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Myelodysplasia

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https://www.readbyqxmd.com/read/29225884/setbp1-mutations-as-a-biomarker-for-myelodysplasia-myeloproliferative-neoplasm-overlap-syndrome
#1
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/29212978/-acute-myeloid-leukemia-complicated-by-pneumonia-and-vertebral-osteomyelitis-during-induction-chemotherapy
#2
Yuki Kamata, Yuki Fujiwara, Kentaro Mizuhara, Naoya Mochizuki, Shiro Kubonishi, Yasushi Hiramatsu
A 76-year-old woman was operated on for rectal cancer in 2011 without chemotherapy and was followed up in the outpatient department. Decrease in white blood cell count was observed from 2013, and she developed anemia in 2015. Bone marrow aspiration was performed, and she was diagnosed with acute myeloid leukemia with myelodysplasia-related changes (AML/MRC). First, remission induction therapy was initiated with idarubicin and cytarabine administration, but pneumonia and vertebral osteomyelitis developed during the neutropenic period...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/29196412/a-phase-1-trial-of-vadastuximab-talirine-as-monotherapy-in-patients-with-cd33-positive-acute-myeloid-leukemia-aml
#3
Eytan M Stein, Roland B Walter, Harry P Erba, Amir T Fathi, Anjali S Advani, Jeffrey E Lancet, Farhad Ravandi, Tibor Kovacsovics, Daniel J DeAngelo, Dale Bixby, Stefan Faderl, Anand P Jillella, Phoenix Ho, Megan M O'Meara, Baiteng Zhao, Charles Biddle-Snead, Anthony S Stein
Vadastuximab talirine (SGN-CD33A, 33A) is an antibody-drug conjugate consisting of pyrrolobenzodiazepine dimers linked to a monoclonal antibody targeting CD33, which is expressed in the majority of acute myeloid leukemia (AML) patients. This phase 1 study (clinicaltrials.gov NCT01902329) evaluated the safety, pharmacokinetics, and preliminary activity of vadastuximab talirine and determined the recommended monotherapy dose in patients with relapsed or refractory AML. Additional expansion cohorts tested vadastuximab talirine in specific subpopulations of relapsed AML, and in a cohort of older, treatment-naïve patients...
December 1, 2017: Blood
https://www.readbyqxmd.com/read/29192651/myeloid-neoplasms-with-features-intermediate-between-primary-myelofibrosis-and-chronic-myelomonocytic-leukemia
#4
Jennifer Chapman, Julia T Geyer, Mahsa Khanlari, Adrienne Moul, Carmen Casas, Scot T Connor, Yao-Shan Fan, Justin M Watts, Ronan T Swords, Francisco Vega, Attilio Orazi
Monocytosis can develop during disease course in primary myelofibrosis simulating that seen in chronic myelomonocytic leukemia, and should not lead to disease reclassification. In contrast, at presentation, rare cases have clinical, morphologic, and molecular genetic features truly intermediate between primary myelofibrosis and chronic myelomonocytic leukemia. The taxonomy and natural history of these diseases are unclear. We identified cases which either: (1) fulfilled the 2008 World Health Organization criteria for primary myelofibrosis but had absolute monocytosis and, when available, chronic myelomonocytic leukemia-related mutations (ASXL1, SRSF2, TET2) or (2) fulfilled criteria of chronic myelomonocytic leukemia but had megakaryocytic proliferation and atypia, marrow fibrosis, and myeloproliferative-type driver mutations (JAK2, MPL, CALR)...
December 1, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29175836/two-patients-with-mirage-syndrome-lacking-haematological-features-role-of-somatic-second-site-reversion-samd9-mutations
#5
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...
November 24, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29172978/application-of-the-fda-biosimilar-extrapolation-framework-to-make-off-label-determinations
#6
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
#7
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-germline-mutations-in-a-cohort-of-inherited-bone-marrow-failure-patients
#8
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, Naddia 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 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% bone marrow 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 germline mutation in 86 patients (48...
November 16, 2017: Blood
https://www.readbyqxmd.com/read/29145678/-thrombocytosis-and-thrombocytopenia-background-and-clinical-relevance
#9
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/29099495/a-novel-genetic-and-morphologic-phenotype-of-arid2-mediated-myelodysplasia
#10
H Sakai, N Hosono, H Nakazawa, B Przychodzen, C Polprasert, H E Carraway, M A Sekeres, T Radivoyevitch, K Yoshida, M Sanada, T Yoshizato, K Kataoka, M M Nakagawa, H Ueno, Y Nannya, A Kon, Y Shiozawa, J Takeda, Y Shiraishi, K Chiba, S Miyano, J Singh, R A Padgett, S Ogawa, J P Maciejewski, H Makishima
Leukemia accepted article preview online, 03 November 2017. doi:10.1038/leu.2017.319.
November 3, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/29097382/gene-expression-and-risk-of-leukemic-transformation-in-myelodysplasia
#11
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 (MDS) 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 two subgroups. The first subtype was characterized by increased expression of genes related to erythroid/megakaryocytic (EMK) lineages, whereas the second subtype showed up-regulation of genes related to immature progenitor (IMP) cells...
November 2, 2017: Blood
https://www.readbyqxmd.com/read/29094350/transplant-results-in-adults-with-fanconi-anaemia
#12
Marc Bierings, Carmem Bonfim, Regis Peffault De Latour, Mahmoud Aljurf, Parinda A Mehta, Cora Knol, Farid Boulad, Abdelghani Tbakhi, Albert Esquirol, Grant McQuaker, Gulsan A Sucak, Tarek B Othman, Constantijn J M Halkes, Ben Carpenter, Dietger Niederwieser, Marco Zecca, Nicolaus Kröger, Mauricette Michallet, Antonio M Risitano, Gerhard Ehninger, Raphael Porcher, Carlo Dufour
The outcomes of adult patients transplanted for Fanconi anaemia (FA) have not been well described. We retrospectively analysed 199 adult patients with FA transplanted between 1991 and 2014. Patients were a median of 16 years of age when diagnosed with FA, and underwent transplantation at a median age of 23 years. Time between diagnosis and transplant was shortest (median 2 years) in those patients who had a human leucocyte antigen identical sibling donor. Fifty four percent of patients had bone marrow (BM) failure at transplantation and 46% had clonal disease (34% myelodysplasia, 12% acute leukaemia)...
November 2, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/29093395/near-tetraploidy-acute-myeloid-leukemia-in-long-term-remission-with-persistent-clonal-hematopoiesis-with-del-20-q12q13
#13
Tohru Takahashi, Kazuya Ishiguro, Yumiko Maruyama, Tomoe Kazama, Takenori Takamura, Hideto Itoh, Mitsuru Yoshimoto, Masayuki Tsujisaki, Go Ohba
Patients with near tetraploidy/tetraploidy (NT/T)-acute myeloid leukemia (AML) are rare and generally show poor survival. A 62-year-old man was referred to our hospital with pancytopenia. A bone marrow examination revealed the proliferation of extremely large blasts, and led to the diagnosis of AML M0. A cytogenetic analysis showed an NT-karyotype of 91, XXYY, -5, add(18)(p21),del(20)(q12q13) ×2. Complete remission was achieved with single remission induction chemotherapy. Although consolidation chemotherapies were not available because of his critical condition, he remained in remission and survived for more than 40 months without cytopenia...
November 1, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29081477/hydromyelia-in-a-japanese-black-calf
#14
Konosuke Otomaru, Keisuke Ono, Kenta Wataya, Kohei Akioka, Takaaki Ando, Akira Yabuki, Chikara Kubota, Noriaki Miyoshi, Yasuaki Kawasaki
A Japanese Black calf, manifested by clinical signs of inability to stand and extending hind limbs after birth, was investigated clinically and pathologically. In the neurological inspection, gastrocnemius reflex and patellar tendon reflex of the right hind limb were hyperactive, and gastrocnemius reflex and crossed extension reflex of the left hind limb were also hyperactive. Magnetic resonance imaging (MRI) examination showed a cavity in the cord at the area of the third and fourth lumbar vertebrae in T2-weighted imaging...
October 30, 2017: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/29079596/erythropoietin-inhibits-osteoblast-function-in-myelodysplastic-syndromes-via-the-canonical-wnt-pathway
#15
Ekaterina Balaian, Manja Wobus, Heike Weidner, Ulrike Baschant, Maik Stiehler, Gerhard Ehninger, Martin Bornhäuser, Lorenz C Hofbauer, Martina Rauner, Uwe Platzbecker
The effects of erythropoietin on osteoblasts and bone formation are controversially discussed. Since patients with myelodysplastic syndromes often display excessively high erythropoietin level, we aimed to analyze the effect of erythropoietin on osteoblast function in myelodysplastic syndromes and define the role of Wnt signaling in this process. Expression of osteoblast-specific genes and subsequent osteoblasts mineralization was increased in mesenchymal stromal cells from healthy young donors by in vitro erythropoietin treatment...
October 27, 2017: Haematologica
https://www.readbyqxmd.com/read/29076145/durable-graft-versus-leukaemia-effects-without-donor-lymphocyte-infusions-results-of-a-phase-ii-study-of-sequential-t-replete-allogeneic-transplantation-for-high-risk-acute-myeloid-leukaemia-and-myelodysplasia
#16
Jeff K Davies, Sandra Hassan, Shah-Jalal Sarker, Caroline Besley, Heather Oakervee, Matthew Smith, David Taussig, John G Gribben, Jamie D Cavenagh
Allogeneic haematopoietic stem-cell transplantation remains the only curative treatment for relapsed/refractory acute myeloid leukaemia (AML) and high-risk myelodysplasia but has previously been limited to patients who achieve remission before transplant. New sequential approaches employing T-cell depleted transplantation directly after chemotherapy show promise but are burdened by viral infection and require donor lymphocyte infusions (DLI) to augment donor chimerism and graft-versus-leukaemia effects. T-replete transplantation in sequential approaches could reduce both viral infection and DLI usage...
October 26, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/29051180/midostaurin-enasidenib-cpx-351-gemtuzumab-ozogomycin-and-venetoclax-bring-new-hope-to-aml
#17
Andrew H Wei, Ing S Tiong
In 2017, four new drugs have so far received FDA marketing approval for the treatment of acute myeloid leukemia (AML), including targeted therapies for mutant FLT3 (midostaurin) and IDH2 (enasidenib), a novel liposomal cytarabine-daunorubicin formulation (CPX-351) for therapy-related AML and AML with myelodysplasia-related changes and finally, resurgence of an antibody-drug conjugate designed to target CD33 (gemtuzumab ozogomycin; GO). Promising results also emerged for the BCL-2 inhibitor venetoclax combined with low-intensity therapy in older patients with AML unfit for intensive chemotherapy...
October 19, 2017: Blood
https://www.readbyqxmd.com/read/29046759/copper-deficiency-a-new-triad-anemia-leucopenia-and-myeloneuropathy
#18
Shoaib M Wazir, Ibrahim Ghobrial
Clinical copper deficiency is now more frequently recognized. Hematologically, it can present as anemia (microcytic, normocytic, or macrocytic) and neutropenia. Thrombocytopenia is relatively rare. Neurologically, it can manifest as myelopathy and peripheral neuropathy simulating subacute combined degeneration. Bone marrow findings can mimic myelodysplasia resulting in occasional inappropriate referral for bone marrow transplantation. Other conditions with similar presentations include infections, drug toxicity, autoimmunity, B12 deficiency, folate deficiency, myelodysplastic syndrome, aplastic anemia, and lymphoma with bone marrow involvement...
October 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/29033451/dasatinib-and-azacitidine-followed-by-haploidentical-stem-cell-transplant-for-chronic-myeloid-leukemia-with-evolving-myelodysplasia-a-case-report-and-review-of-treatment-options
#19
Fabian Lang, Lydia Wunderle, Heike Pfeifer, Susanne Schnittger, Gesine Bug, Oliver G Ottmann
BACKGROUND CML presenting with a variant Philadelphia translocation, atypical BCR-ABL transcript, additional chromosomal aberrations, and evolving MDS is uncommon and therapeutically challenging. The prognostic significance of these genetic findings is uncertain, even as singular aberrations, with nearly no data on management and outcome when they coexist. MDS evolving during the course of CML may be either treatment-associated or an independently coexisting disease, and is generally considered to have an inferior prognosis...
October 16, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/29025719/aml-with-myelodysplasia-related-changes-masquerades-as-acute-panmyelosis-with-myelofibrosis
#20
Zhaodong Xu
No abstract text is available yet for this article.
October 12, 2017: Blood
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