institute (Drs Yoon and Lee), Seoul National University College of Medicine, Seoul, Korea; Department of Laboratory Medicine, National Cancer Center, Goyang-si, Korea (Dr Kong); and the Department of Laboratory Medicine, Hallym University College of Medicine, Anyang, Korea (Dr Kim).

Context: -At the initial diagnosis of myelodysplastic syndrome (MDS) and/or during follow-up, the evaluation of chromosomal abnormalities is based on standard G-banding, whereas the utility of fluorescence in situ hybridization (FISH) is still debated.

Objectives: -To investigate whether interphase fluorescence in situ hybridization (iFISH) clone size at initial diagnosis of MDS is correlated with survival and whether changes in clonal fraction by iFISH are concordant with the MDS International Working Group response criteria during follow-up.

Design: -A tailored FISH panel (-5/5q-, -7/7q-, +8, -20/20q-, and +1/1q+), based on reported cytogenetic changes in Korean patients with MDS, was performed in 81 patients with MDS at initial diagnosis and in 28 patients during follow-up. Read More

Asian Pac J Cancer Prev 2016 ;17(3):1049-52

Department of Hematology and Blood Bank, Liaquat National Hospital and Medical College, Karachi, Pakistan E-mail :

Background: Myelodysplastic syndrome (MDS) is a clonal disorder of hemopoeitic stem cells, characterized by infective hematopoiesis, peripheral cytopenias along with hypercellularity of marrow and marked dysplastic features. Our aim was to study the spectrum of the WHO classification in adult Pakistani patients with MDS at disease presentation.

Materials And Methods: This retrospective descriptive study was conducted at Liaquat National Hospital and Medical College, extending from January 2010 to December 2014. Read More