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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 Oct 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

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.

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 2018 Mar 2. 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

Int J Hematol 2016 Apr 3;103(4):360-4. Epub 2016 Mar 3.

Department of Pediatrics, St. Luke's International Hospital, 9-1, Akashi-cho, Chuo-ku, Tokyo, 104-8560, Japan.

Myelodysplastic syndrome (MDS) without increased blasts, i.e., low-grade MDS, is the most common subtype of pediatric MDS and has characteristics different from adult form of the disease. Read More

Ann Biol Clin (Paris) 2016 Jan-Feb;74(1):106-9

Laboratoire d'hématologie et immunologie, Centre Hospitalier, Le Mans, France.

Paroxysmal nocturnal hemoglobinuria is a rare clonal non-malignant disease, linked to an acquired PIG-A gene mutation. We report the case of 81 years old patient hospitalized for articular ache, swelling and temporal arteries' induration in which we diagnose PNH associated with refractory cytopenia with multilineage dysplasia. Read More

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2015 Dec;23(6):1638-46

Department of Hematology, Huashan Hospital, Fudan Universtiy, Shanghai, 200040, China.

Objective: To establish a nested case-control study cohort in myelodysplastic syndrome (MDS) patients and investigate the clinical characteristics, WHO subtype and risk factors associated with MDS evolution to leukemia of this cohort.

Methods: All patients, ≥18 years of age, provided by 24 Shanghai hospitals with initial clinical findings consistent with a hematopoietic abnormality between June 2003 and April 2007, were the candidates for inclusion in this study. The blood and bone marrow samples of every patient should be provided at baseline. Read More

Hematology Am Soc Hematol Educ Program 2015 ;2015:19-25

Department of Hematology Oncology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo, Pavia; and Department of Molecular Medicine, University of Pavia Medical School, Pavia, Italy.

The sideroblastic anemias are a heterogeneous group of inherited and acquired disorders characterized by the presence of ring sideroblasts in the bone marrow. X-linked sideroblastic anemia (XLSA) is caused by germline mutations in ALAS2. Hemizygous males have a hypochromic microcytic anemia, which is generally mild to moderate and is caused by defective heme synthesis and ineffective erythropoiesis. Read More

Biomed Res Int 2015 13;2015:209745. Epub 2015 Sep 13.

Department of Biochemistry, Institute of Hematology and Blood Transfusion, U Nemocnice 1, 128 20 Prague 2, Czech Republic.

In recent years the plasma proteomes of several different myelodysplastic syndrome (MDS) subgroups have been investigated and compared with those of healthy donors. However, the resulting data do not facilitate a direct and statistical comparison of the changes among the different MDS subgroups that would be useful for the selection and proposal of diagnostic biomarker candidates. The aim of this work was to identify plasma protein biomarker candidates for different MDS subgroups by reanalyzing the proteomic data of four MDS subgroups: refractory cytopenia with multilineage dysplasia (RCMD), refractory anemia or refractory anemia with ringed sideroblasts (RA-RARS), refractory anemia with excess blasts subtype 1 (RAEB-1), and refractory anemia with excess blasts subtype 2 (RAEB-2). Read More

Haematologica 2015 Nov 13;100(11):1426-33. Epub 2015 Aug 13.

Department of Pediatrics, Nagoya University Graduate School of Medicine, Kobe, Japan

The 2008 World Health Organization classification proposed a new entity in childhood myelodysplastic syndrome, refractory cytopenia of childhood. However, it is unclear whether this morphological classification reflects clinical outcomes. We retrospectively reviewed bone marrow morphology in 186 children (median age 8 years; range 1-16 years) who were enrolled in the prospective study and received horse antithymocyte globulin and cyclosporine between July 1999 and November 2008. Read More

Eur J Intern Med 2015 Oct 8;26(8):611-5. Epub 2015 Jun 8.

U.O. Oncoematologia, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy. Electronic address:

Aim: To evaluate infections and oncohematologic evolution in adult patients with chronic idiopathic and autoimmune neutropenia in a prospective study.

Patients And Methods: 76 consecutive patients were enrolled from September 2008 to April 2012. Complete blood counts and clinical evaluation were performed at enrolment, at month 3, 6, and then every 6 months. Read More

Rinsho Ketsueki 2015 Apr;56(4):412-7

Hematology, Graduate School of Medicine, Osaka City University.

Myelodysplastic syndrome (MDS) is known to often be complicated by a range of autoimmune diseases. We herein present a case with MDS complicated by cold autoimmune hemolytic anemia (cold AIHA). The patient was a 51-year-old woman. Read More

Biomed Res Int 2015 16;2015:872983. Epub 2015 Apr 16.

Institute of Hematology and Blood Transfusion, U Nemocnice 1, 128 20 Prague 2, Czech Republic.

Our aim was to search for proteome changes in peripheral blood mononuclear cells (PBMCs) of MDS patients with refractory cytopenia with multilineage dysplasia. PBMCs were isolated from a total of 12 blood samples using a Histopaque-1077 solution. The proteins were fractioned, separated by 2D SDS-PAGE (pI 4-7), and double-stained. Read More

Br J Haematol 2015 Sep 11;170(5):687-93. Epub 2015 May 11.

Klinik für Hämatologie Onkologie und Klinische Immunologie, Heinrich-Heine-Universität, Düsseldorf, Germany.

This study aimed to determine the extent to which the prognostic advantage of myelodysplastic syndromes (MDS) with del(5q) is due to the more favourable age and sex distribution of patients in that group when compared to other MDS subtypes. A total of 1912 MDS patients from the Duesseldorf registry with less than 5% blasts in the bone marrow were evaluable and had complete covariates. As endpoints, overall survival and progression to acute myeloid leukaemia (AML) were considered. Read More

Blood 2015 Jul 8;126(2):233-41. Epub 2015 May 8.

Center for Hematology and Regenerative Medicine, Karolinska University Hospital, Stockholm, Sweden;

Refractory anemia with ring sideroblasts (RARS) is a myelodysplastic syndrome (MDS) characterized by isolated erythroid dysplasia and 15% or more bone marrow ring sideroblasts. Ring sideroblasts are found also in other MDS subtypes, such as refractory cytopenia with multilineage dysplasia and ring sideroblasts (RCMD-RS). A high prevalence of somatic mutations of SF3B1 was reported in these conditions. Read More

Zhongguo Zhong Xi Yi Jie He Za Zhi 2015 Jan;35(1):53-6

Objective: To evaluate the clinical efficacy of treating myelodysplastic syndrome (MDS) by hematopoietic stem cell transplantation (HSCT) combined with Chinese medical syndrome typing.

Methods: From July 2009 to July 2013, 6 MDS patients were treated with allo-HSCT combined with Chinese medical syndrome typing from HLA-identical sibling donors at Department of Hematology, Zhejiang Provincial Hospital of Chinese Medicine. Patients were classified as refractory anemia (RA, 2 cases), refractory anemia with ringed sideroblast (RARS, 1 case), refractory cytopenia with multilineage dysplasia (RCMD, 2 cases), and RA with excess blasts-I (RAEB-I , 1 case). Read More

Mediterr J Hematol Infect Dis 2015 18;7(1):e2015018. Epub 2015 Feb 18.

Groupe Francophone des Myélodysplasies, Hôpital Saint Louis, AP-HP, Paris, France ; Service d'hematologie seniors, Hopital Saint Louis, AP-HP and Paris 7 University, Paris, France.

The 2008 WHO classification identified refractory cytopenia with unilineage dysplasia (RCUD) as a composite entity encompassing refractory anemia, refractory thrombocytopenia (RT), and refractory neutropenia (RN), characterized by 10% or more dysplastic cells in the bone marrow respective lineage. The diagnosis of RT and RN is complicated by several factors. Diagnosing RT first requires exclusion of familial thrombocytopenia, chronic auto-immune thrombocytopenia, concomitant medications, viral infections, or hypersplenism. Read More

Leuk Res Rep 2015 16;4(1):1-3. Epub 2014 Dec 16.

Department of Internal Medicine at Baylor College of Medicine, Houston, TX, USA ; Department of Medicine, Hematology and Oncology Section, Baylor College of Medicine, Houston, TX, USA.

Refractoriness to growth factor therapy is commonly associated with inferior outcome in patients with low-risk myelodysplastic syndrome (LR-MDS) who require treatment for cytopenias. However, the mechanisms leading to refractoriness are unknown. Here we describe a clinically depressed 74-year-old male with refractory cytopenia with multilineage dysplasia (RCMD) and documented growth factor refractory anemia after erythropoeisis stimulating agent (ESA) therapy, who attained transfusion and growth factor independence after the addition of sertraline to his medication regimen. Read More

Am J Blood Res 2015 25;5(2):86-90. Epub 2015 Dec 25.

Department of Laboratory Medicine, Rizk Hospital University Medical Center Beirut, Lebanon.

Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematopoietic disorders characterized by peripheral blood cytopenias, blood cells dysplasia, and increased risk for progression to acute leukemia.Physicians should be vigilant in diagnosing MDS and should be aware of the contemporary therapies that are always in progress. Most of the data on MDS epidemiology and management comes from developed countries. Read More

Turk J Haematol 2014 Dec;31(4):394-8

Cairo University Faculty of Medicine, Department of Clinical Hematology, Cairo, Egypt. E-ma-il:

Objective: Hepcidin plays a pivotal role in iron homeostasis. It is predominantly produced by hepatocytes and inhibits iron release from macrophages and iron uptake by intestinal epithelial cells. Competitive ELISA is the current method of choice for the quantification of serum hepcidin because of its lower detection limit, low costs, and high throughput. Read More

Leuk Res 2015 Feb 2;39(2):164-9. Epub 2014 Dec 2.

School of Population Health, The University of Western Australia, 35 Stirling Highway, Crawley, Perth 6009, WA, Australia. Electronic address:

Epidemiologic data suggest that green tea consumption may protect against certain cancers, but no previous study has examined myelodysplastic syndromes (MDS). A hospital-based case-control study was conducted in China in 2012-2013 to investigate the association between tea intake and the risk of de novo MDS in adults. The study included 208 cases aged 19-85 years with MDS and 208 controls individually matched to the cases by gender, 5-year age group and residential locality. Read More

Ann Hematol 2015 Apr 13;94(4):565-73. Epub 2014 Nov 13.

Department of Hematology, Hospital General Universitario Gregorio Marañon, C/ Doctor Esquerdo 46, 28007, Madrid, Spain,

Previous studies have shown the reproducibility of the 2008 World Health Organization (WHO) classification in myelodysplastic syndromes (MDS), especially when multilineage dysplasia or excess of blasts are present. However, there are few data regarding the reproducibility of MDS with unilineage dysplasia. The revised International Prognostic Scoring System R-IPSS described two new morphological categories, distinguishing bone marrow (BM) blast cell count between 0-2 % and >2- < 5 %. Read More

Lab Invest 2014 Nov 8;94(11):1212-23. Epub 2014 Sep 8.

Department of Comprehensive Pathology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.

The bone marrow microenvironment, known as 'hematopoietic stem cell niche,' is essential for the survival and maintenance of hematopoietic stem cells. Myelodysplastic syndromes (MDS) are a group of clonal hematopoietic stem cell diseases, which eventually result in leukemic transformation (acute myelogenous leukemia with myelodysplasia-related changes, AML-MRC). However, the precise components and functions of the MDS niche remain unclear. Read More

Br J Haematol 2014 Sep 4;166(5):758-66. Epub 2014 Jun 4.

Department of Paediatrics, St. Luke's International Hospital, Tokyo, Japan.

This study analysed 65 children who were prospectively registered between 1999 and 2008 and fulfilled the World Health Organization 2008 criteria of refractory cytopenia of childhood (RCC). First-line therapy was determined by the treating physicians: 25 patients received immunosuppressive therapy (IST), 12 patients received haematopoietic stem cell transplantation (HSCT) and one patient received intensive chemotherapy. The remaining 27 patients were followed without treatment for more than 2 years (watch and wait; WW). Read More

Br J Haematol 2014 Sep 26;166(5):720-8. Epub 2014 May 26.

Department of Haematology, Tokyo Women's Medical University, Tokyo, Japan.

Myelodysplastic syndromes (MDS) are heterogeneous clonal disorders characterized by cytopenias that arise due to ineffective haematopoiesis and morphological dysplasia and carry an increased risk of incident acute myeloid leukaemia. The pathogenesis of marrow dysfunction in MDS is multifactorial and consistent with a multistep model and may lead to heterogeneity of MDS. We investigated the proteome profile of circulating neutrophils purified from patients with refractory cytopenia with multilineage dysplasia (RCMD) to identify proteins that have a role in the pathogenesis. Read More

Proc Natl Acad Sci U S A 2014 Jun 21;111(23):8589-94. Epub 2014 May 21.

State Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Rui Jin Hospital, Shanghai Jiao Tong University School of Medicine, and Key Laboratory of Systems Biomedicine of Ministry of Education, Shanghai Center for Systems Biomedicine, Shanghai Jiao Tong University, Shanghai 200025, China;

Myelodysplastic syndrome (MDS) includes a group of diseases characterized by dysplasia of bone marrow myeloid lineages with ineffective hematopoiesis and frequent evolution to acute myeloid leukemia (AML). Whole-genome sequencing was performed in CD34(+) hematopoietic stem/progenitor cells (HSPCs) from eight cases of refractory anemia with excess blasts (RAEB), the high-risk subtype of MDS. The nucleotide substitution patterns were found similar to those reported in AML, and mutations of 96 protein-coding genes were identified. Read More

Best Pract Res Clin Haematol 2013 Dec 1;26(4):377-85. Epub 2013 Oct 1.

Department of Molecular Medicine, University of Pavia, Pavia, Italy; Division of Hematology, Department of Hematology Oncology, Fondazione IRCCS Policlinico S. Matteo, Pavia, Italy. Electronic address:

Refractory anemia with ring sideroblasts (RARS) is a subtype of myelodysplastic syndrome (MDS) characterized by 15% or more ring sideroblasts in the bone marrow according to the WHO classification. After Perls staining, ring sideroblasts are defined as erythroblasts in which there are 5 or more siderotic granules covering at least a third of the nuclear circumference. The iron deposited in perinuclear mitochondria of ring sideroblasts is present in the form of mitochondrial ferritin. Read More

Biol Blood Marrow Transplant 2014 Apr 16;20(4):549-55. Epub 2014 Jan 16.

Clinical Research Division, Fred Hutchinson Cancer Research Center and Department of Medicine, University of Washington School of Medicine, Seattle, Washington.

Allogeneic hematopoietic cell transplantation (HCT) offers curative therapy for many patients with myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). However, post-HCT relapse remains a major problem, particularly in patients with high-risk cytogenetics. In this prospective phase II trial, we assessed the efficacy and toxicity of treosulfan, fludarabine, and 2 Gy total body irradiation (TBI) as conditioning for allogeneic HCT in patients with MDS or AML. Read More

Eur J Cancer 2014 Mar 31;50(5):1004-12. Epub 2013 Dec 31.

Department of Hematology, Erasmus MC Cancer Institute, Erasmus University Medical Center, Rotterdam, The Netherlands. Electronic address:

Background: Studies with long-term follow-up of patients with myelodysplastic syndromes (MDS) based on data from nationwide population-based cancer registries are lacking. We conducted a nationwide population-based study to assess trends in incidence, initial treatment and survival in MDS patients diagnosed in the Netherlands from 2001 to 2010.

Methods: We identified 5144 MDS patients (median age, 74 years) from the Netherlands Cancer Registry (NCR). Read More

Leuk Res Rep 2013 9;2(1):15-7. Epub 2013 Feb 9.

Oncology Unit, St. Anna Hospital, Como, Italy.

Isochromosome 5p-i(5)(p10)-represents a rare but recurrent abnormality in myeloid disorders, especially in acute myeloid leukemia. In all published cases, the isochromosome 5p was present in single copy and accompanied by one or more additional anomalies, mostly trisomy 8. Here we report a case of refractory cytopenia with multilineage dysplasia with two copies of isochromosome 5p, a single normal chromosome 5and an apparently balanced translocation between long arms of chromosome 7and 10. Read More

Epigenomics 2013 ;5(5):482

Genet Mol Res 2013 Nov 22;12(4):5858-62. Epub 2013 Nov 22.

Laboratório de Biologia Molecular, Centro de Transplante de Medula Óssea, Instituto Nacional do Câncer, Rio de Janeiro, RJ, Brasil

Myelodysplastic syndrome diagnosis of karyotypically normal patients may be elusive because it relies exclusively on morphological and clinical data. In routine practice, finding of an acquired mutation or a cytogenetic abnormality provides irrefutable evidence of the clonal nature of that disease. Recurrent deletions and somatic mutations in TET2, a gene involved in epigenetic regulation, have been reported in about 20% of adult patients with myelodysplastic syndrome. Read More

Oncol Lett 2013 Dec 10;6(6):1774-1778. Epub 2013 Oct 10.

Hematology Division, P.O. San Gennaro ASL NA1 Centro, Naples I-80136, Italy.

Myelodysplastic syndromes (MDSs) are characterized by ineffective hematopoiesis that results in peripheral cytopenias. Anemia is the most common symptom of MDS and the majority of patients become transfusion-dependent with the risk of iron overload, which may lead to cardiac, hepatic and endocrine complications. Deferasirox is an orally available iron chelator administered once-daily in transfusion-dependent patients with various chronic anemias. Read More