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myelodysplasia syndrome

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https://www.readbyqxmd.com/read/29742616/spontaneous-remission-of-monosomy-7-six-years-after-diagnosis
#1
Holly J Edington, Eric J Lowe
Monosomy 7 may be a poor prognostic indicator in pediatric myelodysplastic syndrome. There are case reports of children with monosomy 7 who undergo spontaneous remission 2 to 24 months after diagnosis. We report a case of a child with bone marrow failure and monosomy 7 who underwent spontaneous remission 75 months after diagnosis. The patient had no exposure to chemotherapeutic or immunosuppressive agents. The patient did not receive chemotherapy or other treatment during the 75 months. Despite remaining positive for monosomy 7, he never developed myelodysplasia or acute myeloid leukemia...
May 8, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29741254/present-status-and-perspective-of-laboratory-hematology-in-japan-on-the-standardization-of-blood-cell-morphology-including-myelodysplasia-on-behalf-of-the-japanese-society-for-laboratory-hematology
#2
REVIEW
K Tohyama
The Japanese Society for Laboratory Hematology (JSLH) was launched in 2000 and has been developed by a mutual collaboration of hematologists, medical technologists, and the companies involved in hematological laboratory testing. The aim of JSLH is the progress and development of laboratory hematology by academic conferences, periodic publication of academic journal, training and education (in the meeting, the journal, or the website), promotion of the standardization of laboratory hematology, and certification of the laboratory hematology specialists...
May 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29672642/runx1-pdcd6-fusion-resulting-from-a-novel-t-5-21-p15-q22-chromosome-translocation-in-myelodysplastic-syndrome-secondary-to-chronic-lymphocytic-leukemia
#3
Ioannis Panagopoulos, Ludmila Gorunova, Eva-Marie Jacobsen, Kristin Andersen, Francesca Micci, Sverre Heim
Leukemic cells often carry chromosome aberrations which generate chimeric genes of pathogenetic, diagnostic, and prognostic importance. New rearrangements giving rise to novel fusion genes define hitherto unrecognized genetic leukemia subgroups. G-banding, fluorescence in situ hybridization (FISH), and molecular genetic analyses were done on bone marrow cells from a patient with chronic lymphocytic leukemia (CLL) and secondary myelodysplasia. The G-banding analysis revealed the karyotype 46,XX,del(21)(q22)[9]/46,XX[2]...
2018: PloS One
https://www.readbyqxmd.com/read/29668470/secondary-hodgkin-lymphoma-and-myelodysplastic-syndrome-mds-after-paclitaxel-carboplatin-treatment-in-a-patient-with-small-cell-lung-cancer
#4
Marija Petrusevska, Irina Panovska Stavridis, Kristina Mladenovska, Gordana Petrushevska
Herein synchronous occurrence of Hodgkin lymphoma and secondary myelodysplastic syndrome in a 60 year old male patient with small cell lung cancer treated with combined chemotherapy (carboplatin and paclitaxel) and radiotherapy is presented. The objective of this report is to stress the importance of documenting and monitoring adverse drug reactions that arise from chemotherapy. After four years of treatment with the combined chemotherapy, the patient presented inguinal lymphadenopathy and enlarged lymph nodes and histopathology rapport was suggestive for plasmacytoid variant of Castleman disease...
December 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/29620682/gata2-deficiency-due-to-de-novo-complete-monoallelic-deletion-in-an-adolescent-with-myelodysplasia
#5
Donald C Vinh, Laura Palma, John Storring, William D Foulkes
GATA2 deficiency is an inherited bone marrow failure syndrome that can manifest with myelodysplasia (myelodysplastic syndrome) with chromosomal aberrations and high risk of evolution to leukemia (particularly, acute myeloid leukemia); immunodeficiency with opportunistic infections; and/or lymphedema. It can be transmitted in families in autosomal-dominant fashion, or present de novo as sporadic disease in adults or children. The authors report a case of an adolescent male with features of GATA2 deficiency resulting from a complete monoallelic deletion, review chromosomal anomalies associated with this disorder, and discuss the management implications...
April 3, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29605372/emberger-syndrome-a-rare-association-with-hearing-loss
#6
Faisal Zawawi, Meirav Sokolov, Thomas Mawby, Karen A Gordon, Blake C Papsin, Sharon L Cushing
Emberger Syndrome (ES) is a rare genetic disorder characterized by lymphedema and myelodysplasia. It is also associated with hearing loss. The genetic mutations associated with ES are not part of the comprehensive 80 gene next generation sequencing (NGS) panel. As a result, the otolaryngologist should maintain an index of suspicion for ES in any child with SNHL who presents repeatedly with recurrent infections, lymphedema and/or cutaneous warts. This paper describes the clinical evolution and management of two children who were followed up for hearing loss and eventually were diagnosed with ES...
May 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29564138/a-pilot-study-on-the-usefulness-of-peripheral-blood-flow-cytometry-for-the-diagnosis-of-lower-risk-myelodysplastic-syndromes-the-mds-thermometer
#7
Ana Aires, Maria Dos Anjos Teixeira, Catarina Lau, Cláudia Moreira, Ana Spínola, Alexandra Mota, Inês Freitas, Jorge Coutinho, Margarida Lima
Background: Immunophenotypic analysis of the bone marrow (BM) cells has proven to be helpful in the diagnosis of Myelodysplastic Syndromes (MDS). However, the usefulness of flow cytometry (FCM) for the detection of myelodysplasia in the peripheral blood (PB) still needs to be investigated. The aim of this pilot study was to evaluate the value of FCM-based PB neutrophil and monocyte immunophenotyping for the diagnosis of lower risk MDS (LR-MDS). Methods: We evaluated by 8-color FCM the expression of multiple cell surface molecules (CD10, CD11b, CD11c, CD13, CD14, CD15, CD16, CD34, CD45, CD56, CD64 and HLA-DR) in PB neutrophils and monocytes from a series of 14 adult LR-MDS patients versus 14 normal individuals...
2018: BMC Hematology
https://www.readbyqxmd.com/read/29535429/samd9-and-samd9l-in-inherited-predisposition-to-ataxia-pancytopenia-and-myeloid-malignancies
#8
REVIEW
Josef Davidsson, Andreas Puschmann, Ulf Tedgård, David Bryder, Lars Nilsson, Jörg Cammenga
Germline mutations in the SAMD9 and SAMD9L genes, located in tandem on chromosome 7, are associated with a clinical spectrum of disorders including the MIRAGE syndrome, ataxia-pancytopenia syndrome and myelodysplasia and leukemia syndrome with monosomy 7 syndrome. Germline gain-of-function mutations increase SAMD9 or SAMD9L's normal antiproliferative effect. This causes pancytopenia and generally restricted growth and/or specific organ hypoplasia in non-hematopoietic tissues. In blood cells, additional somatic aberrations that reverse the germline mutation's effect, and give rise to the clonal expansion of cells with reduced or no antiproliferative effect of SAMD9 or SAMD9L include complete or partial chromosome 7 loss or loss-of-function mutations in SAMD9 or SAMD9L...
February 25, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/29496305/juvenile-myelomonocytic-leukemia-with-t-3-5-q25-q35-auer-rods-and-marked-myelodysplasia
#9
Weijie Li, Linda D Cooley, Keith August
Juvenile myelomonocytic leukemia (JMML) is a rare aggressive childhood leukemia characterized by an excess proliferation of cells of granulocytic and monocytic lineages. The WHO classifies JMML with the myelodysplastic/myeloproliferative neoplasms. Myelodysplasia in JMML is usually minimal to mild. Auer rods have never been reported in JMML. We present a 2-year-old boy with splenomegaly, leukocytosis, thrombocytopenia, anemia, and excess myeloblasts with easily seen Auer rods, and marked dysgranulopoiesis and dyserythropoiesis...
December 5, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/29476317/atypical-erythroblastosis-in-a-patient-with-diamond-blackfan-anemia-who-developed-del-20q-myelodysplasia
#10
Motoshi Sonoda, Masataka Ishimura, Yuko Ichimiya, Eiko Terashi, Katsuhide Eguchi, Yasunari Sakai, Hidetoshi Takada, Asahito Hama, Hitoshi Kanno, Tsutomu Toki, Etsuro Ito, Shouichi Ohga
Diamond-Blackfan anemia (DBA) is a congenital red cell aplasia arising from ribosomal protein (RP) defects. Affected patients present with neonatal anemia, occasional dysmorphism, and cancer predisposition. An anemic newborn was diagnosed with DBA due to RPL5 mutation (c.473_474del, p.K158SfsX26). Refractory anemia required regular transfusions and iron chelation therapy. Pancytopenia occurred at age 16 years. Bone-marrow studies showed myelodysplasia, erythroblastosis, and clonal evolution of del(20)(q11...
February 23, 2018: International Journal of Hematology
https://www.readbyqxmd.com/read/29383307/colonic-angioectasia-in-an-adolescent-boy-with-hoyeraal-hreidarsson-on-long-term-anabolic-steroid-therapy
#11
Racha Khalaf, Carmen Cuffari
Androgen therapy has proven efficacy in treating patients with bone marrow failure who are not candidates for bone marrow transplantation. Herein, we report on a case of colonic angioectasia secondary to oxymetholone use in an adolescent patient with Hoyeraal-Hreidarsson syndrome (HHS). A 13-year-old Caucasian male with HHS characterized by cerebellar hypoplasia, developmental delay, microcephaly, esophageal strictures and myelodysplasia presented with severe hematochezia from colonic angioectasia secondary to long-term oxymetholone therapy...
January 2018: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/29343653/establishment-of-a-screening-system-to-identify-novel-gata-2-transcriptional-regulators
#12
Keiichi Ohashi, Tohru Fujiwara, Koichi Onodera, Yo Saito, Satoshi Ichikawa, Masahiro Kobayashi, Yoko Okitsu, Noriko Fukuhara, Yasushi Onishi, Hideo Harigae
Hematopoietic stem cells can self-renew and differentiate into all blood cell types. The transcription factor GATA-2 is expressed in hematopoietic stem and progenitor cells and is essential for cell proliferation and differentiation. Heterozygous germline GATA2 mutations induce GATA-2 deficiency syndrome, characterized by monocytopenia, a predisposition to myelodysplasia and acute myeloid leukemia, and a profoundly reduced dendritic cell (DC) population, which is associated with increased susceptibility to viral infections...
2018: Tohoku Journal of Experimental Medicine
https://www.readbyqxmd.com/read/29296795/erythropoiesis-stimulating-agents-in-elderly-patients-with-anemia-response-and-cardiovascular-outcomes
#13
Zachary Gowanlock, Swetha Sriram, Alison Martin, Anargyros Xenocostas, Alejandro Lazo-Langner
A specific cause of anemia cannot be identified in many elderly patients. Erythropoiesis-stimulating agents (ESAs) may play a role in treating these patients with anemia of unknown etiology (AUE). This study examines hemoglobin and cardiovascular outcomes among elderly anemic patients treated with ESAs. We conducted a retrospective cohort study that included all anemic patients older than age 60 years who had erythropoietin (EPO) measured between 2005 and 2013 at a single center. Three independent reviewers used defined criteria to assign each patient's anemia to 1 of 4 groups: chronic kidney disease (CKD), myelodysplastic syndrome, AUE, or other etiology...
August 22, 2017: Blood Advances
https://www.readbyqxmd.com/read/29225884/-setbp1-mutations-as-a-biomarker-for-myelodysplasia-myeloproliferative-neoplasm-overlap-syndrome
#14
REVIEW
Katherine Linder, Chaitanya Iragavarapu, Delong Liu
Myelodysplasia (MDS) /myeloproliferative neoplasm (MPN) overlap syndrome has been described since the 2001 WHO classification as disorders that have both proliferative and dysplastic changes simultaneously. Specific disorders include chronic myelomonocytic leukemia (CMML), juvenile myelomonocytic leukemia (JMML), BCR-ABL negative atypical chronic myeloid leukemia (aCML) and unclassifiable MDS/MPN (MPN/MDS-U). Recurrent gene mutations in these conditions have been described. Among them, SETBP1 mutations have been identified in up to 32% of aCML, 24% of JMML, 18% of CMML and 10% of MDS/MPN-U patients...
2017: Biomarker Research
https://www.readbyqxmd.com/read/29175836/two-patients-with-mirage-syndrome-lacking-haematological-features-role-of-somatic-second-site-reversion-samd9-mutations
#15
Hirohito Shima, Katrin Koehler, Yumiko Nomura, Kazuhiko Sugimoto, Akira Satoh, Tsutomu Ogata, Maki Fukami, Ramona Jühlen, Markus Schuelke, Klaus Mohnike, Angela Huebner, Satoshi Narumi
BACKGROUND: Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes and enteropathy (MIRAGE) syndrome is a recently described congenital disorder caused by heterozygous SAMD9 mutations. The phenotypic spectrum of the syndrome remains to be elucidated. METHODS AND RESULTS: We describe two unrelated patients who showed manifestations compatible with MIRAGE syndrome, with the exception of haematological features. Leucocyte genomic DNA samples were analysed with next-generation sequencing and Sanger sequencing, revealing the patients to have two de novoSAMD9 mutations on the same allele (patient 1 p...
February 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29172978/application-of-the-fda-biosimilar-extrapolation-framework-to-make-off-label-determinations
#16
Edward Li, Ernesto Lobaina
BACKGROUND: The FDA's extrapolation framework allows for a biosimilar to obtain licensure for indications that were not explicitly studied in the context of a clinical trial by extending conclusions from studies in 1 population to make inferences in other populations. Within routine clinical care, drugs and biologics are routinely used for medically accepted off-label indications. The appropriateness of these products for off-label indications are typically curated by compendia and guidelines, which have established processes and criteria for reviewing and evaluating the evidence to make such determinations...
December 2017: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/29156197/mutational-complexity-in-myelodysplasia
#17
REVIEW
R Coleman Lindsley
Myelodysplastic syndromes are characterized by genetic and clinical heterogeneity. Some mutations are able to drive clonal hematopoiesis without causing clinical consequences, while other mutations may have significant impact, including the transformation to leukemia. This review aims to describe the pathogenesis of myelodysplastic syndromes (MDS) by focusing on 3 aspects: combinatorial genetic events, environmental factors, and inherited genetic conditions.
December 2017: Best Practice & Research. Clinical Haematology
https://www.readbyqxmd.com/read/29146883/a-landscape-of-germ-line-mutations-in-a-cohort-of-inherited-bone-marrow-failure-patients
#18
Olivier Bluteau, Marie Sebert, Thierry Leblanc, Régis Peffault de Latour, Samuel Quentin, Elodie Lainey, Lucie Hernandez, Jean-Hugues Dalle, Flore Sicre de Fontbrune, Etienne Lengline, Raphael Itzykson, Emmanuelle Clappier, Nicolas Boissel, Nadia Vasquez, Mélanie Da Costa, Julien Masliah-Planchon, Wendy Cuccuini, Anna Raimbault, Louis De Jaegere, Lionel Adès, Pierre Fenaux, Sébastien Maury, Claudine Schmitt, Marc Muller, Carine Domenech, Nicolas Blin, Bénédicte Bruno, Isabelle Pellier, Mathilde Hunault, Stéphane Blanche, Arnaud Petit, Guy Leverger, Gérard Michel, Yves Bertrand, André Baruchel, Gérard Socié, Jean Soulier
Bone marrow (BM) failure (BMF) in children and young adults is often suspected to be inherited, but in many cases diagnosis remains uncertain. We studied a cohort of 179 patients (from 173 families) with BMF of suspected inherited origin but unresolved diagnosis after medical evaluation and Fanconi anemia exclusion. All patients had cytopenias, and 12.0% presented ≥5% BM blast cells. Median age at genetic evaluation was 11 years; 20.7% of patients were aged ≤2 years and 36.9% were ≥18 years. We analyzed genomic DNA from skin fibroblasts using whole-exome sequencing, and were able to assign a causal or likely causal germ line mutation in 86 patients (48...
February 15, 2018: Blood
https://www.readbyqxmd.com/read/29145678/-thrombocytosis-and-thrombocytopenia-background-and-clinical-relevance
#19
REVIEW
Kai Wille, Parvis Sadjadian, Martin Griesshammer
Due to the central role of platelets in hemostasis, the clinical relevance of quantitative changes in platelet counts (< 150 G/l or > 450 G/l) may be significant. Thrombopoesis (= production of platelets) occurs in the bone marrow, and the hormone thrombopoetin takes control on its regulation.In thrombocytosis, primary causes have to be distinguished from the far more common reactive (= secondary) reasons. The most important form of primary thrombocytosis occurs in myeloproliferative neoplasms especially in essential thrombocythemia (ET)...
November 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/29097382/gene-expression-and-risk-of-leukemic-transformation-in-myelodysplasia
#20
Yusuke Shiozawa, Luca Malcovati, Anna Gallì, Andrea Pellagatti, Mohsen Karimi, Aiko Sato-Otsubo, Yusuke Sato, Hiromichi Suzuki, Tetsuichi Yoshizato, Kenichi Yoshida, Yuichi Shiraishi, Kenichi Chiba, Hideki Makishima, Jacqueline Boultwood, Eva Hellström-Lindberg, Satoru Miyano, Mario Cazzola, Seishi Ogawa
Myelodysplastic syndromes (MDSs) are a heterogeneous group of clonal hematopoietic disorders with a highly variable prognosis. To identify a gene expression-based classification of myelodysplasia with biological and clinical relevance, we performed a comprehensive transcriptomic analysis of myeloid neoplasms with dysplasia using transcriptome sequencing. Unsupervised clustering of gene expression data of bone marrow CD34+ cells from 100 patients identified 2 subgroups. The first subtype was characterized by increased expression of genes related to erythroid/megakaryocytic (EMK) lineages, whereas the second subtype showed upregulation of genes related to immature progenitor (IMP) cells...
December 14, 2017: Blood
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