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myeloprolifeative neoplasm

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https://www.readbyqxmd.com/read/27911124/the-impact-of-interferon-alpha2-on-hla-genes-in-patients-with-polycythemia-vera-and-related-neoplasms
#1
Vibe Skov, Caroline Hasselbalch Riley, Mads Thomassen, Lasse Kjær, Thomas Stauffer Larsen, Ole Weis Bjerrum, Torben A Kruse, Hans Carl Hasselbalch
Gene expression profiling in Philadelphia-negative chronic myeloproliferative neoplasms (MPNs) have unraveled significant deregulation of several immune and inflammation genes of potential importance for clonal evolution. Other mechanisms might be downregulation of major histocompatibility class I and II genes used by tumor cells to escape antitumor T-cell-mediated immune responses. Several genes encoding human leukocyte antigen (HLA) class I and II molecules have been shown to be significantly downregulated...
December 2, 2016: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/27910028/recurrent-cytogenetic-abnormalities-in-myeloproliferative-neoplasms-and-chronic-myeloid-leukemia
#2
John Swansbury
The commonest types of myeloproliferative neoplasm (MPN) have remarkably similar recurrent chromosome abnormalities, but with varying incidence and prognostic implications. After a clear decade of treatment of chronic myeloid leukemia (CML) with tyrosine kinase inhibitors, the differing prognostic implications of abnormalities additional to the Ph chromosome are being revealed. This chapter provides a description of the main chromosome abnormalities in MPN and CML and their clinical implications in a time of rapid changes in both the application of new diagnostic techniques and the introduction of targeted therapies...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27910027/recurrent-cytogenetic-abnormalities-in-acute-myeloid-leukemia
#3
John J Yang, Tae Sung Park, Thomas S K Wan
The spectrum of chromosomal abnormality associated with leukemogenesis of acute myeloid leukemia (AML) is broad and heterogeneous when compared to chronic myeloid leukemia and other myeloid neoplasms. Recurrent chromosomal translocations such as t(8;21), t(15;17), and inv(16) are frequently detected, but hundreds of other uncommon chromosomal aberrations from AML also exist. This chapter discusses 22 chromosomal abnormalities that are common structural, numerical aberrations, and other important but infrequent (less than 1 %) translocations emphasized in the WHO classification...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27909216/molecular-determinants-of-pathogenesis-and-clinical-phenotype-in-myeloproliferative-neoplasms
#4
Jacob Grinfeld, Jyoti Nangalia, Anthony R Green
The myeloproliferative neoplasms are a heterogeneous group of clonal disorders characterised by overproduction of mature cells in the peripheral blood, together with an increased risk of thrombosis and progression to acute myeloid leukemia. The majority of patients with Philadelphia-chromosome negative myeloproliferative neoplasms harbour somatic mutations in Janus kinase 2, leading to constitutive activation. Acquired mutations in calreticulin or myeloproliferative leukemia virus oncogene are found in a significant number of patients with essential thrombocythaemia or myelofibrosis, and mutations in numerous epigenetic regulators and spliceosome components are also seen...
December 1, 2016: Haematologica
https://www.readbyqxmd.com/read/27908226/high-coincidence-of-chronic-lymphocytic-leukemia-and-myeloproliferative-neoplasms-detection-bias-or-a-clue-to-a-common-pathophysiological-path
#5
Claire van de Ree-Pellikaan, Lina van der Straten, Jurgen A Riedl, Mark-David Levin, Peter E Westerweel
No abstract text is available yet for this article.
December 2, 2016: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/27899359/how-i-treat-atypical-chronic-myeloid-leukemia
#6
Jason Gotlib
Atypical chronic myeloid leukemia, BCR-ABL1-negative (aCML) is a rare myelodysplastic syndrome/myeloproliferative neoplasm for which no current standard of care exists. The challenges of atypical CML relate to its heterogeneous clinical and genetic features, high rate of transformation to acute myeloid leukemia, and historically poor survival. Therefore, allogeneic hematopoietic stem cell transplantation should always be an initial consideration for eligible patients with a suitable donor. Non-transplant approaches for treating aCML have otherwise largely relied on adopting treatment strategies used for MDS and MPN...
November 29, 2016: Blood
https://www.readbyqxmd.com/read/27899218/modeling-myeloproliferative-neoplasms-from-mutations-to-mouse-models-and-back-again
#7
REVIEW
Alessandro Morotti, Stefania Rocca, Giovanna Carrà, Giuseppe Saglio, Mara Brancaccio
Myeloproliferative neoplasms (MPNs) are defined according to the 2008 World Health Organization (WHO) classification and the recent 2016 revision. Over the years, several genetic lesions have been associated with the development of MPNs, with important consequences for identifying unique biomarkers associated with specific neoplasms and for developing targeted therapies. Defining the genotype-phenotype relationship in MPNs is essential to identify driver somatic mutations that promote MPN development and maintenance in order to develop curative targeted therapies...
November 24, 2016: Blood Reviews
https://www.readbyqxmd.com/read/27899193/genetic-predisposition-to-leukemia-and-other-hematologic-malignancies
#8
REVIEW
Simone Feurstein, Michael W Drazer, Lucy A Godley
In this review, we provide an overview of familial myelodysplastic syndromes (MDS)/acute leukemia (AL) and bone marrow failure syndromes, as well as insights into familial myeloproliferative neoplasms (MPNs), familial multiple myeloma (MM), familial Waldenström macroglobulinemia (WM), familial lymphoma, and cancer predisposition syndromes with increased risk of MDS/AL. This field will continue to accelerate as next-generation sequencing (NGS) techniques identify novel predisposition alleles in families with a genetic predisposition to hematologic malignancies...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27895799/routine-blood-examinations-combined-with-morphological-analysis-for-the-diagnosis-of-myelodysplastic-myeloproliferative-neoplasms
#9
Huanling Wu, Hui Sun, Zhifen Zhang, Xiangli Li, Yuantang Li, Li Li, Rui Xu, Zie Wang, Wenjun Tian
In 2008, the World Health Organization (WHO) introduced a new hematological neoplasm category; myelodysplastic/myeloproliferative neoplasms (MDS/MPN), which included four main subcategories. This disease is often misdiagnosed, which delays effective therapy. The present study evaluated the role of routine blood examinations and morphological analysis of peripheral blood cells in the reliable diagnosis of MDS/MPN. In total, 236 adult MDS/MPN patients were analyzed. The analysis included 10 routine blood parameters measured using a Sysmex XE-2100™, 3 differential percentage parameters and 7 morphological features of peripheral blood cells which were analyzed by optical microscopy, and 3 differential absolute count numbers obtained based on the corresponding differential percentages and absolute count of blood cells...
November 2016: Oncology Letters
https://www.readbyqxmd.com/read/27892678/characterization-and-prognosis-significance-of-jak2-v617f-mpl-and-calr-mutations-in-philadelphia-negative-myeloproliferative-neoplasms
#10
Roongrudee Singdong, Teerapong Siriboonpiputtana, Takol Chareonsirisuthigul, Adcharee Kongruang, Nittaya Limsuwanachot, Tanasan Sirirat, Suporn Chuncharunee, Budsaba Rerkamnuaychoke
Background: The discovery of somatic acquired mutations of JAK2 (V617F) in Philadelphia-negative myeloproliferative neoplasms (Ph-negative MPNs) including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) has not only improved rational disease classification and prognostication but also brings new understanding insight into the pathogenesis of diseases. Dosage effects of the JAK2 (V617F) allelic burden in Ph-negative MPNs may partially influence clinical presentation, disease progression, and treatment outcome...
January 10, 2016: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/27884974/from-leeches-to-personalized-medicine-evolving-concepts-in-the-management-of-polycythemia-vera
#11
Alessandro Maria Vannucchi
Polycythemia vera (PV), a clonal disorders of hematopoietic stem/progenitor cells that manifests with prevalent expansion of red cell mass, is the most frequent among chronic myeloproliferative neoplasms (MPN). It is characterized by a V617F point mutation in JAK2 exon 14 , or less common mutations in exon 12, in virtually all cases. The landmark discovery of autonomously activated JAK/STAT signaling pathway paved the way for the clinical development of the first target drug, the JAK1 and JAK2 inhibitor ruxolitinib, that is now approved for patients with resistance or intolerance to hydroxyurea...
November 24, 2016: Haematologica
https://www.readbyqxmd.com/read/27884555/after-10years-of-jak2v617f-disease-biology-and-current-management-strategies-in-polycythaemia-vera
#12
REVIEW
Jacob Grinfeld, Anna L Godfrey
The JAK2V617F mutation accounts for the vast majority of patients with polycythaemia vera (PV) and around half of those with other Philadelphia-negative myeloproliferative neoplasms. Since its discovery in 2005, numerous insights have been gained into the pathways by which JAK2V617F causes myeloproliferation, including activation of JAK-STAT signalling but also through other canonical and non-canonical pathways. A variety of mechanisms explain how this one mutation can be associated with distinct clinical disorders, demonstrating how constitutional and acquired factors may interact in the presence of a single mutation to determine disease phenotype...
November 15, 2016: Blood Reviews
https://www.readbyqxmd.com/read/27882812/should-we-be-treating-lower-risk-myelofibrosis-patients-with-a-jak2-inhibitor
#13
Guido Lancman, John Mascarenhas
Myelofibrosis (MF) is a Philadelphia chromosome-negative myeloproliferative neoplasm that is associated with debilitating constitutional symptoms, progressive splenomegaly, and cytopenias. Ruxolitinib, a JAK1/2 inhibitor, is currently the only drug approved for the treatment of patients with intermediate or high risk MF. There is rationale and even limited clinical data supporting the use of ruxolitinib in lower risk patients, although this has not yet been validated in a randomized controlled trial. Areas Covered: We examine rationale for using ruxolitinib in lower risk MF patients, including survival data from COMFORT-I and COMFORT-II, specific patient populations that may derive clinical benefit, and the future impact of molecular analysis on risk stratification and treatment...
November 24, 2016: Expert Review of Hematology
https://www.readbyqxmd.com/read/27880982/safety-and-efficacy-of-ruxolitinib-in-splanchnic-vein-thrombosis-associated-with-myeloproliferative-neoplasms
#14
Lisa Pieri, Chiara Paoli, Umberto Arena, Fabio Marra, Fabio Mori, Mery Zucchini, Stefano Colagrande, Alessandro Castellani, Arianna Masciulli, Vittorio Rosti, Valerio De Stefano, Silvia Betti, Guido Finazzi, Maria Luisa Ferrari, Elisa Rumi, Marco Ruggeri, Ilaria Nichele, Paola Guglielmelli, Rajmonda Fjerza, Carmela Mannarelli, Tiziana Fanelli, Lucia Merli, Giuditta Corbizi Fattori, Margherita Massa, Giuseppe Cimino, Alessandro Rambaldi, Giovanni Barosi, Mario Cazzola, Tiziano Barbui, Alessandro M Vannucchi
Splanchnic vein thrombosis (SVT) is one of the vascular complications of myeloproliferative neoplasms (MPN). We designed a phase 2 clinical trial to evaluate safety and efficacy of ruxolitinib in reducing splenomegaly and improving disease-related symptoms in patients with MPN-associated SVT. Patients, diagnosed with myelofibrosis in 12 cases, polycythemia vera in 5 and essential thrombocythemia in 4, received ruxolitinib for 24 weeks in the core study period. Spleen volume was assessed by magnetic resonance imaging (MRI) and splanchnic vein circulation by echo-Doppler analysis...
November 23, 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/27875935/jak2-mpl-and-calr-mutations-in-chinese-han-patients-with-essential-thrombocythemia
#15
Jing Wang, Biao Zhang, Bing Chen, Rong-Fu Zhou, Qi-Guo Zhang, Juan Li, Yong-Gong Yang, Min Zhou, Xiao-Yan Shao, Yong Xu, Xi-Hui Xu, Jian Ouyang, Jingyan Xu, Qing Ye
BACKGROUND: Mutations in Janus kinase 2 (JAK2), myeloproliferative leukemia (MPL), and CALR are highly relevant to Philadelphia chromosome (Ph)-negative myeloproliferative neoplasms. METHODS: Assessing the prevalence of molecular mutations in Chinese Han patients with essential thrombocythemia (ET), and correlating their mutational profile with disease characteristics/phenotype. RESULTS: Of the 110 subjects studied, 62 carried the JAK2 V617F mutation, 21 had CALR mutations, one carried an MPL (W515) mutation, and 28 had non-mutated JAK2, CALR, and MPL (so-called triple-negative ET)...
November 22, 2016: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/27875375/management-of-venous-thromboembolism-in-myeloproliferative-neoplasms
#16
Tiziano Barbui, Valerio De Stefano
PURPOSE OF REVIEW: Venous thromboembolism is frequent in chronic myeloproliferative neoplasms (MPN). The current strategy for its management includes cytoreductive therapy and antithrombotic prophylaxis, but many issues remain uncertain. In this review, the risk factors and prevention of recurrences will be discussed. RECENT FINDINGS: Around one-third of patients with polycythemia vera and essential thrombocythemia experience a major thrombosis at diagnosis or during follow-up...
November 21, 2016: Current Opinion in Hematology
https://www.readbyqxmd.com/read/27870387/primary-myelofibrosis-2017-update-on-diagnosis-risk-stratification-and-management
#17
Ayalew Tefferi
: Disease overview: Primary myelofibrosis (PMF) is a myeloproliferative neoplasm (MPN) characterized by stem cell-derived clonal myeloproliferation that is often but not always accompanied by JAK2, CALR or MPL mutation, abnormal cytokine expression, bone marrow fibrosis, anemia, splenomegaly, extramedullary hematopoiesis (EMH), constitutional symptoms, cachexia, leukemic progression and shortened survival. DIAGNOSIS: Diagnosis is based on bone marrow morphology...
December 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/27870069/suspected-myelodysplastic-myeloproliferative-neoplasm-in-a-feline-leukemia-virus-negative-cat
#18
Amy L Weeden, Kyle R Taylor, Scott P Terrell, Alexander E Gallagher, Heather L Wamsley
A 10-year-old castrated Domestic Short-Haired cat was presented to a primary care veterinarian for a wellness examination and laboratory examination for monitoring of diabetes mellitus. The CBC revealed marked thrombocytosis, leukopenia and macrocytic, normochromic anemia. The cat tested negative for FeLV and feline immunodeficiency virus, but was positive for Mycoplasma haemominutum by PCR. Hematologic abnormalities were not responsive to therapy, so a repeat CBC and a bone marrow aspiration for cytology were performed...
November 21, 2016: Veterinary Clinical Pathology
https://www.readbyqxmd.com/read/27866579/polycythemia-and-thrombocytosis
#19
REVIEW
Aric Parnes, Arvind Ravi
Myeloproliferative neoplasms (MPNs) are diseases of excess cell proliferation from bone marrow precursors. Two classic MPNs, polycythemia vera (PV) and essential thrombocytosis (ET), are conditions of excess proliferation of red blood cells and platelets, respectively. Although PV and ET involve different cells in the myeloid lineage, their clinical presentations have shared features, consistent with overlapping mutations in growth factor signaling. The management of both diseases involves minimizing the risk of thrombotic and hemorrhagic complications...
December 2016: Primary Care
https://www.readbyqxmd.com/read/27865464/myeloproliferative-neoplasms-molecular-drivers-and-therapeutics
#20
G W Reuther
Activating mutations in genes that drive neoplastic cell growth are numerous and widespread in cancer, and specific genetic alterations are associated with certain types of cancer. For example, classic myeloproliferative neoplasms (MPNs) are hematopoietic stem cell disorders that affect cells of the myeloid lineage, including erythrocytes, platelets, and granulocytes. An activating mutation in the JAK2 tyrosine kinase is prevalent in these diseases. In MPN patients that lack such a mutation, other genetic changes that lead to activation of the JAK2 signaling pathway are present, indicating deregulation of JAK2 signaling plays an etiological driving role in MPNs, a concept supported by significant evidence from in vivo experimental MPN systems...
2016: Progress in Molecular Biology and Translational Science
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