Synergistic effect of concurrent high molecular risk mutations and lower JAK2 mutant variant allele frequencies on prognosis in patients with myelofibrosis-insights from a multicenter study.
Journal
Leukemia
ISSN: 1476-5551
Titre abrégé: Leukemia
Pays: England
ID NLM: 8704895
Informations de publication
Date de publication:
04 Oct 2024
04 Oct 2024
Historique:
received:
29
07
2024
accepted:
20
09
2024
revised:
18
09
2024
medline:
5
10
2024
pubmed:
5
10
2024
entrez:
4
10
2024
Statut:
aheadofprint
Résumé
In addition to high-molecular risk (HMR) mutations (ASXL1, EZH2, SRSF2, IDH, and U2AF1
Identifiants
pubmed: 39367172
doi: 10.1038/s41375-024-02422-4
pii: 10.1038/s41375-024-02422-4
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Ministry of Health and Welfare, Taiwan | Health Promotion Administration, Ministry of Health and Welfare (Health Promotion Administration of the Taiwan Ministry of Health and Welfare)
ID : MOHW 112-TDU-B-211-124001
Organisme : Ministry of Science and Technology, Taiwan (Ministry of Science and Technology of Taiwan)
ID : MOST 107-2314-B-002-013
Informations de copyright
© 2024. The Author(s), under exclusive licence to Springer Nature Limited.
Références
Khoury JD, Solary E, Abla O, Akkari Y, Alaggio R, Apperley JF, et al. The 5th edition of the World Health Organization Classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms. Leukemia. 2022;36:1703–19.
pubmed: 35732831
pmcid: 9252913
doi: 10.1038/s41375-022-01613-1
Arber DA, Orazi A, Hasserjian RP, Borowitz MJ, Calvo KR, Kvasnicka H-M, et al. International Consensus Classification of myeloid neoplasms and acute leukemias: integrating morphologic, clinical, and genomic data. Blood. 2022;140:1200–28.
pubmed: 35767897
pmcid: 9479031
doi: 10.1182/blood.2022015850
Tefferi A. Primary myelofibrosis: 2023 update on diagnosis, risk-stratification, and management. Am J Hematol. 2023;98:801–21.
pubmed: 36680511
doi: 10.1002/ajh.26857
Vannucchi AM, Lasho TL, Guglielmelli P, Biamonte F, Pardanani A, Pereira A, et al. Mutations and prognosis in primary myelofibrosis. Leukemia. 2013;27:1861–9.
pubmed: 23619563
doi: 10.1038/leu.2013.119
Rumi E, Pietra D, Pascutto C, Guglielmelli P, Martínez-Trillos A, Casetti I, et al. Clinical effect of driver mutations of JAK2, CALR, or MPL in primary myelofibrosis. Blood. 2014;124:1062–9.
pubmed: 24986690
pmcid: 4133481
doi: 10.1182/blood-2014-05-578435
Tefferi A, Nicolosi M, Mudireddy M, Szuber N, Finke CM, Lasho TL, et al. Driver mutations and prognosis in primary myelofibrosis: Mayo-Careggi MPN alliance study of 1095 patients. Am J Hematol. 2018;93:348–55.
pubmed: 29164670
doi: 10.1002/ajh.24978
Passamonti F, Mora B. Myelofibrosis. Blood. 2023;141:1954–70.
pubmed: 36416738
doi: 10.1182/blood.2022017423
Cervantes F, Dupriez B, Pereira A, Passamonti F, Reilly JT, Morra E, et al. New prognostic scoring system for primary myelofibrosis based on a study of the International Working Group for Myelofibrosis Research and Treatment. Blood. 2009;113:2895–901.
pubmed: 18988864
doi: 10.1182/blood-2008-07-170449
Passamonti F, Cervantes F, Vannucchi AM, Morra E, Rumi E, Pereira A, et al. A dynamic prognostic model to predict survival in primary myelofibrosis: a study by the IWG-MRT (International Working Group for Myeloproliferative Neoplasms Research and Treatment). Blood. 2010;115:1703–8.
pubmed: 20008785
doi: 10.1182/blood-2009-09-245837
Gangat N, Caramazza D, Vaidya R, George G, Begna K, Schwager S, et al. DIPSS plus: a refined Dynamic International Prognostic Scoring System for primary myelofibrosis that incorporates prognostic information from karyotype, platelet count, and transfusion status. J Clin Oncol. 2011;29:392–7.
pubmed: 21149668
doi: 10.1200/JCO.2010.32.2446
Guglielmelli P, Lasho TL, Rotunno G, Mudireddy M, Mannarelli C, Nicolosi M, et al. MIPSS70: mutation-enhanced international prognostic score system for transplantation-age patients with primary myelofibrosis. J Clin Oncol. 2018;36:310–8.
pubmed: 29226763
doi: 10.1200/JCO.2017.76.4886
Tefferi A, Guglielmelli P, Lasho TL, Gangat N, Ketterling RP, Pardanani A, et al. MIPSS70+ version 2.0: mutation and karyotype-enhanced international prognostic scoring system for primary myelofibrosis. J Clin Oncol. 2018;36:1769–70.
pubmed: 29708808
doi: 10.1200/JCO.2018.78.9867
Tefferi A, Guglielmelli P, Nicolosi M, Mannelli F, Mudireddy M, Bartalucci N, et al. GIPSS: genetically inspired prognostic scoring system for primary myelofibrosis. Leukemia. 2018;32:1631–42.
pubmed: 29654267
pmcid: 6035151
doi: 10.1038/s41375-018-0107-z
Guglielmelli P, Lasho TL, Rotunno G, Score J, Mannarelli C, Pancrazzi A, et al. The number of prognostically detrimental mutations and prognosis in primary myelofibrosis: an international study of 797 patients. Leukemia. 2014;28:1804–10.
pubmed: 24549259
doi: 10.1038/leu.2014.76
Tefferi A, Lasho TL, Finke CM, Elala Y, Hanson CA, Ketterling RP, et al. Targeted deep sequencing in primary myelofibrosis. Blood Adv. 2016;1:105–11.
pubmed: 29296803
pmcid: 5737166
doi: 10.1182/bloodadvances.2016000208
Tefferi A, Finke CM, Lasho TL, Hanson CA, Ketterling RP, Gangat N, et al. U2AF1 mutation types in primary myelofibrosis: phenotypic and prognostic distinctions. Leukemia. 2018;32:2274–8.
pubmed: 29535431
pmcid: 6170397
doi: 10.1038/s41375-018-0078-0
Luque Paz D, Riou J, Verger E, Cassinat B, Chauveau A, Ianotto J-C, et al. Genomic analysis of primary and secondary myelofibrosis redefines the prognostic impact of ASXL1 mutations: a FIM study. Blood Adv. 2021;5:1442–51.
pubmed: 33666653
pmcid: 7948260
doi: 10.1182/bloodadvances.2020003444
Guglielmelli P, Coltro G, Mannelli F, Rotunno G, Loscocco GG, Mannarelli C, et al. ASXL1 mutations are prognostically significant in PMF, but not MF following essential thrombocythemia or polycythemia vera. Blood Adv. 2022;6:2927–31.
pubmed: 35020812
pmcid: 9092422
doi: 10.1182/bloodadvances.2021006350
Tefferi A, Lasho TL, Huang J, Finke C, Mesa RA, Li CY, et al. Low JAK2V617F allele burden in primary myelofibrosis, compared to either a higher allele burden or unmutated status, is associated with inferior overall and leukemia-free survival. Leukemia. 2008;22:756–61.
pubmed: 18216871
doi: 10.1038/sj.leu.2405097
Guglielmelli P, Barosi G, Specchia G, Rambaldi A, Lo Coco F, Antonioli E, et al. Identification of patients with poorer survival in primary myelofibrosis based on the burden of JAK2V617F mutated allele. Blood. 2009;114:1477–83.
pubmed: 19549988
doi: 10.1182/blood-2009-04-216044
Vannucchi AM, Pieri L, Guglielmelli P. JAK2 allele burden in the myeloproliferative neoplasms: effects on phenotype, prognosis and change with treatment. Ther Adv Hematol. 2011;2:21–32.
pubmed: 23556073
pmcid: 3573388
doi: 10.1177/2040620710394474
Wang YH, Lin CC, Lee SH, Tsai CH, Wu SJ, Hou HA, et al. ASXL1 mutation confers poor prognosis in primary myelofibrosis patients with low JAK2V617F allele burden but not in those with high allele burden. Blood Cancer J. 2020;10:99.
pubmed: 33046688
pmcid: 7550588
doi: 10.1038/s41408-020-00364-5
Wiseman DH, Williams EL, Wilks DP, Sun Leong H, Somerville TDD, Dennis MW, et al. Frequent reconstitution of IDH2R140Q mutant clonal multilineage hematopoiesis following chemotherapy for acute myeloid leukemia. Leukemia. 2016;30:1946–50.
pubmed: 27118404
pmcid: 5010144
doi: 10.1038/leu.2016.93
Kröger N, Wolschke C, Gagelmann N. How I treat transplant-eligible patients with myelofibrosis. Blood. 2023;142:1683–96.
pubmed: 37647853
doi: 10.1182/blood.2023021218
Barosi G, Poletto V, Massa M, Campanelli R, Villani L, Bonetti E, et al. JAK2 V617F genotype is a strong determinant of blast transformation in primary myelofibrosis. PLoS ONE. 2013;8:e59791.
pubmed: 23555782
pmcid: 3608564
doi: 10.1371/journal.pone.0059791
Kishtagari A, Khan MAW, Li Y, Vlasschaert C, Marneni N, Silver AJ, et al. Driver mutation zygosity is a critical factor in predicting clonal hematopoiesis transformation risk. Blood Cancer J. 2024;14:6.
pubmed: 38225345
pmcid: 10789770
doi: 10.1038/s41408-023-00974-9
Sallman DA, Padron E. Integrating mutation variant allele frequency into clinical practice in myeloid malignancies. Hematol Oncol Stem Cell Ther. 2016;9:89–95.
pubmed: 27187622
doi: 10.1016/j.hemonc.2016.04.003
Beer PA, Delhommeau F, LeCouédic JP, Dawson MA, Chen E, Bareford D, et al. Two routes to leukemic transformation after a JAK2 mutation-positive myeloproliferative neoplasm. Blood. 2010;115:2891–900.
pubmed: 20008300
doi: 10.1182/blood-2009-08-236596
Maslah N, Benajiba L, Giraudier S, Kiladjian J-J, Cassinat B. Clonal architecture evolution in myeloproliferative neoplasms: from a driver mutation to a complex heterogeneous mutational and phenotypic landscape. Leukemia. 2023;37:957–63.
pubmed: 37002477
pmcid: 10169637
doi: 10.1038/s41375-023-01886-0
Grinfeld J, Nangalia J, Baxter EJ, Wedge DC, Angelopoulos N, Cantrill R, et al. Classification and personalized prognosis in myeloproliferative neoplasms. N Engl J Med. 2018;379:1416–30.
pubmed: 30304655
pmcid: 7030948
doi: 10.1056/NEJMoa1716614
Miles LA, Bowman RL, Merlinsky TR, Csete IS, Ooi AT, Durruthy-Durruthy R, et al. Single-cell mutation analysis of clonal evolution in myeloid malignancies. Nature. 2020;587:477–82.
pubmed: 33116311
pmcid: 7677169
doi: 10.1038/s41586-020-2864-x
Calabresi L, Carretta C, Romagnoli S, Rotunno G, Parenti S, Bertesi M, et al. Clonal dynamics and copy number variants by single-cell analysis in leukemic evolution of myeloproliferative neoplasms. Am J Hematol. 2023;98:1520–31.
pubmed: 37399248
doi: 10.1002/ajh.27013
Zhao L-P, Cazaux M, Maslah N, Daltro De Oliveira R, Verger E, Soret-Dulphy J, et al. Myeloproliferative neoplasms (MPN) clonal evolution landscape and its impact on patients’ prognosis. Blood. 2021;138:317.
doi: 10.1182/blood-2021-149473
Luque Paz D, Bader MS, Nienhold R, Rai S, Almeida Fonseca T, Stetka J, et al. Impact of clonal architecture on clinical course and prognosis in patients with myeloproliferative neoplasms. Hemasphere. 2023;7:e885.
pubmed: 37153874
pmcid: 10158927
doi: 10.1097/HS9.0000000000000885
Williams N, Lee J, Mitchell E, Moore L, Baxter EJ, Hewinson J, et al. Life histories of myeloproliferative neoplasms inferred from phylogenies. Nature. 2022;602:162–8.
pubmed: 35058638
doi: 10.1038/s41586-021-04312-6
Harrison CN, Vannucchi AM, Kiladjian JJ, Al-Ali HK, Gisslinger H, Knoops L, et al. Long-term findings from COMFORT-II, a phase 3 study of ruxolitinib vs best available therapy for myelofibrosis. Leukemia. 2016;30:1701–7.
pubmed: 27211272
pmcid: 5399157
doi: 10.1038/leu.2016.148
Kiladjian J-J, Ianotto J-C, Soret J, Maslah N, Chaffaut C, Boyer perrard F, et al. Final results of Ruxopeg, a phase 1/2 adaptive randomized trial of ruxolitinib (Rux) and pegylated interferon alpha (IFNa) 2a in patients with myelofibrosis (MF). Blood. 2022;140:577–8.
doi: 10.1182/blood-2022-156389
Pemmaraju N, Garcia JS, Potluri J, Harb JG, Sun Y, Jung P, et al. Addition of navitoclax to ongoing ruxolitinib treatment in patients with myelofibrosis (REFINE): a post-hoc analysis of molecular biomarkers in a phase 2 study. Lancet Haematol. 2022;9:e434–e44.
pubmed: 35576960
doi: 10.1016/S2352-3026(22)00116-8
Chifotides HT, Verstovsek S, Bose P. Association of myelofibrosis phenotypes with clinical manifestations, molecular profiles, and treatments. Cancers. 2023;15:3331.
pubmed: 37444441
pmcid: 10340291
doi: 10.3390/cancers15133331
Passamonti F, Rumi E, Pietra D, Elena C, Boveri E, Arcaini L, et al. A prospective study of 338 patients with polycythemia vera: the impact of JAK2 (V617F) allele burden and leukocytosis on fibrotic or leukemic disease transformation and vascular complications. Leukemia. 2010;24:1574–9.
pubmed: 20631743
doi: 10.1038/leu.2010.148
Loscocco GG, Guglielmelli P, Gangat N, Rossi E, Mannarelli C, Betti S, et al. Clinical and molecular predictors of fibrotic progression in essential thrombocythemia: a multicenter study involving 1607 patients. Am J Hematol. 2021;96:1472–80.
pubmed: 34424575
pmcid: 9293196
doi: 10.1002/ajh.26332
Campbell PJ, Green AR. The myeloproliferative disorders. N Engl J Med. 2006;355:2452–66.
pubmed: 17151367
doi: 10.1056/NEJMra063728