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  1. Article ; Online: Clonal Architecture in Myeloproliferative Neoplasms: Old Dog, New Tricks?

    Godfrey, Anna L

    HemaSphere

    2023  Volume 7, Issue 6, Page(s) e903

    Language English
    Publishing date 2023-05-17
    Publishing country United States
    Document type Editorial
    ISSN 2572-9241
    ISSN (online) 2572-9241
    DOI 10.1097/HS9.0000000000000903
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Myeloproliferative neoplasms (MPNs).

    Godfrey, Anna L

    Blood reviews

    2020  Volume 42, Page(s) 100717

    MeSH term(s) Disease Management ; Genetic Testing ; Humans ; Myeloproliferative Disorders/diagnosis ; Myeloproliferative Disorders/epidemiology ; Myeloproliferative Disorders/pathology ; Myeloproliferative Disorders/therapy ; Prognosis ; Risk Factors ; Signal Transduction
    Language English
    Publishing date 2020-06-03
    Publishing country England
    Document type Editorial ; Introductory Journal Article
    ZDB-ID 639015-8
    ISSN 1532-1681 ; 0268-960X
    ISSN (online) 1532-1681
    ISSN 0268-960X
    DOI 10.1016/j.blre.2020.100717
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  3. Article ; Online: Low-Risk Essential Thrombocythemia: A Comprehensive Review.

    Robinson, Andrew J / Godfrey, Anna L

    HemaSphere

    2021  Volume 5, Issue 2, Page(s) e521

    Abstract: Essential thrombocythemia (ET) is a chronic myeloproliferative neoplasm characterized by a persistently elevated platelet count in the absence of a secondary cause. The clinical consequences of uncontrolled thrombocytosis can include both thrombosis and ... ...

    Abstract Essential thrombocythemia (ET) is a chronic myeloproliferative neoplasm characterized by a persistently elevated platelet count in the absence of a secondary cause. The clinical consequences of uncontrolled thrombocytosis can include both thrombosis and hemorrhage. Patients with features conferring a "high risk" of vascular events benefit from reduction of the platelet count through cytoreductive therapy. The management of patients who lack such high-risk features has until recently been less well defined, but it is now apparent that many require minimal or even no intervention. In this review, we discuss the diagnostic pathway for younger patients with unexplained thrombocytosis, including screening molecular investigations, the role of bone marrow biopsy, and investigations in those patients negative for the classic myeloproliferative neoplasm driver mutations (
    Language English
    Publishing date 2021-01-27
    Publishing country United States
    Document type Journal Article ; Review
    ISSN 2572-9241
    ISSN (online) 2572-9241
    DOI 10.1097/HS9.0000000000000521
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Essential thrombocythemia: challenges in clinical practice and future prospects.

    Godfrey, Anna L / Green, Anna C / Harrison, Claire N

    Blood

    2022  Volume 141, Issue 16, Page(s) 1943–1953

    Abstract: Essential thrombocythemia (ET) was first described in 1934, and subsequently, progress has been made in better understanding the molecular pathogenesis and which patients may have greatest risk of progression or vascular events. However, it has been more ...

    Abstract Essential thrombocythemia (ET) was first described in 1934, and subsequently, progress has been made in better understanding the molecular pathogenesis and which patients may have greatest risk of progression or vascular events. However, it has been more than a decade since a new therapy has been approved for ET. We are beginning to understand more comprehensively both the heterogeneity of this disease, which is largely driven by driver mutation status, as well as the effect of disease-related symptoms, such as fatigue, on patients. In this review we provide a practical overview of diagnosis and management of ET with focus on challenging patient scenarios and some consideration of what comprehensive care might entail. Finally, we also discuss newer therapies and how these might be assessed.
    MeSH term(s) Humans ; Thrombocythemia, Essential/diagnosis ; Thrombocythemia, Essential/genetics ; Thrombocythemia, Essential/therapy ; Janus Kinase 2/genetics
    Chemical Substances Janus Kinase 2 (EC 2.7.10.2)
    Language English
    Publishing date 2022-11-15
    Publishing country United States
    Document type Review ; Journal Article
    ZDB-ID 80069-7
    ISSN 1528-0020 ; 0006-4971
    ISSN (online) 1528-0020
    ISSN 0006-4971
    DOI 10.1182/blood.2022017625
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Genomic heterogeneity in myeloproliferative neoplasms and applications to clinical practice.

    Lee, Joe / Godfrey, Anna L / Nangalia, Jyoti

    Blood reviews

    2020  Volume 42, Page(s) 100708

    Abstract: The myeloproliferative neoplasms (MPN) polycythaemia vera, essential thrombocythaemia and primary myelofibrosis are chronic myeloid disorders associated most often with mutations in JAK2, MPL and CALR, and in some patients with additional acquired ... ...

    Abstract The myeloproliferative neoplasms (MPN) polycythaemia vera, essential thrombocythaemia and primary myelofibrosis are chronic myeloid disorders associated most often with mutations in JAK2, MPL and CALR, and in some patients with additional acquired genomic lesions. Whilst the molecular mechanisms downstream of these mutations are now clearer, it is apparent that clinical phenotype in MPN is a product of complex interactions, acting between individual mutations, between disease subclones, and between the tumour and background host factors. In this review we first discuss MPN phenotypic driver mutations and the factors that interact with them to influence phenotype. We consider the importance of ongoing studies of clonal haematopoiesis, which may inform a better understanding of why MPN develop in specific individuals. We then consider how best to deploy genomic testing in a clinical environment and the challenges as well as opportunities that may arise from more routine, comprehensive genomic analysis of patients with MPN.
    MeSH term(s) Animals ; Calreticulin/genetics ; Disease Progression ; Genetic Testing ; Genomics ; Humans ; Janus Kinase 2/genetics ; Mutation ; Myeloproliferative Disorders/diagnosis ; Myeloproliferative Disorders/genetics ; Myeloproliferative Disorders/pathology ; Prognosis ; Receptors, Thrombopoietin/genetics
    Chemical Substances CALR protein, human ; Calreticulin ; Receptors, Thrombopoietin ; MPL protein, human (143641-95-6) ; JAK2 protein, human (EC 2.7.10.2) ; Janus Kinase 2 (EC 2.7.10.2)
    Language English
    Publishing date 2020-05-19
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 639015-8
    ISSN 1532-1681 ; 0268-960X
    ISSN (online) 1532-1681
    ISSN 0268-960X
    DOI 10.1016/j.blre.2020.100708
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  6. Article ; Online: Changes in practice within a haematological malignancy diagnostic service: A 5-year retrospective study.

    Tobin, Jake / Egan, Caoimhe / Bloxham, David / Gudgin, Emma J / Morris, Audrey / Martin-Cabrera, Pedro / Raso-Barnett, Livia / Staniforth, Joy / Manasse, Bridget / Simeoni, Ilenia / Cullen, Matthew / Godfrey, Anna L

    British journal of haematology

    2024  

    Language English
    Publishing date 2024-05-12
    Publishing country England
    Document type Letter
    ZDB-ID 80077-6
    ISSN 1365-2141 ; 0007-1048
    ISSN (online) 1365-2141
    ISSN 0007-1048
    DOI 10.1111/bjh.19526
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  7. Article ; Online: After 10years of JAK2V617F: Disease biology and current management strategies in polycythaemia vera.

    Grinfeld, Jacob / Godfrey, Anna L

    Blood reviews

    2016  Volume 31, Issue 3, Page(s) 101–118

    Abstract: 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 ... ...

    Abstract 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. Important biological questions remain unanswered in PV, in particular how JAK2V617F affects stem cell function and what mechanisms drive myelofibrotic and leukaemic transformation. Whilst current management is largely centred on prevention of cardiovascular events, future therapies must aim to target the JAK2-mutant clone, to reverse the underlying marrow pathology and to address the risk of transformation events.
    MeSH term(s) Alleles ; Amino Acid Substitution ; Animals ; Cell Transformation, Neoplastic/genetics ; Cell Transformation, Neoplastic/metabolism ; Disease Management ; Gene Expression Regulation ; Genotype ; Hematopoietic Stem Cells/metabolism ; Humans ; Janus Kinase 2/genetics ; Janus Kinase 2/metabolism ; Mutation ; Myeloproliferative Disorders/genetics ; Myeloproliferative Disorders/metabolism ; Myeloproliferative Disorders/pathology ; Phenotype ; Polycythemia Vera/diagnosis ; Polycythemia Vera/genetics ; Polycythemia Vera/metabolism ; Polycythemia Vera/therapy ; Prognosis ; Signal Transduction
    Chemical Substances JAK2 protein, human (EC 2.7.10.2) ; Janus Kinase 2 (EC 2.7.10.2)
    Language English
    Publishing date 2016-11-15
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 639015-8
    ISSN 1532-1681 ; 0268-960X
    ISSN (online) 1532-1681
    ISSN 0268-960X
    DOI 10.1016/j.blre.2016.11.001
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  8. Article ; Online: The use of genetic tests to diagnose and manage patients with myeloproliferative and myeloproliferative/myelodysplastic neoplasms, and related disorders.

    Cross, Nicholas C P / Godfrey, Anna L / Cargo, Catherine / Garg, Mamta / Mead, Adam J

    British journal of haematology

    2021  Volume 195, Issue 3, Page(s) 338–351

    MeSH term(s) Biological Products ; Bone Marrow Examination ; Calreticulin/genetics ; Clone Cells ; Disease Management ; Exons/genetics ; Forecasting ; Genetic Testing ; Humans ; Janus Kinase 2/genetics ; Molecular Diagnostic Techniques ; Mutation, Missense ; Myelodysplastic Syndromes/diagnosis ; Myelodysplastic Syndromes/genetics ; Myelodysplastic Syndromes/pathology ; Myeloproliferative Disorders/diagnosis ; Myeloproliferative Disorders/genetics ; Myeloproliferative Disorders/pathology ; Oncogene Proteins, Fusion/genetics ; Point Mutation ; Prognosis ; Proto-Oncogene Proteins c-kit/genetics ; Receptor, Platelet-Derived Growth Factor alpha/genetics ; Receptors, Colony-Stimulating Factor/genetics ; Receptors, Thrombopoietin/genetics ; Severity of Illness Index ; mRNA Cleavage and Polyadenylation Factors/genetics
    Chemical Substances Biological Products ; CALR protein, human ; CSF3R protein, human ; Calreticulin ; Oncogene Proteins, Fusion ; Receptors, Colony-Stimulating Factor ; Receptors, Thrombopoietin ; mRNA Cleavage and Polyadenylation Factors ; MPL protein, human (143641-95-6) ; FIP1L1-PDGFRA fusion protein, human (EC 2.7.10.1) ; KIT protein, human (EC 2.7.10.1) ; Proto-Oncogene Proteins c-kit (EC 2.7.10.1) ; Receptor, Platelet-Derived Growth Factor alpha (EC 2.7.10.1) ; JAK2 protein, human (EC 2.7.10.2) ; Janus Kinase 2 (EC 2.7.10.2)
    Language English
    Publishing date 2021-08-18
    Publishing country England
    Document type Journal Article ; Practice Guideline
    ZDB-ID 80077-6
    ISSN 1365-2141 ; 0007-1048
    ISSN (online) 1365-2141
    ISSN 0007-1048
    DOI 10.1111/bjh.17766
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  9. Article ; Online: Inherited polygenic effects on common hematological traits influence clonal selection on JAK2

    Guo, Jing / Walter, Klaudia / Quiros, Pedro M / Gu, Muxin / Baxter, E Joanna / Danesh, John / Di Angelantonio, Emanuele / Roberts, David / Guglielmelli, Paola / Harrison, Claire N / Godfrey, Anna L / Green, Anthony R / Vassiliou, George S / Vuckovic, Dragana / Nangalia, Jyoti / Soranzo, Nicole

    Nature genetics

    2024  Volume 56, Issue 2, Page(s) 273–280

    Abstract: Myeloproliferative neoplasms (MPNs) are chronic cancers characterized by overproduction of mature blood cells. Their causative somatic mutations, for example, ... ...

    Abstract Myeloproliferative neoplasms (MPNs) are chronic cancers characterized by overproduction of mature blood cells. Their causative somatic mutations, for example, JAK2
    MeSH term(s) Humans ; Mutation ; Myeloproliferative Disorders/genetics ; Myeloproliferative Disorders/diagnosis ; Phenotype ; Neoplasms ; Janus Kinase 2/genetics ; Genetic Risk Score
    Chemical Substances Janus Kinase 2 (EC 2.7.10.2) ; JAK2 protein, human (EC 2.7.10.2)
    Language English
    Publishing date 2024-01-17
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1108734-1
    ISSN 1546-1718 ; 1061-4036
    ISSN (online) 1546-1718
    ISSN 1061-4036
    DOI 10.1038/s41588-023-01638-x
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    Zs.MG 46: Show issues

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  10. Article ; Online: Clonal origin of KMT2A wild-type lineage-switch leukemia following CAR-T cell and blinatumomab therapy.

    Coorens, Tim H H / Collord, Grace / Treger, Taryn D / Adams, Stuart / Mitchell, Emily / Newman, Barbara / Getz, Gad / Godfrey, Anna L / Bartram, Jack / Behjati, Sam

    Nature cancer

    2023  Volume 4, Issue 8, Page(s) 1095–1101

    Abstract: Children with acute lymphoblastic leukemia (ALL) undergoing anti-CD19 therapy occasionally develop acute myeloid leukemia (AML). The clonal origin of such lineage-switch ... ...

    Abstract Children with acute lymphoblastic leukemia (ALL) undergoing anti-CD19 therapy occasionally develop acute myeloid leukemia (AML). The clonal origin of such lineage-switch leukemias
    MeSH term(s) Child ; Female ; Humans ; Leukemia, Myeloid, Acute/drug therapy ; Leukemia, Myeloid, Acute/genetics ; Antibodies, Bispecific/therapeutic use ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics ; T-Lymphocytes
    Chemical Substances blinatumomab (4FR53SIF3A) ; Antibodies, Bispecific
    Language English
    Publishing date 2023-07-20
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 2662-1347
    ISSN (online) 2662-1347
    DOI 10.1038/s43018-023-00604-0
    Database MEDical Literature Analysis and Retrieval System OnLINE

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