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Cytogenetic study of 50 Brazilian patients with primary myelodysplastic syndrome
Brazilian Journal of Genetics , 1997, DOI: 10.1590/S0100-84551997000100016
Abstract: in this work we analyzed cytogenetically 50 patients with primary myelodysplastic syndrome from several hospitals of rio de janeiro, brazil. the frequency of cytogenetic abnormalities was 32%. patients with refractory anemia, or refractory anemia with ringed sideroblasts, presented normal karyotypes or single abnormalities such as del(5q) or -y, while patients with refractory anemia with an excess of blasts, refractory anemia with an excess of blasts in transformation or chronic myelomonocytic leukemia showed complex karyotypes and single abnormalities involving chromosomes 7 or 8, which are related to a bad prognosis and an elevated risk of evolution to acute myeloid leukemia.
Cytogenetic study of 50 Brazilian patients with primary myelodysplastic syndrome  [cached]
Fernandez Teresa de Souza,Silva Maria Luiza M.,Souza Jamison M. de,Tabak Daniel
Brazilian Journal of Genetics , 1997,
Abstract: In this work we analyzed cytogenetically 50 patients with primary myelodysplastic syndrome from several hospitals of Rio de Janeiro, Brazil. The frequency of cytogenetic abnormalities was 32%. Patients with refractory anemia, or refractory anemia with ringed sideroblasts, presented normal karyotypes or single abnormalities such as del(5q) or -Y, while patients with refractory anemia with an excess of blasts, refractory anemia with an excess of blasts in transformation or chronic myelomonocytic leukemia showed complex karyotypes and single abnormalities involving chromosomes 7 or 8, which are related to a bad prognosis and an elevated risk of evolution to acute myeloid leukemia.
The association of bladder myeloid sarcoma and unclassified myelodysplastic/myeloproliferative disease  [PDF]
Mehmet S?nmez,ümit ?obano?lu,Sevdagül Mungan,Bircan S?nmez
Turkish Journal of Hematology , 2009,
Abstract: Myeloid sarcoma of the urinary bladder is a rare disorder. We report a 71-year-old man with hematuria who had a diffuse myeloid sarcoma of the bladder. He was also under follow-up for unclassified myeloproliferative/myelodysplastic disorder, diagnosed two months before. Abdominal ultrasonography and computed tomography findings were normal. Diagnostic cystoscopy revealed patchy areas of mucosal swelling with hyperemia. Histopathological examination of biopsies demonstrated a neoplasm composed of blasts showing myeloperoxidase positivity by immunohistochemistry. To our knowledge, the current case is the first case of myeloid sarcoma in the urinary bladder without evidence of a mass lesion, with a concurrent diagnosis of unclassifiable myelodysplastic/myeloproliferative disease.
Plasma protein alterations in the refractory anemia with excess blasts subtype 1 subgroup of myelodysplastic syndrome
Pavel Májek, Zuzana Reicheltová, Jiri Suttnar, Jaroslav Cermák, Jan E Dyr
Proteome Science , 2012, DOI: 10.1186/1477-5956-10-31
Abstract: A total of 24 plasma samples were depleted of fourteen high-abundant plasma proteins, analyzed with 2D SDS-PAGE, compared, and statistically processed with Progenesis SameSpots software. Proteins were identified by nanoLC-MS/MS. Retinol-binding protein 4 and leucine-rich alpha-2-glycoprotein were relatively quantified using mass spectrometry. 56 significantly differing spots were found; and in 52 spots 50 different proteins were successfully identified. Several plasma proteins that changed either in their level or modification have been described herein. The plasma level of retinol-binding protein 4 was decreased, while leucine-rich alpha-2-glycoprotein was modified in RAEB-1 patients. Changes in the inter-alpha-trypsin inhibitor heavy chain H4, altered protein fragmentation, or fragments modifications were observed.This study describes proteins, which change quantitatively or qualitatively in the plasma of RAEB-1 patients. It is the first report on qualitative changes in the leucine-rich alpha-2-glycoprotein in the RAEB-1 subgroup of myelodysplastic syndrome. Described changes in the composition or modification of inter-alpha-trypsin inhibitor heavy chain H4 fragments in RAEB-1 are in agreement with those changes observed in previous study of refractory cytopenia with multilineage dysplasia, and thus H4 fragments could be a marker specific for myelodysplastic syndrome.
Establishment and Validation of an Updated Diagnostic FCM Scoring System Based on Pooled Immunophenotyping in CD34+ Blasts and Its Clinical Significance for Myelodysplastic Syndromes  [PDF]
Feng Xu, Xiao Li, Chun-Kang Chang, Juan Guo, Ling-Yun Wu, Qi He, Zheng Zhang, Yang Zhu, Shu-Chen Gu, Wen-Hui Shi, Lu-Xi Song, Ji-Ying Su, Li-Yu Zhou, Xi Zhang, Dong Wu
PLOS ONE , 2014, DOI: 10.1371/journal.pone.0088706
Abstract: Abnormal immunophenotypes of hematopoietic cells can be detected by flow cytometry (FCM) to assist the diagnosis of myelodysplastic syndromes (MDS). We previously established a FCM scoring system for the diagnosis of low-grade MDS. In this study, additional valuable antigens were involved in an updated FCM scoring system (u-FCMSS) for all MDS subtypes. The u-FCMSS showed better sensitivity and specificity (89.4% and 96.5%) in distinguishing MDS from non-clonal cytopenia diseases. Validation analysis of u-FCMSS exhibited comparable sensitivity and specificity (86.7% and 93.3%) and high agreement rate (88.9%) of FCM diagnosis with morphological diagnosis at optimal cut-off (score 3). The distribution of FCM scores in different disease stages was also analyzed. The results suggested that early scoring from abnormal expression of mature myeloid/lymphoid antigens and advanced scoring from abnormal expression of stem/progenitor antigens expression constituted the majority of FCM scores of low-grade and high-grade MDS, respectively. High early scoring was generally accompanied by low IPSS-R score and superior survival, whereas high advanced scoring was accompanied by high IPSS-R score and inferior survival. In addition, the low-risk MDS patients with high early scoring and low advanced scoring were revealed as candidates for immunosuppressive therapy, whereas those with high advanced scoring and low early scoring may be more suitable for decitabine treatment. In conclusion, the u-FCMSS is a useful tool for diagnosis, prognosis and treatment selection in MDS. Differences in classes of antigens expressed and in distribution of FCM scores may reflect distinctive stage characteristics of MDS during disease progression.
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
Geetanjali Gupta, Reecha Singh, Dhananjay S Kotasthane, et al
Journal of Blood Medicine , 2010, DOI: http://dx.doi.org/10.2147/JBM.S12257
Abstract: dysplastic syndromes/neoplasms: recent classification system based on World Health Organization Classification of Tumors – International Agency for Research on Cancer for Hematopoietic and Lymphoid Tissues Review (4845) Total Article Views Authors: Geetanjali Gupta, Reecha Singh, Dhananjay S Kotasthane, et al Published Date August 2010 Volume 2010:1 Pages 171 - 182 DOI: http://dx.doi.org/10.2147/JBM.S12257 Geetanjali Gupta, Reecha Singh, Dhananjay S Kotasthane, Vaishali D Kotasthane Department of Pathology, Mahatma Gandhi Medical College and Research Institute, Puducherry-607402, India Abstract: 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. The clinicopathologic features, morphology, differential diagnosis, immunophenotyping, cytogenetics, prognosis and predictive factors are presented in the light of recent World Health Organization Classification of Tumors – International Agency for Research on Cancer.
Screening for hotspot mutations in PI3K, JAK2, FLT3 and NPM1 in patients with myelodysplastic syndromes
Machado-Neto, Jo?o Agostinho;Traina, Fabiola;Lazarini, Mariana;Campos, Paula de Melo;Pagnano, Katia Borgia Barbosa;Lorand-Metze, Irene;Costa, Fernando Ferreira;Saad, Sara T Olalla;
Clinics , 2011, DOI: 10.1590/S1807-59322011000500014
Abstract: introduction: myelodysplastic syndromes encompass a heterogeneous group of clonal hematopoietic stem cell disorders characterized by ineffective hematopoiesis, refractory cytopenia and a tendency to progress toward acute myeloid leukemia. the accumulation of genetic alterations is closely associated with the progression of myelodysplastic syndromes toward acute myeloid leukemia. objective: to investigate the presence of mutations in the points most frequent for mutations (hotspot mutations) in phosphatidylinositol-3-kinase (pi3k), janus kinase 2 (jak2), fms-like tyrosine kinase 3 (flt3) and nucleophosmin (npm1), which are involved in leukemia and other cancers, in a population of brazilian mds patients. methods: fifty-one myelodysplastic syndromes patients were included in the study. according to french-american-british classification, the patients were distributed as follows: 31 with refractory anemia, 8 with refractory anemia with ringed sideroblasts, 7 with refractory anemia with excess blasts, 3 with refractory anemia with excess blasts in transformation and 2 with chronic myelomonocytic leukemia. bone marrow samples were obtained and screened for the presence of hotspot mutations using analysis based on amplification with the polymerase chain reaction, sequencing, fragment size polymorphisms or restriction enzyme digestion. all patients were screened for mutations at the time of diagnosis, and 5 patients were also screened at the time of disease progression. results: in the genes studied, no mutations were detected in the patients at the time of diagnosis. one patient with chronic myelomonocytic leukemia was heterozygous for a janus kinase 2 mutation after disease progression. conclusions: these results show that hotspot mutations in the pi3k, jak2, flt3 and npm1 genes are not common in mds patients; nevertheless, jak2 mutations may be present in myelodysplasia during disease progression.
Durable Hematological and Major Cytogenetic Response in a Patient with Isolated 20q Deletion Myelodysplastic Syndrome Treated with Lenalidomide  [PDF]
Bagi Jana,Anas Khanfar,Mary Ninan
Case Reports in Oncological Medicine , 2014, DOI: 10.1155/2014/949515
Abstract: Myelodysplastic syndrome (MDS) is a clonal bone marrow disorder characterized by ineffective hematopoiesis. It is characterized by peripheral blood cytopenia and significant risk of progression to acute myeloid leukemia result. Deletion of the long arm of chromosome 20 (20q deletion) is present in 3–7% of patients with MDS. Lenalidomide is an immunomodulatory agent with antiangiogenic activity. It is FDA approved for the treatment of anemia in patients with low or int-1 risk MDS with chromosome 5q deletion with or without additional cytogenetic abnormalities. Study of lenalidomide in patients with MDS without 5q deletion but other karyotypic abnormalities demonstrated meaningful activity in transfusion dependent patients; however, response of patients with isolated 20q deletion to lenalidomide is not known. We are reporting a patient with 20q deletion MDS treated with lenalidomide after he failed to respond to azacytidine; to our knowledge this is the first report of a patient with isolated 20q deletion treated with lenalidomide. 1. Introduction Myelodysplastic syndrome (MDS) is a clonal bone marrow disorder characterized by ineffective hematopoiesis. The FDA approved lenalidomide for the treatment of anemia in patients with low or int-1 risk MDS with chromosome 5q deletion with or without additional cytogenetic abnormalities. Response of patients with isolated 20q deletion to lenalidomide is not known. We are reporting a patient with 20q deletion MDS treated with lenalidomide after he failed to respond to azacytidine; to our knowledge this is the first report of a patient with isolated 20q deletion treated with lenalidomide. 2. Case Report A 67-year-old man presented with feeling progressively weaker for few weeks. He noticed easy bruising several days prior to presentation. No overt bleeding or fever was reported. Patient was unable to function due to progressive weakness. Complete blood count revealed pancytopenia with WBC count of 1.6?M/mcL, hemoglobin of 8.6?g/dL, and platelet count of 53?K/mcL. absolute neutrophil count (ANC) was 600?K/mcL. MCV was 99.0?fL. Bone marrow aspirate and biopsy revealed increased myeloid blasts suggestive of high-grade myelodysplastic syndrome (as shown in Figures 1(a) and 1(b)). Flow cytometric analysis of bone marrow showed increased myeloid blasts expressing dim CD45, CD13, dim CD33, CD34, CD117, and HLA-DR (as shown in Figures 2(a) and 2(b)). Blasts represented 11% of marrow cellular events. IPSS cumulative score of 2 was determined by 11–20% of blasts (1.5) and 2-3 cytopenias (0.5). MDS and MLL FISH revealed
Generalized Lymphadenopathy as the First Presentation of Granulocytic Sarcoma: A Diagnostic Challenge  [PDF]
Ghaleb Elyamany,Mohammed Khan,Imad El Hag,Maha El-Zimaity,Mohamed Albalawi,Abdulaziz AL Abdulaaly
Case Reports in Medicine , 2013, DOI: 10.1155/2013/483291
Abstract: Introduction. Granulocytic sarcoma (GS), also known as chloroma or extramedullary myeloblastoma, is a solid tumor composed of primitive precursors of the granulocytic series that include myeloblasts, promyelocytes, and myelocytes. Granulocytic sarcoma is a rare tumor that may develop during acute myeloid leukemia (AML) but less frequently may precede its presentation. Although generalized lymph node enlargement is a presentation for malignant lymphoma, it can also rarely be the early presenting sign of GS. Methods. We present a case of GS mimicking lymphoma in a 45-year-old male. The patient presented with bilateral neck masses and had widespread, prominent lymphadenopathy secondary to AML as the first presenting manifestation of GS for the last 4 months with concurrent marrow AML. Result. A clinical diagnosis of lymphoma was suspected; fine needle aspiration cytology findings were also suggestive of lymphoma. However, peripheral blood and bone marrow examination reported as acute myeloid leukemia with monocytic differentiation and histopathology of excised lymph node confirmed it to be a GS not lymphoma. Conclusion. GS is often misdiagnosed as malignant lymphoma because of cytomorphologic and histologic similarities of the blasts to large cell lymphoma. A careful search for immature myeloid is a useful clue to the diagnosis accompanied with appropriate immunophenotyping. 1. Introduction Granulocytic sarcoma (GS) or myeloid sarcoma is a unique rare entity. In early reports, GS was known as chloroma, because of its rich myeloperoxidase content that appeared green. GS is a solid tumor composed of immature cells of the granulocyte series [1, 2]. Most GS present with multiple masses involving any part of the body [3]. These tumors may develop during or as a presenting sign of myelogenous leukemia but may precede acute myelogenous leukemia (AML) by months or years or represent the initial manifestation of relapse in a previously treated AML in remission [4, 5]. GS may herald leukemic transformation in myelodysplastic disorders or myeloproliferative neoplasms, including chronic myeloid leukemia, polycythemia rubra vera, myelofibrosis, and chronic eosinophilic leukemia [6, 7]. The incidence of myeloid sarcoma is 2.5 to 9.1% of the patients with AML and it is five times less frequent in patients with chronic myeloid leukemia. There is predilection for males with male and female ratio of 1.2?:?1 [8]. Skin, lymph node, gastrointestinal tract, brain, bone, soft tissues, and testis are more frequently affected. The major differential diagnosis is with malignant
Lipid Mediators and Human Leukemic Blasts  [PDF]
Rémi Fiancette,Christelle Vincent-Fabert,Estelle Guerin,Franck Trimoreau,Yves Denizot
Journal of Oncology , 2011, DOI: 10.1155/2011/389021
Abstract: Some of the most potent inflammatory mediators share a lipid origin. They regulate a wide spectrum of cellular processes including cell proliferation and apoptosis. However, the precise roles and ways (if any) in which these compounds impact the growth and apoptosis of leukemic blasts remain incompletely resolved. In spite of this, significant advances have been recently made. Here we briefly review the current knowledge about the production of lipid mediators (prostaglandins, leukotrienes, platelet-activating factor) by leukemic blasts, the enzymatic activities (phospholipase , cyclooxygenases, lipoxygenases) involved in their productions and their effects (through specific membrane bound receptors) on the growth, and apoptosis of leukemic blasts. 1. Introduction Some of the most potent inflammatory mediators share a lipid origin. The action of phospholipase A2 (PLA2) on membrane phospholipids produces free fatty acids such as arachidonic acid (AA) and the phospholipid backbone. To the former belongs eicosanoids (such as prostaglandins, prostacyclin, thromboxane, and leukotrienes) through the cyclooxygenase (COX) and lipoxygenase (LOX) pathways; and to the latter, platelet-activating factor (PAF) (Figure 1) [1, 2]. While countless studies have highlighted the actions of eicosanoids and PAF on normal human mature myeloid and lymphoid cells (from hematopoietic progenitors to mature blood cells), their effects on leukemic blasts are poorly documented, and furthermore, their putative involvements during leukemic diseases remain almost speculative. This paper focuses on new results about lipid mediators and human leukemic blast cells from acute myeloid (AML) and acute lymphoid (ALL) patients. The vast majority of results reported previously have been obtained with AML blasts without maturation according to the classification system of the World Health Organization, thus corresponding to the past AML M0-2 nomenclature. Figure 1: Simplified representation of the pathways involved in eicosanoid and platelet-activating factor formation and signal transduction. Enzymatic activities and receptors are in rectangles and ovals, respectively. PLA 2, phospholipase A 2; COX, cyclooxygenase; LOX, lipoxygenase; PGH 2, prostaglandin H 2; PGE 2, prostaglandin E 2; PGI 2, prostacyclin; TXA 2, thromboxane A 2; HPETE, hydroperoxyeicosatetraenoic acid; LTB 4, leukotriene B 4; HETE, hydroxyeicosatetraenoic acid; PAF, platelet-activating factor; PAFR, PAF receptor; EP 1-4, subtype 1–4 of the PGE 2 receptor; IP, PGI 2 receptor; TXA 2R, TXA 2 receptor; BLT 1-2, subtype 1 and 2 of
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