BCR::ABL1-negative myeloproliferative neoplasms in the era of next-generation sequencing

被引：4

作者：

Mroczkowska-Bekarciak, Aleksandra ^{[1
]}

Wrobel, Tomasz ^{[1
]}

机构：

[1] Wroclaw Med Univ, Dept Hematol Blood Neoplasms & Bone Marrow Transpl, Wroclaw, Poland

来源：

FRONTIERS IN GENETICS | 2023年 / 14卷

关键词：

hematooncology; myeloproliferative neoplasms; gene mutations; next-generation sequencing; polycythemia vera; essential thrombocythemia; myelofibrosis; INTERNATIONAL PROGNOSTIC SCORE; JAK2V617F ALLELE BURDEN; TYROSINE KINASE JAK2; NON-DRIVER MUTATIONS; ESSENTIAL THROMBOCYTHEMIA; POLYCYTHEMIA-VERA; PRIMARY MYELOFIBROSIS; THROMBOPOIETIN RECEPTOR; CALRETICULIN MUTATIONS; CALR MUTATIONS;

D O I：

10.3389/fgene.2023.1241912

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The classical BCR::ABL1-negative myeloproliferative neoplasms such as polycythemia vera (PV), essential thrombocythemia (ET), and myelofibrosis (MF) are clonal diseases with the presence of characteristic "driver mutations" in one of the genes: JAK2, CALR, or MPL. The search for mutations in these three genes is required for the diagnosis of MPNs. Nevertheless, the progress that has been made in the field of molecular genetics has opened a new era in medicine. The search for additional mutations in MPNs is helpful in assessing the risk stratification, disease progression, transformation to acute myeloid leukemia (AML), or choosing the right treatment. In some cases, advanced technologies are needed to find a clonal marker of the disease and establish a diagnosis. This review focuses on how the use of new technologies like next-generation sequencing (NGS) helps in the diagnosis of BCR::ABL1-negative myeloproliferative neoplasms.

引用

页数：11

共 93 条

[41] Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis [J].

Levine, RL ;

Wadleigh, M ;

Cools, J ;

Ebert, BL ;

Wernig, G ;

Huntly, BJP ;

Boggon, TJ ;

Wlodarska, L ;

Clark, JJ ;

Moore, S ;

Adelsperger, J ;

Koo, S ;

Lee, JC ;

Gabriel, S ;

Mercher, T ;

D'Andrea, A ;

Fröhling, S ;

Döhner, K ;

Marynen, P ;

Vandenberghe, P ;

Mesa, RA ;

Tefferi, A ;

Griffin, JD ;

Eck, MJ ;

Sellers, WR ;

Meyerson, M ;

Golub, TR ;

Lee, SJ ;

Gilliland, DG .

CANCER CELL, 2005, 7 (04) :387-397

[42] Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists [J].

Li, Marilyn M. ;

Datto, Michael ;

Duncavage, Eric J. ;

Kulkarni, Shashikant ;

Lindeman, Neal I. ;

Roy, Somak ;

Tsimberidou, Apostolia M. ;

Vnencak-Jones, Cindy L. ;

Wolff, Daynna J. ;

Younes, Anas ;

Nikiforova, Marina N. .

JOURNAL OF MOLECULAR DIAGNOSTICS, 2017, 19 (01) :4-23

[43] A comparison of qPCR and ddPCR used for quantification of the JAK2 V617F allele burden in Ph negative MPNs [J].

Link-Lenczowska, Dorota ;

Pallisgaard, Niels ;

Cordua, Sabrina ;

Zawada, Magdalena ;

Czekalska, Sylwia ;

Krochmalczyk, Dorota ;

Kandula, Zuzanna ;

Sacha, Tomasz .

ANNALS OF HEMATOLOGY, 2018, 97 (12) :2299-2308

[44] Study of JAK2 V617F allele Burden By Droplet Digital PCR in BCR-ABL1 Negative Myeloproliferative Neoplasms and Its Implications on Disease Phenotype [J].

Loomila, L. ;

Naseem, Shano ;

Rastogi, Pulkit ;

Jain, Arihant ;

Malhotra, Pankaj .

BLOOD, 2022, 140 :12270-12270

[45] Integration of Molecular Information in Risk Assessment of Patients with Myeloproliferative Neoplasms [J].

Loscocco, Giuseppe G. ;

Coltro, Giacomo ;

Guglielmelli, Paola ;

Vannucchi, Alessandro M. .

CELLS, 2021, 10 (08)

[46] Clinical and molecular predictors of fibrotic progression in essential thrombocythemia: A multicenter study involving 1607 patients [J].

Loscocco, Giuseppe G. ;

Guglielmelli, Paola ;

Gangat, Naseema ;

Rossi, Elena ;

Mannarelli, Carmela ;

Betti, Silvia ;

Maccari, Chiara ;

Ramundo, Francesco ;

Jadoon, Yamna ;

Gesullo, Francesca ;

Ceglie, Sara ;

Paoli, Chiara ;

Pardanani, Animesh ;

De Stefano, Valerio ;

Tefferi, Ayalew ;

Vannucchi, Alessandro M. .

AMERICAN JOURNAL OF HEMATOLOGY, 2021, 96 (11) :1472-1480

[47] Impact of Mutational Profile on the Management of Myeloproliferative Neoplasms: A Short Review of the Emerging Data [J].

Loscocco, Giuseppe G. ;

Guglielmelli, Paola ;

Vannucchi, Alessandro M. .

ONCOTARGETS AND THERAPY, 2020, 13 :12367-12382

[48] Leukemic evolution of polycythemia vera and essential thrombocythemia: genomic profiles predict time to transformation [J].

Luque Paz, Damien ;

Jouanneau-Courville, Rebecca ;

Riou, Jeremie ;

Ianotto, Jean-Christophe ;

Boyer, Francoise ;

Chauveau, Aurelie ;

Renard, Maxime ;

Chomel, Jean-Claude ;

Cayssials, Emilie ;

Gallego-Hernanz, Maria-Pilar ;

Pastoret, Cedric ;

Murati, Anne ;

Courtier, Frederic ;

Rousselet, Marie-Christine ;

Quintin-Roue, Isabelle ;

Cottin, Laurane ;

Orvain, Corentin ;

Thepot, Sylvain ;

Chretien, Jean-Marie ;

Delneste, Yves ;

Ifrah, Norbert ;

Blanchet, Odile ;

Hunault-Berger, Mathilde ;

Lippert, Eric ;

Ugo, Valerie .

BLOOD ADVANCES, 2020, 4 (19) :4887-4897

[49] Sequential analysis of 18 genes in polycythemia vera and essential thrombocythemia reveals an association between mutational status and clinical outcome [J].

Luque Paz, Damien ;

Chauveau, Aurelie ;

Boyer, Francoise ;

Buors, Caroline ;

Samaison, Laura ;

Cottin, Laurane ;

Seegers, Valerie ;

Ferec, Claude ;

Le Marechal, Cedric ;

Gueguen, Paul ;

Lippert, Eric ;

Ianotto, Jean-Christophe ;

Ugo, Valerie .

GENES CHROMOSOMES & CANCER, 2017, 56 (05) :354-362

[50] Molecular characterization of triple-negative myeloproliferative neoplasms by next-generation sequencing [J].

Maddali, Madhavi ;

Venkatraman, Arvind ;

Kulkarni, Uday Prakash ;

Mani, Sathya ;

Raj, Santhosh ;

Sigamani, Elanthenral ;

Korula, Anu ;

Fouzia, N. A. ;

Lionel, Sharon Anbumalar ;

Selvarajan, Sushil ;

Manipadam, Marie Therese ;

Abraham, Aby ;

George, Biju ;

Mathews, Vikram ;

Balasubramanian, Poonkuzhali .

ANNALS OF HEMATOLOGY, 2022, 101 (09) :1987-2000

← 1 2 3 4 5 6 7 8 9 10 →