Molecular diagnostics of myeloproliferative neoplasms

Autor: Langabeer, Stephen, Andrikovics, Hajnalka, Asp, Julia, Bellosillo, Beatriz, Carillo, Serge, Haslam, Karl, Kjaer, Lasse, Lippert, Eric, Mansier, Olivier, Oppliger Leibundgut, Elisabeth, Percy, Melanie, Porret, Naomi, Palmqvist, Lars, Schwarz, Jiri, McMullin, Mary, Schnittger, Susanne, Pallisgaard, Niels, Hermouet, Sylvie, EuroNet, MPN&MPNr
Přispěvatelé: Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Institut des Biomolécules Max Mousseron [Pôle Chimie Balard] (IBMM), Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC)-Université de Montpellier (UM)-Ecole Nationale Supérieure de Chimie de Montpellier (ENSCM), CHU Bordeaux [Bordeaux], Centre hospitalier universitaire de Nantes (CHU Nantes), Centre de Recherche en Cancérologie Nantes-Angers (CRCNA), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM)-Hôtel-Dieu de Nantes-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Laennec-Centre National de la Recherche Scientifique (CNRS)-Faculté de Médecine d'Angers-Centre hospitalier universitaire de Nantes (CHU Nantes)
Jazyk: angličtina
Rok vydání: 2015
Předmět:
Quality Assurance
Health Care
MPL
Computational biology
Biology
medicine.disease_cause
myeloproliferative neoplasms
molecular diagnostics
Exon
Polycythemia vera
polycythemia vera
hemic and lymphatic diseases
medicine
Humans
Digital polymerase chain reaction
Myelofibrosis
CALR
Genetics
Mutation
Myeloproliferative Disorders
essential thrombocythemia
Essential thrombocythemia
myeloproliferative neoplasms polycythemia vera essential thrombocythemia primary myelofibrosis molecular diagnostics JAK2 MPL CALR JAK2 V617F MUTATION EXON 12 MUTATIONS STEM-CELL TRANSPLANTATION TYPE-2 CALRETICULIN MUTATIONS POLYMERASE-CHAIN-REACTION TYROSINE KINASE JAK2 BEAD-BASED ASSAY REAL-TIME PCR POLYCYTHEMIA-VERA ESSENTIAL THROMBOCYTHEMIA
food and beverages
[SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology
Hematology
General Medicine
Exons
Janus Kinase 2
medicine.disease
Molecular diagnostics
3. Good health
Molecular Diagnostic Techniques
JAK2
primary myelofibrosis
Calreticulin
JAK2 V617F
Receptors
Thrombopoietin
Zdroj: European Journal of Haematology
European Journal of Haematology, Wiley, 2015, 95 (4), pp.270-279. ⟨10.1111/ejh.12578⟩
Langabeer, S E, Andrikovics, H, Asp, J, Bellosillo, B, Carillo, S, Haslam, K, Kjaer, L, Lippert, E, Mansier, O, Leibundgut, E O, Percy, M J, Porret, N, Palmqvist, L, Schwarz, J, McMullin, M F, Schnittger, S, Pallisgaard, N & Hermouet, S 2015, ' Molecular diagnostics of myeloproliferative neoplasms ', European Journal of Haematology, vol. 95, no. 4, pp. 270-279 . https://doi.org/10.1111/ejh.12578
ISSN: 0902-4441
1600-0609
DOI: 10.1111/ejh.12578⟩
Popis: International audience; Since the discovery of the JAK2 V617F mutation in the majority of the myeloproliferative neoplasms (MPN) of polycythemia vera, essential thrombocythemia and primary myelofibrosis ten years ago, further MPN-specific mutational events, notably in JAK2 exon 12, MPL exon 10 and CALR exon 9 have been identified. These discoveries have been rapidly incorporated into evolving molecular diagnostic algorithms. Whilst many of these mutations appear to have prognostic implications, establishing MPN diagnosis is of immediate clinical importance with selection, implementation and the continual evaluation of the appropriate laboratory methodology to achieve this diagnosis similarly vital. The advantages and limitations of these approaches in identifying and quantitating the common MPN-associated mutations are considered herein with particular regard to their clinical utility. The evolution of molecular diagnostic applications and platforms has occurred in parallel with the discovery of MPN-associated mutations, and it therefore appears likely that emerging technologies such as next-generation sequencing and digital PCR will in the future play an increasing role in the molecular diagnosis of MPN.
Databáze: OpenAIRE
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