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'Myelofibrosis': [95], '(PMF)': [96], '(Tefferi': [97, 222], '&': [98], 'Vardiman,': [99], '2008).': [100], 'However,': [101, 886, 927, 989], 'many': [102, 810], 'with': [104, 111, 232, 358, 364, 478, 502, 600, 622, 710, 729, 951], 'ET': [105, 144, 217, 335, 439, 458], 'PMF': [107, 221, 339], '(and': [108], 'a': [109, 185, 259, 313, 359, 449, 522, 529, 593, 614, 695, 717, 730, 802, 933, 936, 978], 'few': [110], 'PV)': [112], 'do': [113, 164], 'not': [114, 165, 172, 609, 879], 'carry': [115], 'mutation.': [119, 719, 964], 'Other': [120], 'mutations': [121, 131, 140, 151, 156, 180, 195, 296, 308, 378, 413, 430, 516, 827, 834, 841, 849, 857, 881, 931], 'have': [122, 157, 227, 517, 813, 861, 895, 1076], 'been': [123, 159, 229, 518, 551, 814, 940], 'identified,': [124], 'exon': [129, 374], '12': [130, 375], '1%': [133], 'PV': [135, 331, 456, 488, 512, 585], 'MPL': [138, 286, 307, 327, 377, 908], 'gene': [139, 203, 272, 412], '5–10%': [142], 'PMF.': [146], 'In': [147, 557, 620, 701], 'cases': [149], 'exclusive.': [153], 'Several': [154, 668], 'other': [155, 189, 606, 912, 997], 'also': [158, 182, 228, 550], 'identified': [160, 177, 625], 'that': [163, 248, 274, 819, 911, 968, 1017], 'affect': [166], 'signalling': [167, 829], 'pathways': [168, 830], 'regulators': [169], 'exclusive': [173], 'previously': [176, 389], 'mutations.': [178, 287, 328, 926], 'These': [179], 'found': [183, 415, 1000], 'significant': [186], 'proportion': [187], 'myeloid': [190], 'malignancies.': [191], 'prevalent': [194], 'category': [198], 'TET2': [202, 295, 400, 411, 450, 475, 500, 515, 564, 597, 718, 759, 777, 880, 888, 925, 952, 972, 1044], '(Delhommeau': [204, 532], '2009),': [207, 225, 535], 'which': [208, 271, 355, 678, 761, 1068], 'present': [210, 289, 583], '16%': [212], 'PV,': [214, 437, 479], '5%': [215], '17%': [219], 'reported': [230, 410, 519, 552, 815], 'together': [231], 'SVT': [236, 350, 442, 623, 711, 756, 767, 774], '(Colaizzo': [238], '2010).': [241, 556], 'As': [242], 'last': [244], 'WHO': [245, 463], 'stated': [247], 'one': [249, 438, 480], 'major': [250], 'criterion': [251], 'diagnosis': [254, 299, 454, 489, 510, 586, 649, 946, 986], 'was': [255, 330, 379, 403, 566, 581, 589, 781, 1069], 'presence': [257, 447, 497, 561], 'equivalent,': [267], 'an': [268, 630, 679, 779, 798, 868], 'unsolved': [269], 'question': [270], 'alterations': [273, 914], 'be': [276, 521, 634, 662, 672, 821, 864, 916, 975, 992], 'addition': [282, 923], 'study': [290, 894, 966, 1063], 'assessed': [291], 'role': [293], 'different': [301], 'subtypes': [303], 'when': [304, 638], 'missing.': [310], 'We': [311, 1024], 'studied': [312], 'cohort': [314], '50': [316, 422], 'suspected': [318, 782], 'but': [321, 536, 712, 733, 793, 878], 'negative': [322], 'both': [324], 'Diagnosis': [329], '(n': [332, 336, 340, 351], '=': [333, 337, 341, 352], '10),': [334], '12),': [338], '5)': [342], 'suspicion': [344], 'latent': [346], 'revealed': [348], '23)': [353], 'among': [354, 677], 'six': [356], 'presented': [357, 728, 891], 'Budd-Chiari': [360], 'Syndrom': [361], '17': [363], 'Portal': [365], 'Vein': [366], 'thrombosis.': [367, 725], 'detection': [369, 970], 'V617F,': [372], 'performed': [380, 1047], 'on': [381, 687, 784], 'DNA': [382], 'extracted': [383], 'from': [384, 858, 1020], 'peripheral': [385], 'blood': [386, 640], 'leucocytes': [387], 'described': [390], '(Kouroupi': [391], '2012).': [394], 'entire': [396], 'coding': [397], 'sequence': [398], '(11': [401], 'exons)': [402], 'analysed': [404, 1052], 'direct': [406], 'Sanger': [407], 'sequencing.': [408, 1045], 'Previously': [409], 'were': [414, 433], '5': [417], '(10%)': [418], 'out': [419, 636, 705], 'analysed.': [424], 'Four': [425], 'missense': [426], '1': [428, 860], 'nonsense': [429], '(Fig': [431, 513, 602], '1A)': [432], 'detected': [434], 'two': [436, 441, 474, 704], '(Table': [444], '1).': [445], 'reinforced': [452], '(already': [459], 'made': [460], 'using': [461], 'minor': [464], 'criteria)': [465], 'Patients': [467], '44,': [468], '46': [469], '49.': [471], 'Of': [472], 'mutated': [476, 811, 889, 1001], 'secondarily': [481], 'evolved': [482], '6': [485, 748], 'years': [486, 751], 'after': [487, 613, 747, 801], '(Patient': [490], '46).': [491], 'A': [492], 'retrospective': [493], 'analysis': [494], 'demonstrated': [495], 'same': [504], 'mutant': [505, 598], 'allele': [506], 'burden': [507], 'since': [508], '1B).': [514, 603], 'pre-JAK2': [523], 'event,': [524], 'preceding': [525], 'appearance': [527], 'phenotype': [531, 870, 921], 'their': [537, 1040], 'later': [538], 'acquisition,': [539], 'at': [540, 584], 'time': [542, 601], 'leukaemia,': [548], '(Schaub': [553], 'study,': [559, 703], 'unrelated': [567], 'as,': [571], 'only': [574], 'patient': [575], 'who': [576], 'developed': [577, 797], 'myelofibrosis,': [578], 'already': [582], 'there': [588], 'no': [590, 713, 1077], 'evidence': [591], 'progression': [594], 'clone': [599], 'four': [605, 824], 'had': [608, 716, 722], 'transformed': [610], 'median': [615, 803], 'follow-up': [616, 753, 804], '86': [618], 'months.': [619, 807], 'without': [624, 776], 'risk': [626], 'factor': [627], 'underlying': [631], 'must': [633], 'ruled': [635], 'even': [637], 'cell': [641, 682, 736, 790], 'counts': [642], 'within': [644], 'normal': [646, 731, 739], 'ranges.': [647], 'modify': [654], 'therapeutic': [656], 'options,': [657], 'cytoreductive': [659], 'therapy': [660], 'considered': [663], 'avoid': [665], 'thrombotic': [666], 'recurrences.': [667], 'biological': [669], 'investigations': [670], 'conducted': [673], 'diagnose': [675], 'MPN,': [676], 'elevated': [680, 734], 'red': [681, 735, 789], 'mass,': [683], 'typical': [684], 'features': [686, 897], 'bone': [688, 785], 'marrow': [689, 786], 'biopsy': [690], 'identification': [693], 'strongest': [699], 'evidences.': [700], 'our': [702], '23': [707], 'presenting': [709], 'overt': [714, 744, 799], 'Both': [720], 'portal': [723], 'Patient': [726], '7': [727], 'haematocrit': [732], 'mass': [737, 791], 'circulating': [740], 'erythropoietin': [741], 'levels.': [742], 'No': [743], 'appeared': [746], '8': [750], 'harbouring': [758], 'mutations,': [760, 909], 'frequently': [763], 'observed': [764], 'JAK2-mutated': [766], 'well.': [770], 'Among': [771], '21': [773], 'based': [783], 'examination': [787], 'and/or': [788], 'measurement': [792], 'none': [794], 'them': [796], '54': [806], 'To': [808], 'date,': [809], 'genes': [812, 998], 'can': [820], 'classified': [822], 'into': [823], 'groups:': [825], '(i)': [826], 'altering': [828, 835, 842, 850], '(JAK2,': [831], 'MPL)': [832], '(ii)': [833], 'spliceosome': [837], '(SF3B1,': [838], 'SRSF2)': [839], '(iii)': [840], 'epigenetics': [843], '(TET2,': [844], 'EZH2,': [845], 'ASXL1,': [846], 'SUZ12…)': [847], '(iv)': [848], 'oncogenes': [851], '(P53,': [852], 'N-RAS,': [853], 'K-RAS…).': [854], 'Only': [855], 'Group': [859], 'proven': [862], 'able': [865], 'confer': [867], 'animal': [872], 'models': 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'Riant': [1034], 'Laura': [1037], 'Llopis': [1038], 'precious': [1041], 'EV': [1046], 'analyses,': [1050], 'AA': [1051], 'data,': [1054], 'CC': [1055], 'provided': [1056], 'samples,': [1057], 'BC': [1058], 'JJK': [1060], 'designed': [1061], 'wrote': [1065], 'manuscript,': [1067], 'reviewed': [1070], 'all': [1072], 'authors.': [1074], 'Authors': [1075], 'conflict': [1078], 'interest': [1080], 'disclose.': [1082]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2052330394', 'counts_by_year': [{'year': 2021, 'cited_by_count': 1}], 'updated_date': '2024-12-08T10:23:33.173997', 'created_date': '2016-06-24'}