33 results match your criteria Refractory Cytopenia With Unilineage Dysplasia

Epigenetic changes in FOXO3 and CHEK2 genes and their correlation with clinicopathological findings in myelodysplastic syndromes.

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

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December 2020

Localized lymphadenopathy with myelodysplastic syndrome associated with tuberculosis.

Hematol Rep 2019 Nov 29;11(4):8147. Epub 2019 Nov 29.

First Department of Internal Medicine, Kansai Medical University Medical Center, Osaka.

We report the case of a man who developed myelodysplastic syndrome (MDS) and refractory cytopenia of unilineage dysplasia, 5 months after aortic valve replacement surgery. He also developed fever of unknown origin. After bone marrow- and other laboratory examinations, he was diagnosed with tuberculosis. Read More

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November 2019

Dyserythropoiesis evaluated by the RED score and hepcidin:ferritin ratio predicts response to erythropoietin in lower-risk myelodysplastic syndromes.

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

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Myelodysplastic Syndrome, Unclassifiable (MDS-U) With 1% Blasts Is a Distinct Subgroup of MDS-U With a Poor Prognosis.

Am J Clin Pathol 2017 Jul;148(1):49-57

Department of Pathology and Laboratory Medicine, Weill Cornell Medical College/New York Presbyterian Hospital, New York, NY.

Objectives: Three situations qualify as myelodysplastic syndrome, unclassifiable (MDS-U): (1) refractory cytopenia with dysplasia and 1% blasts in peripheral blood (BL), (2) pancytopenia with unilineage dysplasia (Pan), and (3) persistent cytopenia, less than 5% bone marrow blasts, and less than 10% dysplastic cells and presence of MDS-defining cytogenetic abnormalities (CG). We compared the clinicopathologic features and mutational profiles for these three groups.

Methods: MDS-U cases were reviewed at four major academic institutions. Read More

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Hospital-Based Case-Control Study of MDS Subtypes and Benzene Exposure in Shanghai.

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

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Recent advances in the understanding of myelodysplastic syndromes with ring sideroblasts.

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

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September 2016

Monitoring of the Clonal Fraction by Fluorescence In Situ Hybridization in Myelodysplastic Syndrome: Comparison With International Working Group Treatment Response Criteria.

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

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Spectrum of the WHO Classification De Novo Myelodysplastic Syndrome: Experience from Southern Pakistan.

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

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January 2017

[Serum Erythropoietin as Prognostic Marker in Myelodysplastic Syndromes].

Acta Med Port 2015 Nov-Dec;28(6):720-5. Epub 2015 Dec 31.

Serviço de Hematologia Clínica. Centro Hospitalar e Universitário de Coimbra. Coimbra. Portugal. Centro de Investigação em Meio Ambiente, Genética e Oncobiologia. Coimbra. Portugal. Faculdade de Medicina. Universidade de Coimbra. Coimbra. Portugal.

Introduction: This myelodysplastic syndromes are a heterogeneous entity characterized by dysplasia, hypercellular bone marrow, cytopenias and risk of transformation to acute leukaemia. Prognostic factors, such as bone marrow fibrosis, lactate dehydrogenase and 2-microglobulin elevation have been described, but treatment is mainly based in the International Prognostic Scoring System.

Material And Methods: Our aim was to analyze serum's erythropoietin at diagnosis in de novo myelodysplastic syndromes patients, through its impact in overall survival and possible implementation as prognostic marker. Read More

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Is chronic neutropenia always a benign disease? Evidences from a 5-year prospective study.

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

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October 2015

In patients with myelodysplastic syndromes with del(5q), factors other than age and sex contribute to the prognostic advantage, which diminishes over time.

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

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September 2015

[Analysis of the karyotype abnormalities and its prognostic in 298 patients with myelodysplastic syndrome].

Zhonghua Xue Ye Xue Za Zhi 2015 Apr;36(4):297-301

MDS Center, 1st Affiliated Hospital College of Medicine, Zhejiang University, Hangzhou 310003, China.

Objective: To investigate the relationship between cytogenetic markers with World Health Organization (WHO) classification, disease progress and prognosis in cases with primary myelodysplastic syndromes (MDS).

Methods: 298 patients with de novo MDS from the first affiliated hospital of medical school, Zhejiang University were enrolled in the retrospective analysis of WHO classification, karyotype, and prognosis. Follow-up study was also conducted. Read More

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Refractory thrombocytopenia and neutropenia: a diagnostic challenge.

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

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Interobserver variance in myelodysplastic syndromes with less than 5 % bone marrow blasts: unilineage vs. multilineage dysplasia and reproducibility of the threshold of 2 % blasts.

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

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Late hematological improvement of myelodysplastic syndrome following treatment with 5-azacitidine therapy.

Intern Med 2014 ;53(19):2241-3

Department of Hematology, NTT Medical Center Tokyo, Japan.

Recently, 5-azacitidine has been reported to improve the survival of patients with high-risk myelodysplastic syndrome (MDS) and was approved for the treatment of MDS in Japan. We herein report a case of high-risk MDS in which the patient exhibited a hematological improvement three months after the first cycle of 5-azacitidine therapy. The second cycle of 5-azacitidine was not administered due to a severe pulmonary infection. Read More

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Over-expression of cancerous inhibitor of PP2A (CIP2A) in bone marrow cells from patients with a group of high-risk myelodysplastic syndromes.

Pathol Oncol Res 2014 Apr 26;20(2):399-407. Epub 2013 Oct 26.

Department of Comprehensive Pathology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.

Cancerous inhibitor of PP2A (protein phosphatase 2A) (CIP2A) is an inhibitor of PP2A, a phosphatase and tumor suppressor that regulates cell proliferation, differentiation, and survival. The aim of this study was to investigate whether CIP2A plays a role in the progression of myelodysplastic syndromes (MDS). Immunohistochemical analysis revealed that a fraction patients having refractory anemia with excess blasts (RAEB)-1 (4 out of 12) and RAEB-2 (10 out of 14) exhibited significant expression of CIP2A in bone marrow hematopoietic cells, while all patients with refractory cytopenia with unilineage or multilineage dysplasia (RCUD/RCMD) (0 out of 18) and the control group (0 out of 17) were negative. Read More

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Isolated deletion of the long arm of chromosome 20 [del(20q12)] in myelodysplastic syndrome: a case report and literature review.

Singapore Med J 2013 Sep;54(9):e185-9

Pondicherry Institute of Medical Sciences, Ganapathychettykulam, Puducherry 605014, India.

Isolated deletion of the long arm of chromosome 20 [del(20q12)] is a rare abnormality in patients with de novo myelodysplastic syndrome. It is characterised by refractory thrombocytopenia, minimal haematological dysplasia and a lower risk for progression to acute myeloid leukaemia. Its distinction from chronic autoimmune thrombocytopenia, although clinically and morphologically difficult, is critical. Read More

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September 2013

[Myelodysplastic syndrome classification].

Ann Biol Clin (Paris) 2013 Mar-Apr;71(2):139-44

Laboratoire d'hématologie, CHU Farhat Hached, Sousse, Tunisia.

Myelodysplastic syndromes (MDS) are myeloid disorders with various clinical and biological presentations. The French-American-British (FAB-1982) classification included five categories basing on morphology and bone marrow blast count. Three criteria are taken into account: 1) the percentage of blasts in peripheral blood and bone marrow, 2) the percentage of ringed sideroblasts, and 3) the number of monocytes in peripheral blood. Read More

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October 2013

Increased plasma thrombopoietin levels in patients with myelodysplastic syndrome: a reliable marker for a benign subset of bone marrow failure.

Haematologica 2013 Jun 12;98(6):901-7. Epub 2013 Feb 12.

Cellular Transplantation Biology, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan.

Although myelodysplastic syndromes are heterogeneous disorders comprising a benign subset of bone marrow failure similar to aplastic anemia, no laboratory test has been established to distinguish it from bone marrow failures that can evolve into acute myeloid leukemia. Plasma thrombopoietin levels were measured in 120 patients who had myelodysplastic syndrome with thrombocytopenia (< 100 × 10(9)/L) to determine any correlation to markers associated with immune pathophysiology and outcome. Thrombopoietin levels were consistently low for patients with refractory anemia with excess of blasts, while patients with other myelodysplatic syndrome subsets had more variable results. Read More

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Single nucleotide polymorphism array-based karyotyping in acute myeloid leukemia or myelodysplastic syndrome with trisomy 8 as the sole chromosomal abnormality.

Acta Haematol 2013 30;129(3):154-8. Epub 2012 Nov 30.

Department of Laboratory Medicine, Ewha Womans University School of Medicine, Seoul, South Korea.

The clinical heterogeneity of patients with acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS) with trisomy 8 as the sole abnormality may result from cytogenetically undetectable genetic changes. The purpose of this study was to identify hidden genomic aberrations not detected by metaphase cytogenetics (MC) using high-resolution single nucleotide polymorphism array (SNP-A)-based karyotyping in AML/MDS patients with a sole trisomy 8. The study group included 8 patients (3 AML and 5 MDS) and array-based karyotyping was done using whole-genome SNP-A (SNP 6. Read More

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Inter-observer variance with the diagnosis of myelodysplastic syndromes (MDS) following the 2008 WHO classification.

Ann Hematol 2013 Jan 5;92(1):19-24. Epub 2012 Sep 5.

Department of Hematology, Hospital General Universitario Gregorio Marañon, Madrid, Spain.

Morphology is the basis of the diagnosis of myelodysplastic syndromes (MDS). The WHO classification offers prognostic information and helps with the treatment decisions. However, morphological changes are subject to potential inter-observer variance. Read More

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January 2013

Prediction of progression from refractory cytopenia with unilineage dysplasia by analysis of bone marrow blast cell composition.

J Clin Exp Hematop 2012 ;52(1):63-6

Department of Internal Medicine (I), Osaka Medical College, Takatsuki, Osaka, Japan.

A retrospective analysis of 71 patients newly diagnosed with refractory cytopenia with unilineage dysplasia (RCUD) revealed that 12 developed refractory anemia with an excess of blasts or acute myeloblastic leukemia. Before the diagnosis of RCUD was made, phenotypes of cells in the bone marrow (BM) blast region were analyzed using flow cytometry. Patients with RCUD were divided into two groups ; those with no progression (Group A) and those with disease progression later on (Group B). Read More

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October 2012

NAD(P)H: quinone oxidoreductase 1 deficiency conjoint with marginal vitamin C deficiency causes cigarette smoke induced myelodysplastic syndromes.

PLoS One 2011 31;6(5):e20590. Epub 2011 May 31.

Department of Biotechnology and Dr. B. C. Guha Centre for Genetic Engineering and Biotechnology, Calcutta University College of Science, Kolkata, West Bengal, India.

Background: The etiology of myelodysplastic syndromes (MDS) is largely unknown. Exposure to cigarette smoke (CS) is reported to be associated with MDS risk. There is inconsistent evidence that deficiency of NAD(P)H-quinone: oxidoreductase 1 (NQO1) increases the risk of MDS. Read More

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October 2011

Role of bone marrow imprints in haematological diagnosis: a detailed study of 3781 cases.

Cytopathology 2012 Apr 3;23(2):86-95. Epub 2010 Dec 3.

Department of Hematology, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.

Objectives: To explore the role of imprints in routine bone marrow (BM) diagnosis.

Methods: The cellularity and diagnostic accuracy of BM imprints, aspirate smears and trephine biopsy sections from 3781 patients were assessed using routine cytochemical staining. Seventy-nine cases of lymphoma and 114 cases of plasma cell myeloma (PCM) were selected for correlation analysis of tumour cell infiltration patterns. Read More

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[Value of imprint in bone marrow morphological examination].

Zhonghua Yi Xue Za Zhi 2010 Jun;90(22):1531-6

Laboratory of Bone Marrow, Department of Hematology, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310009, China.

Objective: To explore the role of bone marrow (BM) imprint in the diagnosis of hematological diseases.

Methods: Between January 2002 and June 2008, a total of 3024 cases with BM smears, imprints and sections conducted simultaneously were recruited. There were 1667 males and 1357 females with a median age of 55 years old (range: 7 to 92). Read More

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Recent advances in the diagnosis and classification of myeloid neoplasms--comments on the 2008 WHO classification.

Int J Lab Hematol 2010 Oct 7;32(5):461-76. Epub 2010 Jul 7.

The Department of Hematopathology, UT MD Anderson Cancer Center, Houston, TX 77030, USA.

The fourth edition of the World Health Organization (WHO) classification of myeloid neoplasms refined the criteria for some previously described myeloid neoplasms and recognized several new entities based on recent elucidation of molecular pathogenesis, identification of new diagnostic and prognostic markers, and progress in clinical management. Protein tyrosine kinase abnormalities, including translocations or mutations involving ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB, and FGFR1, have been used as the basis for classifying myeloproliferative neoplasms (MPN). Two new entities - refractory cytopenia with unilineage dysplasia and refractory cytopenia of childhood have been added to the group of myelodysplastic syndromes (MDS), and 'refractory anemia with excess blasts-1' has been redefined to emphasize the prognostic significance of increased blasts in the peripheral blood. Read More

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October 2010

Refractory cytopenia with unilineage dysplasia: analysis of prognostic factors and survival in 126 patients.

Leuk Lymphoma 2010 May;51(5):783-8

Department of Biotechnologies and Hematology, Via Benevento 6, 00161 Rome, Italy.

According to the revised WHO classification of 2008, dysplasia in > or = 10% of one bone marrow lineage and one cytopenia constitutes the low-risk category of unilineage cytopenia and unilineage dysplasia (UCUD). We retrospectively reclassified, according to WHO, low-risk MDS from our database and found 126 subjects with these features at diagnosis: 79 patients were categorized as refractory anemia (RA), 23 patients as refractory neutropenia (RN), and 24 as refractory thrombocytopenia (RT). We did not find differences between the three subgroups as regards sex, median age, and cytogenetic aberrations. Read More

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Myelodysplastic syndromes/neoplasms: recent classification system based on World Health Organization Classification of Tumors - International Agency for Research on Cancer for Hematopoietic and Lymphoid Tissues.

J Blood Med 2010 25;1:171-82. Epub 2010 Aug 25.

Department of Pathology, Mahatma Gandhi Medical College and Research Institute, Puducherry-607402, India.

The myelodysplastic Syndromes (MDS) are a group of clonal hematopoietic stem cell diseases characterized by cytopenia(s), dysplasia in one or more of the major myeloid cell lines, ineffective hematopoiesis, and increased risk of development of acute myeloid leukemia. The classification and the diagnostic criteria have been redefined by the recent World Health Organization Classification of Tumors - International Agency for Research on Cancer for Hematopoietic and Lymphoid Tissues. The myelodysplastic syndromes are now classified into the following categories - refractory cytopenia with unilineage dysplasia, refractory anemia with ring sideroblasts, refractory cytopenia with multilineage dysplasia, refractory anemia with excess blasts, myelodysplastic syndrome associated with isolated del (5q), myelodysplastic syndrome - unclassifiable, and childhood myelodysplastic syndrome. Read More

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Differences in the distribution of subtypes according to the WHO classification 2008 between Japanese and German patients with refractory anemia according to the FAB classification in myelodysplastic syndromes.

Leuk Res 2010 Aug;34(8):974-80

Department of Hematology, Saitama International Medical Center, Saitama Medical University, 1397-1 Yamane, Hidaka, Saitama, Japan.

We reported the different clinical features between Japanese and German refractory anemia (RA) patients in FAB classification. We re-analyzed the clinical features by WHO classification revised in 2008. The frequencies of refractory cytopenia with unilineage dysplasia (RCUD) and myelodysplastic syndrome-unclassified (MDS-U) with pancytopenia in Japanese patients were higher than in German patients (p<0. Read More

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Integrating WHO 2001-2008 criteria for the diagnosis of Myelodysplastic Syndrome (MDS): a case-case analysis of benzene exposure.

Chem Biol Interact 2010 Mar 24;184(1-2):30-8. Epub 2009 Nov 24.

Fudan-Cinpathogen Clinical and Molecular Research Center, Institutes of Biomedical Sciences, Fudan University, Shanghai, China.

We characterized the prevalence of hematopoietic and lymphoid disease for 2923 consecutive patients presenting at 29 hospitals from August 2003 to June 2007. Diagnoses were made in our laboratory using WHO criteria based on morphologic, immunophenotypic, cytogenetic, FISH and molecular data. A total of 611 subjects (322 males/289 females) were prospectively diagnosed with MDS using WHO (2001) criteria. Read More

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