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Myeloid neoplasm

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https://www.readbyqxmd.com/read/29668469/moleculary-confirmed-cytogenetic-remission-in-a-case-with-myelodysplastic-syndrome-treated-with-azacitidne
#1
Irina Panovska-Stavridis, Martin Ivanovski, Sanja Trajkova, Aleksandra Pivkova-Veljanovska, Marija Popova-Labaceska, Nadica Matevska-Geshovska, Predrag Noveski, Dijana Plaseska-Karanfilska, Lidija Cevreska, Aleksandar J Dimovski
Myelodysplastic syndrome (MDS) is a diverse group of clonal hematologic neoplasms. The only curative treatment for MDS is allogeneic stem cell transplantation (SCT). Epigenetic changes play an important role in the pathogenesis of MDS and treatment with DNA methyl transferase inhibitors, Azacitidine, significantly prolong the survival of high-risk MDS patients. Here we report a case of a 58-year-old male presented with pancytopenia, macrocytosis, and hyperplastic bone marrow with 3-lineage dysplasia with ~14% of myeloid blasts...
December 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/29666007/mutation-analysis-of-therapy-related-myeloid-neoplasms
#2
Takahiro Nishiyama, Yuichi Ishikawa, Naomi Kawashima, Akimi Akashi, Yoshiya Adachi, Hikaru Hattori, Yoko Ushijima, Hitoshi Kiyoi
We analyzed the genetic mutation status of 13 patients with therapy-related myeloid neoplasms (t-MN). Consistent with previous reports, t-MN cells preferentially acquired mutations in TP53 and epigenetic modifying genes, instead of mutations in tyrosine kinase and spliceosome genes. Furthermore, we compared the mutation status of three t-MN cells with each of the initial lymphoid malignant cells, and identified common mutations among t-MN and the initial malignant cells in two patients. In a patient who developed chronic myelomonocytic leukemia (CMML) after follicular lymphoma (FL), TET2 mutation was identified in both CMML and FL cells...
April 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29666006/deletion-of-runx1-exons-1-and-2-associated-with-familial-platelet-disorder-with-propensity-to-acute-myeloid-leukemia
#3
Marcela Cavalcante de Andrade Silva, Ana Cristina Victorino Krepischi, Leslie Domenici Kulikowski, Evelin Aline Zanardo, Luciana Nardinelli, Aline Medeiros Leal, Silvia Souza Costa, Nair Hideki Muto, Vanderson Rocha, Elvira Deolinda Rodrigues Pereira Velloso
Familial platelet disorder with propensity to acute myeloid leukemia (FPD/AML) associated with RUNX1 mutations is an autosomal dominant disorder included in the group of the myeloid neoplasms with germ line predisposition. We describe two brothers who were diagnosed with hematological malignancies (one with AML and the other with T-cell lymphoblastic lymphoma). There was a history of leukemia in the paternal family and two of their siblings presented with low platelet counts and no history of significant bleeding...
April 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29665937/-current-understanding-of-myeloproliferative-neoplasm-related-gene-mutations-and-cytokine-review
#4
Zhi-Peng He, Yong Wu
Myeloproliferative neoplasm(MPN) is clonal hematopoietic stem cell disorder characterized by abnormal proliferation and expansion of one or more myeloid lineages. BCR-ABL-negative MPN includes polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). The mutations of JAK2, CALR and MPL genes are involved in the pathogenesis of MPN that provided a more complete molecular diagnostic standard for MPN. More and more new mutated genes related to prognosis of MPN were discovered in the past few years, at same time it was found that cytokines were also involved in the genesis and development of MPN...
April 2018: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/29664232/correlation-of-tet2-snp-rs2454206-with-improved-survival-in-children-with-acute-myeloid-leukemia-featuring-intermediate-risk-cytogenetics
#5
Xingjuan Wang, Xi Chen, Zhenzhen Yang, Hu Dou, Ling Lu, Junqin Bi, Lin Zou, Jie Yu, Liming Bao
Single nucleotide polymorphisms (SNPs) may influence the disease course and outcome of hematologic neoplasms. SNP rs2454206 is common in the TET2 gene, which plays a role in epigenetic regulation of myelopoiesis. Few investigations examined the role of TET2 SNP rs2454206 in acute myeloid leukemia (AML) and none of those studies was performed in Chinese populations. Here, we report the prevalence and clinical relevance of TET2 SNP rs2454206 in 254 Chinese patients with childhood AML. Our data demonstrate that TET2 SNP rs2454206AG/GG is associated with improved overall survival and event-free survival in AML patients with intermediate-risk cytogenetics features...
April 17, 2018: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/29660158/cutaneous-presentation-preceding-acute-myeloid-leukemic-with-cd4-cd56-expression-misdiagnosed-as-a-blastic-plasmocytoid-dendritic-cell-neoplasm-a-case-report
#6
Vanessa Szablewski, Valérie Costes, Caroline Bret, Olivier Dereure, Hicheri Yosr, Melissa Alame, Valère Cacheux
Acute myeloid leukemia (AML) may initially present as cutaneous lesions corresponding to blasts involving the skin as the first clinical manifestation prior to blood and bone marrow (BM) infiltration. Such presentation is known as myeloid leukemia cutis (LC). Blastic plasmocytoid dendritic cell neoplasm (BPDCN) is an aggressive tumour derived from the precursors of plasmocytoid dendritic cells with cutaneous and bone marrow (BM) involvement and leukemic dissemination. Myeloid LC and BPDCN may be difficult to distinguish as they share similar clinical and histopathological features, in particular AML with monocytic differentiation...
April 16, 2018: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/29656215/inter-observer-variance-and-the-need-for-standardization-in-the-morphological-classification-of-myelodysplastic-syndrome
#7
Keiko Sasada, Noriko Yamamoto, Hiroki Masuda, Yoko Tanaka, Ayako Ishihara, Yasushi Takamatsu, Yutaka Yatomi, Waichiro Katsuda, Issei Sato, Hirotaka Matsui
In this era of genome medicine, the sub-classification of myeloid neoplasms, including myelodysplastic syndrome (MDS), is now supported by genetic testing in selected cases. However, as the initial suspicion and primary diagnosis of the disease still largely relies on morphological features and numbers of hematopoietic cells, the establishment of a uniform diagnostic basis, especially for cell morphology, is essential. In this study, we collected nearly 100,000 hematopoietic cell images from 499 peripheral blood smear specimens from patients with MDS and used these to evaluate the standardization of morphological classification by medical technologists...
April 9, 2018: Leukemia Research
https://www.readbyqxmd.com/read/29651965/antitumor-effect-of-pomolic-acid-in-acute-myeloid-leukemia-cells-involves-cell-death-decreased-cell-growth-and-topoisomerases-inhibition
#8
Raquel Ciuvalschi Maia, Michelle X G Pereira, Amanda S O Hammes, Flavia C Vasconcelos, Aline R Pozzo, Thais Hancio Pereira, Ernesto R Caffarena, Cerli R Gattass
BACKGROUND: Acute myeloid leukemia (AML) represent the largest number of annual deaths from hematologic malignancy. In the United-States, it is estimated that 21.380 individuals will be diagnosed with AML and 49.5% of patients will die in 2017. Therefore, the searching for novel compounds capable of increasing the overall survival rate to the treatment of AML cells is urgent. OBJECTIVES: To investigate the cytotoxicity effect of the natural compound PA and to explore the mechanism of action of PA in AML cell lines with different phenotypes...
April 12, 2018: Anti-cancer Agents in Medicinal Chemistry
https://www.readbyqxmd.com/read/29643232/increased-neutrophil-extracellular-trap-formation-promotes-thrombosis-in-myeloproliferative-neoplasms
#9
Ofir Wolach, Rob S Sellar, Kimberly Martinod, Deya Cherpokova, Marie McConkey, Ryan J Chappell, Alexander J Silver, Dylan Adams, Cecilia A Castellano, Rebekka K Schneider, Robert F Padera, Daniel J DeAngelo, Martha Wadleigh, David P Steensma, Ilene Galinsky, Richard M Stone, Giulio Genovese, Steven A McCarroll, Bozenna Iliadou, Christina Hultman, Donna Neuberg, Ann Mullally, Denisa D Wagner, Benjamin L Ebert
Thrombosis is a major cause of morbidity and mortality in Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs), clonal disorders of hematopoiesis characterized by activated Janus kinase (JAK)-signal transducer and activator of transcription (STAT) signaling. Neutrophil extracellular trap (NET) formation, a component of innate immunity, has been linked to thrombosis. We demonstrate that neutrophils from patients with MPNs are primed for NET formation, an effect blunted by pharmacological inhibition of JAK signaling...
April 11, 2018: Science Translational Medicine
https://www.readbyqxmd.com/read/29629950/a-survey-of-somatic-mutations-in-41-genes-in-a-cohort-of-t-cell-lymphomas-identifies-frequent-mutations-in-genes-involved-in-epigenetic-modification
#10
Sebastian Fernandez-Pol, Lisa Ma, Rohan P Joshi, Daniel A Arber
Here, we utilize a high throughput sequencing panel that covers several genes known to be recurrently mutated in certain T-cell lymphoma subtypes as well as genes frequently mutated in other hematolymphoid malignancies, including myeloid neoplasms. This panel was applied to formalin-fixed, paraffin-embedded tissue from 84 biopsies from 78 patients selected for this study. The biopsies included ones a with a diagnosis of T-cell lymphoma (n=79), including peripheral T-cell lymphoma not otherwise specified (PTCL-NOS; n=26) and angioimmunoblastic T-cell lymphoma (AITL; n=13), as well as 5 cases of atypical T-cell proliferations...
April 7, 2018: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/29624895/clonal-cytogenetic-abnormalities-of-undetermined-significance
#11
REVIEW
G Tang, L J Medeiros, S A Wang
Myelodysplastic syndromes are a group of hematopoietic stem cell diseases characterized by cytopenia(s), morphological dysplasia, and clonal hematopoiesis. In some patients, the cause of cytopenia(s) is uncertain, even after thorough clinical and laboratory evaluation. Evidence of clonal hematopoiesis has been used to support a diagnosis of myelodysplastic syndrome in this setting. In patients with cytopenia(s), the presence of clonal cytogenetic abnormalities, except for +8, del(20q) and -Y, can serve as presumptive evidence of myelodysplastic syndrome...
April 6, 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29622860/laboratory-monitoring-of-chronic-myeloid-leukemia-in-patients-on-tyrosine-kinase-inhibitors
#12
REVIEW
Richa Chauhan, Sudha Sazawal, H P Pati
Chronic Myeloid Leukemia (CML) is a myeloproliferative neoplasm characterized by translocation of genetic material from chromosome 9 to chromosome 22 to form a fusion gene (BCR-ABL1) that is responsible for abnormal tyrosine kinase activity and alteration of various downstream signaling pathways. In addition to morphological diagnosis of CML phase, it is essential to detect BCR-ABL1 fusion by either metaphase cytogenetics or reverse transcriptase polymerase chain reaction that also determines type of mRNA transcript...
April 2018: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/29616864/a-phase-1-study-of-dasatinib-plus-all-trans-retinoic-acid-in-acute-myeloid-leukemia
#13
Robert L Redner, Jan H Beumer, Patricia Kropf, Mounzer Agha, Michael Boyiadzis, Kathleen Dorritie, Rafic Farah, Jing-Zhao Hou, Annie Im, Seah H Lim, Anastasios Raptis, Alison Sehgal, Susan M Christner, Daniel Normolle, Daniel E Johnson
Src family kinases (SFKs) are hyperactivated in acute myeloid leukemia (AML). SFKs impede the retinoic acid receptor, and SFK inhibitors enhance all-trans retinoic acid (ATRA)-mediated cellular differentiation in AML cell lines and primary blasts. To translate these findings into the clinic, we undertook a phase-I dose-escalation study of the combination of the SFK inhibitor dasatinib and ATRA in patients with high-risk myeloid neoplasms. Nine subjects were enrolled: six received 70 mg dasatinib plus 45 mg/m2 ATRA daily, and three received 100 mg dasatinib plus 45 mg/m2 ATRA daily for 28 days...
April 4, 2018: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/29616317/outcomes-of-patients-with-myelofibrosis-treated-with-compassionate-use-pacritinib-a-sponsor-independent-international-study
#14
J Mascarenhas, E Virtgaym, M Stal, H Blacklock, A T Gerds, R Mesa, P Ganly, D Snyder, I Tabbara, D Tremblay, E Moshier
Myelofibrosis (MF) is a chronic yet progressive myeloid neoplasm in which only a minority of patients undergo curative therapy, hematopoietic stem cell transplantation. Ruxolitinib, a JAK1/2 inhibitor, is the lone therapy approved for MF, offering a clear symptom and spleen benefit at the expense of treatment-related cytopenias. Pacritinib (PAC), a multi-kinase inhibitor with specificity for JAK2, FLT3, and IRAK1 but sparing JAK1, has demonstrated clinical activity in MF with minimal myelosuppression. Due to an FDA-mandated full clinical hold, the randomized phase 3 PERSIST trials were abruptly stopped and PAC was immediately discontinued for all patients...
April 3, 2018: Annals of Hematology
https://www.readbyqxmd.com/read/29592892/gene-dosage-effect-of-cux1-in-a-murine-model-disrupts-hsc-homeostasis-and-controls-the-severity-and-mortality-of-mds
#15
Ningfei An, Saira Khan, Molly K Imgruet, Sandeep K Gurbuxani, Stephanie N Konecki, Michael R Burgess, Megan E McNerney
Monosomy 7 (-7) and del(7q) are high-risk cytogenetic abnormalities common in myeloid malignancies. We previously reported that CUX1 , a homeodomain-containing transcription factor encoded on 7q22, is frequently inactivated in myeloid neoplasms, and CUX1 myeloid tumor suppressor activity is conserved from humans to Drosophila CUX1 inactivating mutations are recurrent in clonal hematopoiesis of indeterminate potential (CHIP) as well as myeloid malignancies, in which they independently carry a poor prognosis...
March 28, 2018: Blood
https://www.readbyqxmd.com/read/29587671/coexisting-of-bone-marrow-fibrosis-dysplasia-and-an-x-chromosomal-abnormality-in-chronic-neutrophilic-leukemia-with-csf3r-mutation-a-case-report-and-literature-review
#16
Xue Bin Wu, Wei Wei Wu, Yue Zhou, Xuan Wang, Jia Li, Yang Yu
BACKGROUND: Chronic neutrophilic leukemia (CNL) is a rare myeloproliferative neoplasm (MPN) with less than 40 cases of patients being reported or clinically suspected meeting with 2008 World Health Organization ("WHO") diagnostic criteria. The current diagnosis of CNL remains to exclude other diseases. Recently, a new biomarker of CSF3R mutations that is almost invariably present in CNL has been identified. There is no effective treatment for CNL, therefore prognosis of the disease is poor, but it may be attributed to the presence of both SETBP1 and CSF3R gene mutations...
March 27, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29575945/current-approaches-to-challenging-scenarios-in-myeloproliferative-neoplasms
#17
Eran Zimran, Ronald Hoffman, Marina Kremyanskaya
The Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) including polycythemia vera, essential thrombocythemia and primary myelofibrosis are clonal hematological malignancies that originate at the level of the hematopoietic stem cell, and are characterized by excessive proliferation of cells belonging to one or more of the myeloid lineages. Central to the pathogenesis of the MPNs is constitutive activation of the JAK/STAT signaling pathway due to a family of driver mutations affecting JAK2, CALR or MPL...
March 29, 2018: Expert Review of Anticancer Therapy
https://www.readbyqxmd.com/read/29567885/applicability-of-2008-world-health-organization-classification-system-of-hematolymphoid-neoplasms-learning-experiences
#18
Sushil Modkharkar, Pooja Navale, Pratibha Kadam Amare, Anuradha Chougule, Nikhil Patkar, Prashant Tembhare, Hari Menon, Manju Sengar, Navin Khattry, Shripad Banavali, Brijesh Arora, Gaurav Narula, Siddhartha Laskar, Nehal Khanna, Mary Ann Muckaden, Venkatesh Rangarajan, Archi Agrawal, Tanuja Shet, Sridhar Epari, P G Subramanian, Sumeet Gujral
Background: 2008 World Health Organization (WHO) classification of hematolymphoid neoplasms (HLN) has classified them based on morphology, results of various ancillary techniques, and clinical features.[1] There are no studies looking at the applicability of WHO classification. Aims: The aim of the study was to calculate proportions of all HLN subtypes seen during 1-year period based on 2008 WHO classification of HLN and study applicability and also shortcomings of practices in a tertiary care center in India...
January 2018: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/29567772/molecular-genetic-characterization-of-myeloid-lymphoid-neoplasms-associated-with-eosinophilia-and-rearrangement-of-pdgfra-pdgfrb-fgfr1-or-pcm1-jak2
#19
Constance Baer, Verena Muehlbacher, Wolfgang Kern, Claudia Haferlach, Torsten Haferlach
No abstract text is available yet for this article.
March 22, 2018: Haematologica
https://www.readbyqxmd.com/read/29567676/cancer-associated-rs6983267-snp-and-its-accompanying-long-noncoding-rna-ccat2-induce-myeloid-malignancies-via-unique-snp-specific-rna-mutations
#20
Maitri Y Shah, Manuela Ferracin, Valentina Pileczki, Baoqing Chen, Roxana Redis, Linda Fabris, Xinna Zhang, Cristina Ivan, Masayoshi Shimizu, Cristian Rodriguez-Aguayo, Mihnea Dragomir, Katrien Van Roosbroeck, Maria Ines Almeida, Maria Ciccone, Daniela Nedelcu, Maria Angelica Cortez, Taghi Manshouri, Steliana Calin, Muharrem Muftuoglu, Pinaki P Banerjee, Mustafa H Badiwi, Jan Parker-Thornburg, Asha Multani, James William Welsh, Marcos Roberto Estecio, Hui Ling, Ciprian Tomuleasa, Delia Dima, Hui Yang, Hector Alvarez, M James You, Milan Radovich, Elizabeth Shpall, Muller Fabbri, Katy Rezvani, Leonard Girnita, Ioana Berindan-Neagoe, Anirban Maitra, Srdan Verstovsek, Riccardo Fodde, Carlos Bueso-Ramos, Mihai Gagea, Guillermo Garcia Manero, George A Calin
The cancer-risk-associated rs6983267 single nucleotide polymorphism (SNP) and the accompanying long noncoding RNA CCAT2 in the highly amplified 8q24.21 region have been implicated in cancer predisposition, although causality has not been established. Here, using allele-specific CCAT2 transgenic mice, we demonstrate that CCAT2 overexpression leads to spontaneous myeloid malignancies. We further identified that CCAT2 is overexpressed in bone marrow and peripheral blood of myelodysplastic/myeloproliferative neoplasms (MDS/MPN) patients...
March 22, 2018: Genome Research
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