Clonal architecture evolution in Myeloproliferative Neoplasms: from … – Nature.com

Abu-Zeinah G, Krichevsky S, Cruz T, Hoberman G, Jaber D, Savage N, et al. Interferon-alpha for treating polycythemia vera yields improved myelofibrosis-free and overall survival. Leukemia. 2021;35:2592601.

Article CAS PubMed PubMed Central Google Scholar

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;379:141630.

Article CAS PubMed PubMed Central Google Scholar

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 J Am Soc Clin Oncol. 2018;36:3108.

Article CAS Google Scholar

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 J Am Soc Clin Oncol. 2018;36:176970.

Article Google Scholar

Gagelmann N, Ditschkowski M, Bogdanov R, Bredin S, Robin M, Cassinat B, et al. Comprehensive clinical-molecular transplant scoring system for myelofibrosis undergoing stem cell transplantation. Blood. 2019;133:223342.

Article CAS PubMed Google Scholar

Jaiswal S, Fontanillas P, Flannick J, Manning A, Grauman PV, Mar BG, et al. Age-related clonal hematopoiesis associated with adverse outcomes. N. Engl J Med. 2014;371:248898.

Article PubMed PubMed Central Google Scholar

Genovese G, Khler AK, Handsaker RE, Lindberg J, Rose SA, Bakhoum SF, et al. Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. N. Engl J Med. 2014;371:247787.

Article PubMed PubMed Central Google Scholar

Nielsen C, Bojesen SE, Nordestgaard BG, Kofoed KF, Birgens HS. JAK2V617F somatic mutation in the general population: myeloproliferative neoplasm development and progression rate. Haematologica. 2014;99:144855.

Article CAS PubMed PubMed Central Google Scholar

McKerrell T, Park N, Chi J, Collord G, Moreno T, Ponstingl H, et al. JAK2 V617F hematopoietic clones are present several years prior to MPN diagnosis and follow different expansion kinetics. Blood Adv. 2017;1:96871.

Article CAS PubMed PubMed Central Google Scholar

Hirsch P, Mamez AC, Belhocine R, Lapusan S, Tang R, Suner L, et al. Clonal history of a cord blood donor cell leukemia with prenatal somatic JAK2 V617F mutation. Leukemia. 2016;30:17569.

Article CAS PubMed Google Scholar

Van Egeren D, Escabi J, Nguyen M, Liu S, Reilly CR, Patel S, et al. Reconstructing the lineage histories and differentiation trajectories of individual cancer cells in myeloproliferative neoplasms. Cell Stem Cell. 2021;28:514523.e9.

Article PubMed PubMed Central Google Scholar

Williams N, Lee J, Mitchell E, Moore L, Baxter EJ, Hewinson J, et al. Life histories of myeloproliferative neoplasms inferred from phylogenies. Nature. 2022;602:1628.

Article CAS PubMed Google Scholar

Sousos N, N Leathlobhair M, Simoglou Karali C, Louka E, Bienz N, Royston D, et al. In utero origin of myelofibrosis presenting in adult monozygotic twins. Nat Med. 2022;28:120711.

Article CAS PubMed PubMed Central Google Scholar

Hermange G, Rakotonirainy A, Bentriou M, Tisserand A, El-Khoury M, Girodon F, et al. Inferring the initiation and development of myeloproliferative neoplasms. Proc Natl Acad Sci. 2022;119:e2120374119.

Article PubMed PubMed Central Google Scholar

Mead AJ, Mullally A. Myeloproliferative neoplasm stem cells. Blood. 2017;129:160716.

Article CAS PubMed PubMed Central Google Scholar

Abdel-Wahab O, Manshouri T, Patel J, Harris K, Yao J, Hedvat C, et al. Genetic analysis of transforming events that convert chronic myeloproliferative neoplasms to leukemias. Cancer Res. 2010;70:44752.

Article CAS PubMed PubMed Central Google Scholar

Schaub FX, Looser R, Li S, Hao-Shen H, Lehmann T, Tichelli A, et al. Clonal analysis of TET2 and JAK2 mutations suggests that TET2 can be a late event in the progression of myeloproliferative neoplasms. Blood. 2010;115:20037.

Article CAS PubMed Google Scholar

Lundberg P, Karow A, Nienhold R, Looser R, Hao-Shen H, Nissen I, et al. Clonal evolution and clinical correlates of somatic mutations in myeloproliferative neoplasms. Blood. 2014;123:22208.

Article CAS PubMed Google Scholar

Ortmann CA, Kent DG, Nangalia J, Silber Y, Wedge DC, Grinfeld J, et al. Effect of mutation order on myeloproliferative neoplasms. N. Engl J Med. 2015;372:60112.

Article PubMed PubMed Central Google Scholar

Vannucchi AM, Lasho TL, Guglielmelli P, Biamonte F, Pardanani A, Pereira A, et al. Mutations and prognosis in primary myelofibrosis. Leukemia. 2013;27:18619.

Article CAS PubMed Google Scholar

Rampal R, Ahn J, Abdel-Wahab O, Nahas M, Wang K, Lipson D, et al. Genomic and functional analysis of leukemic transformation of myeloproliferative neoplasms. Proc Natl Acad Sci USA. 2014;111:E54015410.

Article CAS PubMed PubMed Central Google Scholar

Harutyunyan A, Klampfl T, Cazzola M, Kralovics R. p53 lesions in leukemic transformation. N. Engl J Med. 2011;364:48890.

Article CAS PubMed Google Scholar

Coltro G, Rotunno G, Mannelli L, Mannarelli C, Fiaccabrino S, Romagnoli S, et al. RAS/CBL mutations predict resistance to JAK inhibitors in myelofibrosis and are associated with poor prognostic features. Blood Adv. 2020;4:367787.

Article CAS PubMed PubMed Central Google Scholar

Santos FP, Getta B, Masarova L, Famulare C, Schulman J, Datoguia TS, et al. Prognostic Impact of RAS pathway mutations in Patients with Myelofibrosis. Leukemia. 2020;34:799810.

Article CAS PubMed Google Scholar

Marcault C, Zhao LP, Maslah N, Verger E, Daltro De Oliveira R, Soret-Dulphy J, et al. Impact of NFE2 mutations on AML transformation and overall survival in patients with myeloproliferative neoplasms (MPN). Blood 2021; https://doi.org/10.1182/blood.2020010402.

Tefferi A, Guglielmelli P, Lasho TL, Coltro G, Finke CM, Loscocco GG, et al. Mutation-enhanced international prognostic systems for essential thrombocythaemia and polycythaemia vera. Br J Haematol. 2020;189:291302.

Article CAS PubMed Google Scholar

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;28:180410.

Article CAS PubMed Google Scholar

Tefferi A, Lasho TL, Finke C, Elala Y, Barraco D, Hanson CA, et al. Targeted next-generation sequencing in polycythemia vera and essential Thrombocythemia. Blood. 2015;126:354.

Article Google Scholar

Sashida G, Wang C, Tomioka T, Oshima M, Aoyama K, Kanai A, et al. The loss of Ezh2 drives the pathogenesis of myelofibrosis and sensitizes tumor-initiating cells to bromodomain inhibition. J Exp Med. 2016;213:145977.

Article CAS PubMed PubMed Central Google Scholar

Alvarez-Larrn A, Daz-Gonzlez A, Such E, Mora E, Andrade-Campos M, Garca-Hernndez C, et al. Genomic characterization of patients with polycythemia vera developing resistance to hydroxyurea. Leukemia. 2021;35:6237.

Article PubMed Google Scholar

Jayavelu AK, Schnder TM, Perner F, Herzog C, Meiler A, Krishnamoorthy G, et al. Splicing factor YBX1 mediates persistence of JAK2-mutated neoplasms. Nature. 2020;588:15763.

Article PubMed Google Scholar

Ernst P, Schnder TM, Huber N, Perner F, Jayavelu AK, Eifert T, et al. Histone demethylase KDM4C is a functional dependency in JAK2-mutated neoplasms. Leukemia. 2022;36:18439.

Article CAS PubMed PubMed Central Google Scholar

Staehle AM, Peeken JC, Vladimirov G, Hoeness ME, Bojtine Kovacs S, Karantzelis N, et al. The histone demethylase JMJD2C constitutes a novel NFE2 target gene that is required for the survival of JAK2V617F mutated cells. Leukemia 2023; https://doi.org/10.1038/s41375-023-01826-y.

Wright NA. Boveri at 100: cancer evolution, from preneoplasia to malignancy. J Pathol. 2014;234:14651.

Article PubMed Google Scholar

Anderson K, Lutz C, van Delft FW, Bateman CM, Guo Y, Colman SM, et al. Genetic variegation of clonal architecture and propagating cells in leukaemia. Nature. 2011;469:35661.

Article CAS PubMed Google Scholar

Ding L, Ley TJ, Larson DE, Miller CA, Koboldt DC, Welch JS, et al. Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing. Nature. 2012;481:50610.

Article CAS PubMed PubMed Central Google Scholar

Welch JS, Ley TJ, Link DC, Miller CA, Larson DE, Koboldt DC, et al. The origin and evolution of mutations in acute myeloid leukemia. Cell. 2012;150:26478.

Article CAS PubMed PubMed Central Google Scholar

van Galen P, Hovestadt V, Wadsworth Ii MH, Hughes TK, Griffin GK, Battaglia S, et al. Single-cell RNA-Seq reveals AML hierarchies relevant to disease progression and immunity. Cell. 2019;176:12651281.e24.

Article PubMed PubMed Central Google Scholar

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;587:47782.

Article CAS PubMed PubMed Central Google Scholar

Maslah N, Verger E, Giraudier S, Chea M, Hoffman R, Mascarenhas J, et al. Single-cell analysis reveals selection of TP53-mutated clones after MDM2 inhibition. Blood Adv 2022; https://doi.org/10.1182/bloodadvances.2021005867.

Beer PA, Delhommeau F, LeCoudic J-P, Dawson MA, Chen E, Bareford D, et al. Two routes to leukemic transformation after a JAK2 mutation-positive myeloproliferative neoplasm. Blood. 2010;115:28912900.

Article CAS PubMed Google Scholar

Kennedy AL, Myers KC, Bowman J, Gibson CJ, Camarda ND, Furutani E, et al. Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome. Nat Commun. 2021;12:1334.

Article CAS PubMed PubMed Central Google Scholar

Sahoo SS, Pastor VB, Goodings C, Voss RK, Kozyra EJ, Szvetnik A, et al. Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes. Nat Med. 2021;27:180617.

Article CAS PubMed PubMed Central Google Scholar

Morita K, Wang F, Jahn K, Hu T, Tanaka T, Sasaki Y, et al. Clonal evolution of acute myeloid leukemia revealed by high-throughput single-cell genomics. Nat Commun. 2020;11:5327.

Article CAS PubMed PubMed Central Google Scholar

Taylor J, Mi X, North K, Binder M, Penson A, Lasho T, et al. Single-cell genomics reveals the genetic and molecular bases for escape from mutational epistasis in myeloid neoplasms. Blood. 2020;136:147786.

Article PubMed PubMed Central Google Scholar

Guess T, Potts CR, Bhat P, Cartailler JA, Brooks A, Holt C, et al. Distinct patterns of clonal evolution drive myelodysplastic syndrome progression to secondary acute myeloid leukemia. Blood Cancer Discov. 2022;3:31629.

Article CAS PubMed PubMed Central Google Scholar

Thompson ER, Nguyen T, Kankanige Y, Yeh P, Ingbritsen M, McBean M, et al. Clonal independence of JAK2 and CALR or MPL mutations in comutated myeloproliferative neoplasms demonstrated by single-cell DNA sequencing. Haematologica. 2021;106:3135.

Article PubMed Google Scholar

Rodriguez-Meira A, Buck G, Clark S-A, Povinelli BJ, Alcolea V, Louka E, et al. Unravelling Intratumoral Heterogeneity through High-Sensitivity Single-Cell Mutational Analysis and Parallel RNA Sequencing. Mol Cell. 2019;73:12921305.e8.

Article CAS PubMed PubMed Central Google Scholar

Psaila B, Wang G, Rodriguez-Meira A, Li R, Heuston EF, Murphy L, et al. Single-cell analyses reveal megakaryocyte-biased hematopoiesis in myelofibrosis and identify mutant clone-specific targets. Mol Cell. 2020;78:477492.e8.

Article CAS PubMed PubMed Central Google Scholar

Giustacchini A, Thongjuea S, Barkas N, Woll PS, Povinelli BJ, Booth CAG, et al. Single-cell transcriptomics uncovers distinct molecular signatures of stem cells in chronic myeloid leukemia. Nat Med. 2017;23:692702.

Article CAS PubMed Google Scholar

Rodriguez-Meira A, Norfo R, Wen WX, Chdeville AL, Rahman H, OSullivan J, et al. Deciphering TP53 mutant Cancer evolution with single-cell multi-omics. 2022; https://doi.org/10.1101/2022.03.28.485984.

Nam AS, Kim K-T, Chaligne R, Izzo F, Ang C, Taylor J, et al. Somatic mutations and cell identity linked by Genotyping of Transcriptomes. Nature. 2019;571:35560.

Article CAS PubMed PubMed Central Google Scholar

Originally posted here:
Clonal architecture evolution in Myeloproliferative Neoplasms: from ... - Nature.com

Related Posts