Relevant bibliographies by topics / Myeloproliferative syndrome

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  1. Journal articles
  2. Dissertations / Theses
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  4. Book chapters
  5. Conference papers

Academic literature on the topic 'Myeloproliferative syndrome'

Author: Grafiati
Published: 4 June 2021
Last updated: 17 February 2022

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Journal articles on the topic "Myeloproliferative syndrome"

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Binder and Fehr. "Myeloproliferative Syndrome." Therapeutische Umschau 61, no. 2 (February 1, 2004): 131–42. http://dx.doi.org/10.1024/0040-5930.61.2.131.

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Myeloproliferative Syndrome sind hämatopoietische Stammzellerkrankungen, die zur autonomen Proliferation einer oder mehrer Blutzellreihen führen. Sie werden wegen gemeinsamer klinischer und hämatologischer Merkmale, ihrer klonalen Hämatopoiese und der genetischen Instabilität mit unterschiedlicher Transformationstendenz in eine akute Leukämie als Gruppe verwandter hämatopoietischer Neoplasien zusammengefasst. In der vorliegenden Übersicht werden relevante Aspekte der klinischen Präsentation und Prognose, sowie aktuelle diagnostische und therapeutische Maßnahmen der Polycythaemia vera, Essentiellen Thrombozythämie und Chronisch Idiopathischen Myelofibrose diskutiert.
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Morgan, R., F. Hecht, ML Cleary, J. Sklar, and MP Link. "Leukemia with Down's syndrome: translocation between chromosomes 1 and 19 in acute myelomonocytic leukemia following transient congenital myeloproliferative syndrome." Blood 66, no. 6 (December 1, 1985): 1466–68. http://dx.doi.org/10.1182/blood.v66.6.1466.1466.

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Abstract A girl with Down's syndrome was born with a myeloproliferative disorder. The child had spontaneous regression of the myeloproliferation, with acute leukemia developing at a later date. Morphologic, cytochemical, immunologic, and immunoglobulin gene configuration studies all supported the diagnosis of acute nonlymphocytic leukemia. High-resolution chromosome studies revealed that the leukemic cells consistently contained a translocation between chromosomes 1 and 19: der(19)t(1;19)(q25;p13). Spontaneous regression of the transient myeloproliferative syndrome of the newborn with Down's syndrome may not always be permanent, and the transient myeloproliferative syndrome may sometimes represent an early sign of acute nonlymphocytic leukemia.
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Morgan, R., F. Hecht, ML Cleary, J. Sklar, and MP Link. "Leukemia with Down's syndrome: translocation between chromosomes 1 and 19 in acute myelomonocytic leukemia following transient congenital myeloproliferative syndrome." Blood 66, no. 6 (December 1, 1985): 1466–68. http://dx.doi.org/10.1182/blood.v66.6.1466.bloodjournal6661466.

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A girl with Down's syndrome was born with a myeloproliferative disorder. The child had spontaneous regression of the myeloproliferation, with acute leukemia developing at a later date. Morphologic, cytochemical, immunologic, and immunoglobulin gene configuration studies all supported the diagnosis of acute nonlymphocytic leukemia. High-resolution chromosome studies revealed that the leukemic cells consistently contained a translocation between chromosomes 1 and 19: der(19)t(1;19)(q25;p13). Spontaneous regression of the transient myeloproliferative syndrome of the newborn with Down's syndrome may not always be permanent, and the transient myeloproliferative syndrome may sometimes represent an early sign of acute nonlymphocytic leukemia.
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Ofstad, J. "The Myeloproliferative Syndrome." Acta Medica Scandinavica 167, no. 1 (April 24, 2009): 29–36. http://dx.doi.org/10.1111/j.0954-6820.1960.tb03512.x.

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Pierce, Rosalie G., and Maj Michael Oswald. "FAMILIAL MYELOPROLIFERATIVE SYNDROME." Southern Medical Journal 92, Supplement (November 1999): S56. http://dx.doi.org/10.1097/00007611-199911001-00122.

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Pérez-Encinas, M., J. L. Bello, S. Pérez-Crespo, R. De Miguel, and S. Tome. "Familial myeloproliferative syndrome." American Journal of Hematology 46, no. 3 (July 1994): 225–29. http://dx.doi.org/10.1002/ajh.2830460312.

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Sarah, OJohn-Olabode, AOyekunle Anthony, AAdeyemo Titilope, and SAkanmu Alani. "The 8p12 myeloproliferative syndrome." Nigerian Medical Journal 55, no. 2 (2014): 176. http://dx.doi.org/10.4103/0300-1652.129669.

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Schofield, Jill R., and William A. Robinson. "A new myeloproliferative syndrome." American Journal of Hematology 48, no. 3 (March 1995): 186–91. http://dx.doi.org/10.1002/ajh.2830480309.

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Mulhim, Ibrahim AI. "Down’s syndrome with transient myeloproliferative syndrome." Indian Journal of Pediatrics 57, no. 2 (March 1990): 253–55. http://dx.doi.org/10.1007/bf02722097.

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Patnaik, Mrinal M., and Terra L. Lasho. "Genomics of myelodysplastic syndrome/myeloproliferative neoplasm overlap syndromes." Hematology 2020, no. 1 (December 4, 2020): 450–59. http://dx.doi.org/10.1182/hematology.2020000130.

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Abstract Myelodysplastic syndrome (MDS)/myeloproliferative neoplasm (MPN) overlap syndromes are uniquely classified neoplasms occurring in both children and adults. This category consists of 5 neoplastic subtypes: chronic myelomonocytic leukemia (CMML), juvenile myelomonocytic leukemia (JMML), BCR-ABL1–negative atypical chronic myeloid leukemia (aCML), MDS/MPN-ring sideroblasts and thrombocytosis (MDS/MPN-RS-T), and MDS/MPN-unclassifiable (U). Cytogenetic abnormalities and somatic copy number variations are uncommon; however, >90% patients harbor gene mutations. Although no single gene mutation is specific to a disease subtype, certain mutational signatures in the context of appropriate clinical and morphological features can be used to establish a diagnosis. In CMML, mutated coexpression of TET2 and SRSF2 results in clonal hematopoiesis skewed toward monocytosis, and the ensuing acquisition of driver mutations including ASXL1, NRAS, and CBL results in overt disease. MDS/MPN-RS-T demonstrates features of SF3B1-mutant MDS with ring sideroblasts (MDS-RS), with the development of thrombocytosis secondary to the acquisition of signaling mutations, most commonly JAK2V617F. JMML, the only pediatric entity, is a bona fide RASopathy, with germline and somatic mutations occurring in the oncogenic RAS pathway giving rise to disease. BCR-ABL1–negative aCML is characterized by dysplastic neutrophilia and is enriched in SETBP1 and ETNK1 mutations, whereas MDS/MPN-U is the least defined and lacks a characteristic mutational signature. Molecular profiling also provides prognostic information, with truncating ASXL1 mutations being universally detrimental and germline CBL mutations in JMML showing spontaneous regression. Sequencing information in certain cases can help identify potential targeted therapies (IDH1, IDH2, and splicing mutations) and should be a mainstay in the diagnosis and management of these neoplasms.
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Dissertations / Theses on the topic "Myeloproliferative syndrome"

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Sohal, Jastinder. "The molecular analysis of the BP11 myeloproliferative syndrome." Thesis, Imperial College London, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.395537.

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Mansier, Olivier. "Etude de la calréticuline dans les syndromes myéloprolifératifs : de la détermination de la charge allélique aux mécanismes de dégradation des variants protéiques." Thesis, Bordeaux, 2017. http://www.theses.fr/2017BORD0832/document.

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Des mutations dans le gène de la calréticuline (CALR), codant pour une protéine résidente du réticulum endoplasmique (RE), ont été découvertes récemment dans les syndromes myéloprolifératifs (SMP). Elles sont associées à augmentation de prolifération cellulaire portant spécifiquement sur la lignée mégacaryocytaire. Ceci est le résultat d’une activation constitutive de la signalisation des voies JAK-STAT et MAP Kinases, consécutive à l’interaction des protéines mutantes CALR avec le récepteur à la thrombopoïétine. Plusieurs études ont montré la faible expression de ces protéines mutées dans les cellules, mais aucune n’a déterminé l’impact de leur expression sur l’homéostasie du RE ni les acteurs mis en jeu dans leur élimination. Dans ce travail, nous avons montré que l’expression des protéines CALR mutées ne perturbe pas sensiblement l’équilibre du RE et ne modifie pas la sensibilité des cellules à l’apoptose induite par un stress du RE. Nous avons ensuite démontré dans différents modèles, y compris des cellules engagées dans la différenciation mégacaryocytaire, que les faibles niveaux intracellulaires de variants protéiques CALR n’étaient pas liés à une sécrétion accrue dans le milieu extracellulaire ni à un défaut transcriptionnel. Cette faible expression est en fait la conséquence d’une dégradation mettant en jeu principalement la voie ERAD-protéasome. Dans ce processus, la reconnaissance de motifs glycans n’est pas impliquée, mais EDEM3 semble avoir un rôle majeur puisque son extinction augmente l’expression des formes mutées de CALR. La modulation de cette dégradation pourrait constituer une approche thérapeutique innovante dans les SMP
Mutations in the calreticulin gene (CALR), encoding for an endoplasmic reticulum (ER) resident protein, have recently been discovered in myeloproliferative neoplasms (MPN). They are associated with an increased cell proliferation, specifically in the megakaryocytic lineage. This is the result of a constitutive activation of the JAK-STAT and MAP kinase pathways, following the interaction of mutant calreticulin proteins with the thrombopoietin receptor. Several studies have demonstrated that these mutated proteins are faintly expressed in cells, but none have determined the impact of their expression on ER homeostasis, nor addressed the actors at play in their degradation. In this work, we showed that the expression of mutated CALR proteins does not significantly disturb ER equilibrium, nor does it change the cellular sensitivity to ER stress-induced apoptosis. We next demonstrated in different models including cells committed towards megakaryocytic differentiation that the poor intracellular levels of variant CALR proteins are neither due to enhanced secretion into the extracellular medium, nor to transcriptional defects. This low-level expression is mainly the result of increased degradation, involving the ERAD-proteasome pathway. In this process, the recognition of glycan motifs is not engaged, but EDEM3 seems to be a key component as its extinction increases the expression levels of variant forms of CALR. Modulating this degradation process could represent a therapeutic option for MPN patients
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Norton, Alice E. "Study of the haematology of children with down syndrome anthe role of GATA1 in the biology of transient myeloproliferative disorder and active megakaryoblastic leukaemia." Thesis, University of Oxford, 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.669964.

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Hasan, Salma. "JAK2V617F-positive Myeloproliferative Neoplasms : KI mouse models, Interferon-α therapy and clonal architecture." Phd thesis, Université Paris Sud - Paris XI, 2013. http://tel.archives-ouvertes.fr/tel-00918966.

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This work concerns malignant myeloid hemopathies called classical BCR-ABL-negative Myeloproliferative Neoplasms (MPN) and include Polycythemia Vera (PV), Essential Thrombocythemia (ET) and Primary Myelofibrosis (PMF). They result from the transformation of a multipotent hematopoietic stem cell (HSC) with hyperproliferation but no blockade of differentiation. The most common molecular defect is the acquired point mutation JAK2V617F resulting into the activation of the cytokine receptor/JAK2 pathway. We have developed a mouse constitutive and a conditional JAK2V617F knock-in (KI) mouse models. These animals developed a disease mimicking human PV evolving into secondary MF. They also displayed an age dependent increase in the total numbers of early hematopoietic cells (phenotype LK, LSK and SLAM: LSK/CD48-/CD150+). Using In vivo competitive repopulation assays we demonstrated that cells from KI origin outcompeted their WT counterparts and that a low number of JAK2V617F KI SLAM cells propagates the disease. These results show that the sole JAK2V617F mutation, without any additional mutations, is sufficient for disease phenotype and emergence. Using this KI mouse model, we tested the effect of interferon-a (IFNa) treatment on MPN development. We found that IFNa treats the disease phenotype by blocking the propagation of early JAK2V617F cells and eradicates disease-initiating cells, showing that IFNα could cure the disease in mice, as shown in some PV patients. Finally, we developed a new method combining the measurement of 46/1 SNPs and JAK2V617F allele burdens in blood predicting the frequency of normal, heterozygous and homozygous JAK2V617F clones in PV patients. This study suggested that IFNa preferentially targets the homozygous JAK2V617F clone in PV patients suggesting a link between the levels of JAK2 signaling and the success of the IFNa response.
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Mazzi, Stefania. "Study of the role of the methyltransferase EZH2 in normal and pathological megakaryopoiesis." Thesis, Sorbonne Paris Cité, 2018. https://theses.md.univ-paris-diderot.fr/MAZZI_Stefania_2_complete_20180926.pdf.

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Le processus qui aboutit à la formation de plaquettes est appelé mégacaryopoïèse. Les mégacaryocytes (MK) sont de grandes cellules de la moelle osseuse qui par fragmentation dans la circulation sanguine produisent des plaquettes. La régulation extrinsèque ou intrinsèque de ce processus a été largement étudiée. Cependant la régulation épigénétique reste mal connue bien que de nombreuses mutations dans des gènes de régulateurs épigénétiques soient retrouvées dans les hémopathies malignes de la lignée MK. En particulier des mutations du gène de la méthyltransférase EZH2, composant catalytique du Polycomb Repressive Complex 2 (PRC2) ont été détectées dans plusieurs types d’hémopathies. Ces mutations sont soit gain soit perte de fonction suggérant qu’EZH2 peut être à la fois un oncogène ou un gène suppresseur de tumeur. Dans les TE (Thrombocythémie Essentielle) et les MFP (Myélofibrose Primaire), deux néoplasmes myéloprolifératifs (NMPs), qui affectent principalement la lignée MK, des mutations d’EZH2 perte de fonction ont été retrouvées ainsi que dans les DS-AMKL (Down syndrome acute megakaryoblastic leukemia). Cela suggère qu’EZH2 joue un rôle important dans la mégacaryopoïèse normale. La caractérisation de cette fonction pourrait être utile pour mieux appréhender le rôle des mutations d’EZH2 dans les pathologies malignes mégacaryocytaires. Cette thèse peut être divisée en deux parties : 1) Caractérisation du rôle joué par EZH2 dans la mégacaryopoïèse normale et pathologique 2) Développement d‘un outil permettant d’étudier la coopération entre mutations dans les DS-AMKL.1) Lors des temps précoces de la différenciation in vitro des cellules CD34+ de sang de cordon vers la lignée mégacaryocytaire l’inhibition d’EZH2 entraîne l’acquisition plus rapide des marqueurs MK de surface (CD41 et CD42) pour un nombre de mitoses égal. Ceci suggère qu’EZH2 régule la spécification MK des progéniteurs hématopoïétiques. Plus tard dans la différenciation, l'inhibition constante d’EZH2 via des inhibiteurs ou des shRNA, arrête la prolifération et diminue le niveau de ploïdie des MKs en arrêtant la réplication de l’ADN. Ceci est du à la surexpression de plusieurs CDKi (Cyclin dependent kinase inhibiteurs), dont CDKN2D. L'analyse par Chip-Seq a montré que la transcription de CDKN2D est régulée par H3K27me3 au niveau de son promoteur et donc que CDKN2D est une nouvelle cible de PRC2. Dans les MKs les plus matures, l’inhibition d’EZH2 diminue la formation des proplaquettes, ceci est corrélé à des modifications d’expression de gènes régulant le cytosquelette d’actine. L’ensemble de ces résultats a été confirmé sur des MKs de patients porteurs de la mutation JAK2V617F.2) Par la technique CRISPR-Cas9, nous avons introduit dans des iPSC (induced pluripotent stem cells) disomiques et trisomiques pour le chromosome 21, la mutation GATA1s présente chez tous les patients avec une DS-AMKL. Nous avons montré que ces mutations modifiaient le cadre de lecture dans l’exon 2 et entrainaient l’expression de la forme courte de GATA1 (GATA1s). Nous sommes en train d'effectuer des études fonctionnelles ainsi que d’introduire d’autres mutations, y compris celles d’EZH2 pour modéliser la maladie.Au cours de cette thèse nous avons montré que l’inhibition d’EZH2 régule les temps initiaux de la mégacaryopoïèse en accélérant la spécification cellulaire au niveau des progéniteurs et ensuite la maturation terminale en inhibant profondément la polyploïdisation par surexpression de plusieurs CDKi dont CDKN2D et en inhibant la formation des plaquettes par un effet sur le cytosquelette d’actine. Ces résultats pourront être utiles pour mieux comprendre le rôle de la perte de fonction d’EZH2 dans les hémopathies malignes de la lignée mégacaryocytaire
The process that leads to platelet production is called megakaryopoiesis. Megakaryocytes (MK) are the large bone marrow cells that produce platelets by fragmentation in the blood flow. The extrinsic and intrinsic regulation of megakaryopoiesis has been largely studied. However, the epigenetic regulation remains poorly known although numerous mutations in genes of epigenetic regulators have been found in patients with MK hematological malignancies. The methyltransferase EZH2, the catalytic component of Polycomb Repressive Complex 2 (PRC2) is among the most studied epigenetic regulators. EZH2 is also mutated in many malignant hematological disorders where it can be an oncogene or a tumor suppressor gene. Particularly in ET (Essential Thrombocythemia) and PMF (Primary Myelofibrosis), two myeloproliferative neoplasms (MPNs) that affect mainly the MK lineage, loss of function EZH2 mutations have been found as well as in DS-AMKL (Down syndrome acute megakaryoblastic leukemia)Altogether these observations suggest that EZH2 controls normal megakaryopoiesis and characterization of this function could be helpful to understand the role of EZH2 in MK malignant diseases.This thesis can be divided in two parts:1) Characterization of the role of EZH2 in normal and pathological megakaryopoiesis 2) Establishment of a cellular tool to study the cooperation between the different mutations of DS-AMKL. RESULTS1) Using CD34+ cells isolated from cord blood, we showed that at early stages of differentiation, EZH2 inhibition accelerates the acquisition of MK surface markers (CD41a and CD42a) without increasing proliferation suggesting that EZH2 regulates the specification towards the MK lineage. Later in differentiation the constant inhibition of EZH2 via inhibitors or shRNAs, produced a proliferation arrest and a decrease in ploidy level that was related to an arrest in DNA replication due to an upregulation of several CDKi (Cyclin dependent kinase inhibitors), more particularly CDKN2D. Chip-Seq analysis demonstrated that CDKN2D is effectively regulated by H3K27me3 and is a new target of PRC2. This inhibition of ploidization by EZH2 inhibition was confirmed in MK from JAK2V617F patients. Furthermore in the more mature MKs (normal or JAK2V617F) we observed a defect in proplatelet formation, which was associated with an abnormal expression of genes regulating the actin filament. 2) By CRISPR-Cas 9, in iPSCs either disomic or chromosome 21 trisomic, we introduced, the GATA1s mutation present in all DS-AMKL patients. We confirmed at the gene and protein level that this genome editing has been correctly performed and that it induces as previously observed a blockage in erythroid differentiation. We are now carrying out the complete functional characterization together with the introduction of other mutations of DS-AMKL including EZH2.CONCLUSIONThis study describes EZH2 as a regulator of megakaryopoiesis via an initial control of cell specification and then of MK maturation. These results will be useful to better understand the role that EZH2 plays in diseases affecting the MK lineage such as MPNs and DS-AMKL
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Poisson, Johanne. "Physiopathologie des évènements cardiovasculaires chez les malades atteints de syndrome myéloprolifératif Bcr/Abl-négatif Erythrocyte microvesicles increase arterial contraction in JAK2V617F myeloproliferative neoplasms Endothelial JAK2V617F does not enhance liver lesions in mice with Budd-Chiari syndrome Selective testing for calreticulin gene mutations in patients with splanchnic vein thrombosis: a prospective cohort study." Thesis, Sorbonne Paris Cité, 2018. https://wo.app.u-paris.fr/cgi-bin/WebObjects/TheseWeb.woa/wa/show?t=2193&f=13305.

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Les syndromes myéloprolifératifs Bcr/Abl-negatifs (SMP) sont des maladies hématopoïétiques clonales, secondaires dans 80% des cas à la mutation sporadique JAK2V617F. JAK2V617F a été récemment mise en évidence dans les cellules endothéliales. Les deuxièmes mutations en ordre de fréquence sont les mutations de Calréticulin (CALR). Les évènements cardiovasculaires sont la première cause de mortalité des malades atteints de SMP (2/3 artériels et 1/3 veineux). Les évènements veineux sont caractérisés par une fréquence particulièrement élevée de thromboses survenant dans des sites inhabituels, comme les veines splanchniques (veines hépatiques (syndrome de Budd-Chiari) ou veine porte). Les mécanismes responsables de ces évènements cardiovasculaires chez les malades atteints de SMP sont mal compris. Les conséquences phénotypiques et fonctionnelles de la mutation JAK2V617F sur les cellules endothéliales n'ont pas été évaluées. L'objectif global de ce travail est de mieux comprendre la physiopathologie des évènements cardio-vasculaires associés aux SMP, sur le plan artériel, j'ai montré, grâce à des expériences de myographie, que les aortes de souris portant JAK2V617F à la fois dans leurs cellules hématopoïétiques et endothéliales ont une très forte augmentation de la réponse aux agents vasoconstricteurs alors que cet effet n'est pas observé lorsque la mutation est uniquement endothéliale. J'ai ensuite isolé des microvésicules plasmatiques de malades porteurs de JAK2V617F, non traités pour leur SMP, et ai observé que ces microvésicules reproduisent l'effet d'hyperréponse artérielle aux agents vasoconstricteurs. J'ai par la suite montré que seules les microvésicules de globules rouges portant la mutation JAK2V617F étaient responsables de cet effet. J'ai ensuite analysé les mécanismes impliqués et ai déterminé que cette hyperréactivité vasculaire est dépendante de l'endothélium et des NO synthases. De plus, j'ai aussi mis en évidence une forte augmentation du stress oxydant dans l'endothélium des aortes de souris portant la mutation JAK2V617F en comparaison aux souris sauvages, suggérant que les perturbations de la voie du NO résultent d'une génération de stress oxydant induite par les microvésicules de globules rouges. Ces données nous ont poussés à évaluer de nouvelles thérapeutiques, comme les statines, qui sont des molécules anti-cholestérolémiques ayant indépendamment du cholestérol un effet anti-oxydant bénéfique sur la fonction endothélial. J'ai montré que l'utilisation de simvastatine chez les souris portant la mutation JAK2V617F diminue significative cette hyperréactivité vasculaire en comparaison aux souris contrôles. Mes résultats suggèrent que chez les malades atteints de SMP une hyperréponse aux agents vasoconstricteurs induite par les microvésicules circulantes d'origine érythrocytaire pourrait participer aux accidents artériels et que de nouvelles thérapeutiques, comme les statines pourraient être prometteuses. Sur le plan veineux, en analysant une cohorte prospective de 312 patients atteints de thromboses splanchniques, j'ai pu déterminer la prévalence des mutations CALR dans cette population (2%) et identifier un groupe de malades (ceux sans JAK2V617F et ayant une taille de rate >ou= 16cm et des plaquettes > 200G/L) chez lesquels la recherche des mutations CALR doit être effectuée. Ces critères ont une excellente valeur prédictive négative (100%) et permettent d'éviter 96% de tests inutiles. J'ai confirmé ces critères grâce à une collaboration européenne dans une cohorte de validation espagnole comprenant 209 patients. Je me suis aussi attachée à déterminer le rôle de JAK2V617F endothélial dans les conséquences hépatiques des thromboses des veines hépatiques. Nous avons montré que la présence de la mutation JAK2V617F dans l'endothélium n'aggrave pas le développement des lésions hépatiques secondaires à un syndrome de Budd-Chiari, ni en termes de fibrose hépatique ni en termes d'hypertension portale
Classical myeloproliferative neoplasms (MPNs) are clonal hematopoietic diseases. The sporadic mutation JAK2V617F is present in 80% of patients. JAK2V617F has recently been demonstrated in endothelial cells. The second most frequent mutations are Calreticulin mutations (CALR). Cardiovascular events are the leading cause of death in patients with MPNs (2/3 arterial and 1/3 venous). Venous events are characterized by a particularly high frequency of unusual sites involvement, such as splanchnic veins thrombosis (hepatic veins (Budd-Chiari syndrome) or portal vein). Mechanisms responsible for these cardiovascular events in patients with MPNs are poorly understood. The phenotypic and functional consequences of JAK2V617F mutation in endothelial cells have not been evaluated. The overall objective of this work is to better understand the pathophysiology of cardio-vascular events associated with MPNs. On the arterial side, I have shown, through myography experiments, that mouse aorta carrying JAK2V617F both in their hematopoietic and endothelial cells display a very strong increased vasoconstrictive response whereas this effect is not observed when the mutation is only endothelial. I then isolated circulating microvesicles from patients carrying JAK2V617F mutation and observed that these microvesicles reproduce the increased arterial vasoconstrictive response. I subsequently showed that only microvesicles from red blood cells carrying the JAK2V617F mutation were responsible for this effect. I then analysed the mechanisms involved and determined that this vascular hyperreactivity is endothelial-dependent via NO synthases inhibition. In addition, I also found a strong increase in oxidative stress in the aortic endothelium of mouse carrying the JAK2V617F mutation compared to wild-type mice, suggesting that the NO pathway inhibition results from oxidative stress induced by red blood cells microvesicles. These data prompted us to evaluate new therapeutics, such as statins, which are anti-cholesterolemic molecules that have antioxidant effect beneficial to endothelial function. I have shown that the use of simvastatin in mice carrying the JAK2V617F mutation significantly decreases this vascular hyperreactivity compared to control. My results suggest that patients with MPNs may have an increased arterial vasoconstrictive response induced by erythrocytes microvesicles and that new therapies such as statins may be promising. On the venous side, by analysing a prospective cohort of 312 patients with splanchnic thrombosis, I was able to determine the prevalence of CALR mutations in this population (2%) and identify a group of patients (those without JAK2V617F and having a spleen >or= 16cm and platelets> 200G / L) in which the search for CALR mutations must be performed. These criteria have an excellent negative predictive value (100%) and 96% of useless tests could be avoided. I confirmed these criteria through European collaboration in a Spanish validation cohort of 209 patients. I also focused on determining the role of endothelial JAK2V617F in hepatic consequences of hepatic veins thrombosis. We have shown that the presence of the JAK2V617F mutation in the endothelium does not worsen the development of hepatic lesions secondary to Budd-Chiari syndrome, nor in terms of hepatic fibrosis nor in terms of portal hypertension
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Chauveau, Aurélie. "Identification des mutations à visée diagnostique et pronostique dans les néoplasies myéloprolifératives et impact sur l'épissage alternatif Sequential analysis of 18 genes in polycythemia vera and essential thrombocythemia reveals an association between mutational status and clinical outcome, in Genes chromosomes & cancer 56(5), May 2017 Benefits and pitfalls of pegylated interferon-α2a therapy in patients with myeloproliferative neoplasm-associated myelofibrosis: a French Intergroup of Myeloproliferative neoplasms (FIM) study, in Haematologica 103, March 2018." Thesis, Brest, 2019. http://www.theses.fr/2019BRES0042.

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Les néoplasies myéloprolifératives (NMP), non BCR-ABL1, regroupent principalement la polyglobulie de Vaquez (PV), la thrombocytémie essentielle (TE) et la myélofibrose primitive (MFP).Ces pathologies partagent, dans des proportions variables, une mutation commune, la mutation JAK2 V617F. La protéine JAK2 mutée a une activité tyrosine kinase constitutive, impliquée dans le développement de la maladie. Cette mutation, seule, n’explique pas l’hétérogénéité phénotypique au sein des NMP. L’avènement des techniques de séquençage haut débit a permis de mieux appréhender la physiopathologie. Notre travail avait pour objectif l’identification de mutations additionnelles au sein de deux cohortes suivies au long cours en lien avec un risque d’aggravation de la maladie, l’une regroupant des patients en phase chronique (TE et PV JAK2 V617F), la seconde regroupant des patients avec une myélofibrose traitée par interféron. A l’instar d’autres travaux récents, nous avons montré que le nombre de mutations et la présence de mutations additionnelles sont associés à l’évolution de la maladie, voire à la réponse au traitement.Parmi les mutations identifiées, certaines pourraient influencer l’épissage. La deuxième partie de ce travail a donc consisté à étudier l’épissage alternatif en fonction des mutations présentes, et en particulier la mutation JAK2 (V617F) et de manière globale dans les TE. Un saut de l’exon 14 de JAK2 a été décrit chez des patients NMP présentant, ou non, la mutation JAK2 V617F. Cette mutation du gène JAK2 est prédite pour altérer un site de fixation de la protéine SRSF6 régulatrice de l’épissage. Nous observons que le saut de l’exon 14 est un événement peu fréquent chez les patients, modulé en partie par l’expression des protéines SR. L’analyse transcriptomique montre une grande hétérogénéité entre les patients en termes d’expression et d’épissage, ce qui ne nous a pas permis de mettre en évidence de profil caractéristique. Ces résultats soulignent l’importance de l’identification des mutations additionnelles au diagnostic et au cours du suivi.Nous avons pu, en outre, identifier quelques transcrits alternatifs associés à la présence de ces mutations. Le rôle fonctionnel de ces variants reste à définir
Polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) are a group of Philadelphia-negative myeloproliferative neoplasm (MPN). These diseases share a common mutation, JAK2 V617F, in varying proportions. The mutated JAK2 protein has a constitutive tyrosine kinase activity, implicated in the physiopathology of MPN. This mutation alone does not explain the phenotypic heterogeneity within MPN.High throughput sequencing techniques helped understanding the physiopathology. This work aimed to identify additional mutations in two patient cohorts related to the aggravation risk of the disease. The first one consisted of patients in chronic phase (JAK2 V617F ET and PV), the second consisted in patients with myelofibrosis treated with interferon. Like other studies, we have shown that the number of mutations and the presence of additional mutations are associated with disease progression or with response to treatment. Some identified mutations could influence splicing. The second part of this work aimed at studying the putative impact of the JAK2 V617F mutation, on alternative splicing (AS).We also analyzed global AS profiles in ET. JAK2 exon 14 skipping has been described in NMP patients with or without the JAK2 V617F mutation.This mutation was predicted to alter the binding site of the SRSF6 splice-regulating protein. We observed that exon 14 skipping was an uncommon event in patients, in part related to SR protein expression. In addition, our transcriptomic-wide analysis showed a great heterogeneity between the patients with respect to both gene expression and splicing. This prevented us from identifying any characteristic profile. These results underscore the importance of identifying additional mutations at diagnosis and during follow-up. We have also been able to uncover some alternative transcripts associated with the presence of these mutations.The functional role of these variants remains to be defined
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Le, Bousse-Kerdiles Caroline. "Etude physiopathologique du syndrome myeloproliferatif provoque par le virus sarcomatogene myeloproliferatif murin : mise en evidence d'une activite stimulant la proliferation et la differenciation des cellules souches hematopoietiques pluripotentes." Paris 7, 1987. http://www.theses.fr/1987PA077220.

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Henderson, Samantha [Verfasser], Claus-Henning [Akademischer Betreuer] Köhne, and Jochen [Akademischer Betreuer] Casper. "Treosulfan, Fludarabine and Cytarabine as a Conditioning Regimen for Allogeneic Haematopoietic Stem Cell Transplantation in Patients with Acute Myeloid Leukaemia, Myelodysplastic Syndrome and Myeloproliferative Neoplasms / Samantha Henderson ; Claus-Henning Köhne, Jochen Casper." Oldenburg : BIS der Universität Oldenburg, 2020. http://d-nb.info/1228535612/34.

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CHAMI, SOUMAYA. "Association d'un syndrome myeloproliferatif et d'un syndrome lymphoproliferatif chronique : a propos de trois cas." Aix-Marseille 2, 1989. http://www.theses.fr/1989AIX20389.

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Books on the topic "Myeloproliferative syndrome"

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Steensma, David P. Malignant Hematology. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780199755691.003.0296.

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The hematologic neoplasms include lymphoproliferative disorders (eg, chronic lymphocytic leukemia [CLL]/small lymphocytic lymphoma [SLL], large granular lymphocyte leukemia, hairy cell leukemia [HCL], Hodgkin lymphoma, non-Hodgkin lymphoma), plasma cell disorders (multiple myeloma, light chain amyloidosis, Waldenström macroglobulinemia, POEMS syndrome, heavy chain disease, plasmacytoma), chronic myeloid neoplasms (chronic myeloid leukemia, the BCR/ABL-negative myeloproliferative neoplasms, myelodysplastic syndromes), and acute leukemia (acute myeloid leukemia, acute lymphocytic leukemia). In addition, clonal but not overtly malignant conditions are common in the general population, including monoclonal gammopathy of undetermined significance (MGUS) and monoclonal B lymphocytosis (MBL).
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Provan, Drew, Trevor Baglin, Inderjeet Dokal, and Johannes de Vos. Myeloproliferative neoplasms. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199683307.003.0007.

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Myeloproliferative neoplasms (MPNs) - Pathogenesis of the MPNs - Polycythaemia vera (PV) - Natural history of PV - Management of PV - Secondary erythrocytosis - Relative erythrocytosis - Idiopathic erythrocytosis - Essential thrombocythaemia - Reactive thrombocytosis - Primary myelofibrosis - Chronic neutrophilic leukaemia - Eosinophilic syndromes and neoplasms - Mastocytosis (mast cell disease) - Systemic mastocytosis - MPN—unclassifiable
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Provan, Drew, Trevor Baglin, Inderjeet Dokal, Johannes de Vos, and Mammit Kaur. Myeloproliferative neoplasms. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199683307.003.0007_update_001.

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Myeloproliferative neoplasms (MPNs) - Pathogenesis of the MPNs - Polycythaemia vera (PV) - Natural history of PV - Management of PV - Secondary erythrocytosis - Relative erythrocytosis - Idiopathic erythrocytosis - Essential thrombocythaemia - Reactive thrombocytosis - Primary myelofibrosis - Chronic neutrophilic leukaemia - Eosinophilic syndromes and neoplasms - Mastocytosis (mast cell disease) - Systemic mastocytosis - MPN—unclassifiable
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S, Young Neal, ed. Bone marrow failure syndromes. Philadelphia: Saunders, 2000.

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Provan, Drew, Trevor Baglin, Inderjeet Dokal, and Johannes de Vos. Myelodysplasia. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199683307.003.0006.

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Myelodysplastic syndromes (MDS) - Classification of MDS - Clinical features of MDS - Prognostic factors in MDS - Clinical variants of MDS - Management of MDS - Response criteria - Myelodysplastic/myeloproliferative diseases (MDS/MPD)
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Provan, Drew, Trevor Baglin, Inderjeet Dokal, Johannes de Vos, and Mammit Kaur. Myelodysplasia. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199683307.003.0006_update_001.

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Myelodysplastic syndromes (MDS) - Classification of MDS - Clinical features of MDS - Prognostic factors in MDS - Clinical variants of MDS - Management of MDS - Response criteria - Myelodysplastic/myeloproliferative diseases (MDS/MPD)
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Chronic Myeloid Neoplasias And Clonal Overlap Syndromes Epidemiology Pathophysiology And Treatment Options. Springer, 2010.

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Jolly, Elaine, Andrew Fry, and Afzal Chaudhry, eds. Haematology. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199230457.003.0011.

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Chapter 11 covers the basic science and clinical topics relating to haematology which trainees are required to learn as part of their basic training and demonstrate in the MRCP. It covers basic science, anaemia, bone marrow failure, haemoglobinopathies, acute leukaemias, myelodysplastic syndromes , chronic leukaemias, myeloproliferative disorders, lymphomas, multiple myeloma and related diseases, and haemostasis and thrombosis.
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Elham, Bayat. Neurologic Manifestations of Hematological Disease. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0193.

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A wide sprectum of hematologic disorders affect the central and peripheral nervous system. These disorders include porphyria, thrombotic thrombocytopenic purpura-hemolytic uremic syndromes, sickle cell disease, plasma cell dyscrasias, monoclonal gammopathy, primary systemic amyloidosis, primary systemic amyloidosis, Waldonstrom’s macroglobulinemia, myeloproliferative syndromes, cryoglobulinemia, and polycythemia vera. Some, like porphyria, cause both central and peripheral nervous system manifestations including sensory/motor peripheral neuropathy, dysautonomia, pain, seizures, and abdominal pain. Others such as sickle cell disease primarily affect the brain and cause both clinically apparent strokes associated with a vasculopathy of large intracranial blood vessels, as well as less obvious microstrokes that cause progressive cognitive decline if not treated.
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Linet, Martha S., Lindsay M. Morton, Susan S. Devesa, and Graça M. Dores. Leukemias. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780190238667.003.0038.

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The 2001 World Health Organization (WHO) classification of hematopoietic and lymphoid neoplasms categorized “the leukemias” into two major groupings—myeloid and lymphoid. Myeloid neoplasms, which are the primary focus of this chapter, include acute myeloid leukemia (AML), myelodysplastic syndromes (MDS), and myeloproliferative neoplasms (MPN). Lymphoid neoplasms are mostly reviewed as part of non-Hodgkin lymphoma in Chapter 40 of this volume, although descriptive patterns and selected etiologic studies are briefly discussed in this chapter because of historical trends. Worldwide, leukemias are ranked eleventh among all cancer types, comprising approximately 2.5% of all malignancies. Exposure to ionizing radiation and certain chemical carcinogens (e.g., cytotoxic chemotherapy, benzene, formaldehyde) are the most consistently associated risk factors for MDS and/or AML. Radiation has been linked with CML, and cigarette smoking with AML. Fewer risk factors have been identified for MPNs. Some evidence implicates increased risks of AML in rubber workers, farmers, and other agricultural workers.
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Book chapters on the topic "Myeloproliferative syndrome"

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Kühne, Thomas. "Myeloproliferative Syndrome." In Kompendium Kinderonkologie, 61–74. Berlin, Heidelberg: Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-662-43485-7_6.

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Niederle, N., and B. Weidmann. "Myeloproliferative Syndrome." In Therapiekonzepte Onkologie, 155–69. Berlin, Heidelberg: Springer Berlin Heidelberg, 1995. http://dx.doi.org/10.1007/978-3-662-10494-1_8.

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Niederle, N., and B. Weidmann. "Myeloproliferative Syndrome." In Therapiekonzepte Onkologie, 50–57. Berlin, Heidelberg: Springer Berlin Heidelberg, 1993. http://dx.doi.org/10.1007/978-3-662-10495-8_5.

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Niederle, N. "Myeloproliferative Syndrome." In Therapie innerer Krankheiten, 567–79. Berlin, Heidelberg: Springer Berlin Heidelberg, 1995. http://dx.doi.org/10.1007/978-3-662-10479-8_42.

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Niederle, N. "Myeloproliferative Syndrome." In Therapie innerer Krankheiten, 412–17. Berlin, Heidelberg: Springer Berlin Heidelberg, 1991. http://dx.doi.org/10.1007/978-3-662-10481-1_42.

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Burkhardt, R. "Myeloproliferative Syndrome." In Therapie innerer Krankheiten, 343–54. Berlin, Heidelberg: Springer Berlin Heidelberg, 1988. http://dx.doi.org/10.1007/978-3-662-10483-5_42.

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Gattermann, Norbert. "Myeloproliferative Syndrome." In Die Onkologie, 1743–66. Berlin, Heidelberg: Springer Berlin Heidelberg, 2010. http://dx.doi.org/10.1007/978-3-540-79725-8_84.

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Fritze, Dieter. "Myeloproliferative Syndrome." In Medikamentöse Krebsbehandlung, 378–80. Heidelberg: Steinkopff, 1986. http://dx.doi.org/10.1007/978-3-642-72403-9_29.

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Kühne, T. "Myeloproliferative Syndrome (MPS) oder chronische myeloproliferative Erkrankungen." In Kompendium Kinderonkologie, 61–71. Berlin, Heidelberg: Springer Berlin Heidelberg, 2004. http://dx.doi.org/10.1007/978-3-642-18678-3_6.

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De Stefano, Valerio, and Elena Rossi. "Budd–Chiari Syndrome and Myeloproliferative Neoplasms." In Budd-Chiari Syndrome, 73–88. Singapore: Springer Singapore, 2019. http://dx.doi.org/10.1007/978-981-32-9232-1_6.

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Conference papers on the topic "Myeloproliferative syndrome"

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Alexandra-Elena, Neaga, Blag Cristina, Bota Madalina, and Popa Gheorghe. "P138 Transient myeloproliferative disorder followed by acute biphenotypic leukaemia in a child with down syndrome." In 8th Europaediatrics Congress jointly held with, The 13th National Congress of Romanian Pediatrics Society, 7–10 June 2017, Palace of Parliament, Romania, Paediatrics building bridges across Europe. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2017. http://dx.doi.org/10.1136/archdischild-2017-313273.226.

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López-Fernández, M. F., C. López-Berges, R. Martín, A. Pardo, F. J. Romos, and J. Batlle. "ABNORMAL STRUCTURE OF VON WILLEBRAND FACTOR IN MYELOPROLIFERATIVE SYNDROME IS ASSOCIATED WITH EITHER THROMBOTIC OR BLEEDING DIATHESIS." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644089.

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The multimeric and subunit patterns of plasma von Willebrand factor (vWF) were analyzed in eight patients with myeloproliferative syndrome (MS) in order to investigate the possible existence of heterogeneity in the "in vivo" proteolytic cleavage of the protein, previously observed in this entity. Six patients lacked large vWF multimers, five of them having normal bleeding times (BT) and clinically documented episodes of thrombotic origin, whereas one patient had long BT and bleeding symptoms. Seven patients showed an increase 176 kDa subunit fragment while the 189 kDa polypeptide was increased in only one. In addition, another patient (and prior to any therapy) showed the presence of a new fragment of aproximately 95 kDa which disappeared after Busulfan therapy. The collection of blood from these patients with proteinase inhibitors did not correct the abnormalities.The infusion of DDAVP to two patients with abnormal vWF was accompanied by: the appearence of larger vWF multimers which disappeared rapidly from plasma; an increase in the relative proportion of the satellite bands of each multimer and a further increase in the 176 kDa fragment. These data show some heterogeneity in the vWF abnormality present in MS which may be related in part to a variable degree of proteolysis of vWF ocurring "in vivo" rather than "in vitro", and which may be associated to either a bleeding or (even) a thrombotic diathesis. They also suggest that despite the presence of abnormal, already proteolyzed vWF, DDAVP-enhanced proteolysis occurs in MS to a similar extent as described in normal individuals.
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