NPM1 MUTATED, BCR-ABL1 POSITIVE MYELOID NEOPLASMS: REVIEW OF LITERATURE NPM1 mutated, BCR-ABL1 positive myeloid neoplasms
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Keywords
NPM1, AML with BCR-ABL1, CML-BP, TKI therapy
Abstract
Break point cluster region - Abelson (BCR-ABL1) chimeric protein and mutated Nucleophosmin (NPM1) are often present in hematological cancers, but they rarely coexist in the same disease. Both anomalies are considered founder mutations causing inhibition of differentiation and apoptosis, but BCR-ABL1 could act as a secondary mutation conferring a proliferative advantage to a pre-neoplastic clone. The 2016 World Health Organization (WHO) classification lists the provisional acute myeloid leukemia (AML) with BCR-ABL1, which must be diagnosed differentially from the rare blast phase (BP) onset of a chronic myeloid leukemia (CML), mainly because of the different therapeutic approach in the use of tyrosine kinase inhibitors (TKI). Here we review all published cases since 1975 and describe a case from our institution in order to discuss the clinical and molecular features of this rare combination, and report the latest acquisition about an occurrence that could pertain either to the rare AML BCR-ABL1 positive or the even rarer CML-BP with mutated NPM1 at onset.
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References
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6 Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood 2016; 127: 2391-405. doi:10.1182/blood-2016-03-643544.
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9 Noguera NI, Piredda ML, Taulli R, Catalano G, Angelini G, Gaur G et al. PML/RARa inhibits PTEN expression in hematopoietic cells by competing with PU.1 transcriptional activity. Oncotarget 2016, 7: 66386-66397. doi:10.18632/oncotarget.11964.
10 Panuzzo C, Crivellaro S, Carrà G, Guerrasio A, Saglio G, Morotti A. Bcr-abl promotes pten downregulation in chronic myeloid leukemia. PLoS ONE 2014; 9: e110682. doi:10.1371/journal.pone.0110682.
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13 Yip SP, Siu PM, Leung PHM, Zhao Y, Yung BYM. The multifunctional nucleolar protein nucleophosmin/NPM/B23 and the nucleoplasmin family of proteins. Protein Reviews 2011; 15: 213-252. doi:10.1007/978-1-4614-0514-6-10.
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15 Calvo KL, Ojeda MJ, Ammatuna E, Lavorgna S, Ottone T, Targovnik HM et al. Detection of the nucleophosmin gene mutations in acute myelogenous leukemia through RT-PCR and polyacrylamide gel electrophoresis. Eu J Haematol. 2009, 82: 69-72. doi:10.1111/j.1600-0609.2008.01155.x.
16 Falini B, Martelli MP, Bolli N, Sportoletti P, Liso A, Tiacci E et al. Acute myeloid leukemia with mutated nucleophosmin (NPM1): Is it a distinct entity? Blood 2011; 117: 1109-20. doi:10.1182/blood-2010-08-299990.
17 Martínez-Losada C, Serrano-López J, Serrano-López J, Noguera NI, Garza E, Piredda L et al. Clonal genetic evolution at relapse of favorable-risk acute myeloid leukemia with NPM1 mutation is associated with phenotypic changes and worse outcomes. Haematologica 2018; 103: e400-e403. doi:10.3324/haematol.2018.188433.
18 Federici L, Falini B. Nucleophosmin mutations in acute myeloid leukemia: A tale of protein unfolding and mislocalization. Protein Sci. 2013; 22: 545-56. doi:10.1002/pro.2240.
19 Noguera NI, Song MS, Divona M, Catalano G, Calvo KL, García F et al. Nucleophosmin/B26 regulates PTEN through interaction with HAUSP in acute myeloid leukemia. Leukemia 2013; 27: 1037-43. doi:10.1038/leu.2012.314.
20 Colombo E, Alcalay M, Pelicci PG. Nucleophosmin and its complex network: A possible therapeutic target in hematological diseases. Oncogene 2011; 30:2595-609. doi:10.1038/onc.2010.646.
21 Colombo E, Bonetti P, Lazzerini Denchi E, Martinelli P, Zamponi R, Marine J-C et al. Nucleophosmin Is Required for DNA Integrity and p19Arf Protein Stability. Mol Cell Biol. 2005; 25(20):8874-86. doi:10.1128/mcb.25.20.8874-8886.2005.
22 Stephens PJ, Greenman CD, Fu B, Yang F, Bignell GR, Mudie LJ et al. Massive genomic rearrangement acquired in a single catastrophic event during cancer development. Cell 2011; 144(1):27-40. doi:10.1016/j.cell.2010.11.055.
23 Fontana MC, Marconi G, Feenstra JDM, Fonzi E, Papayannidis C, Ghelli Luserna Di Rorá A et al. Chromothripsis in acute myeloid leukemia: Biological features and impact on survival. Leukemia 2018; 32:1609-1620. doi:10.1038/s41375-018-0035-y.
24 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(2):264-78. doi:10.1016/j.cell.2012.06.023.
25 Noguera NI, Catalano G, Banella C, Divona M, Faraoni I, Ottone T et al. Acute promyelocytic Leukemia: Update on the mechanisms of leukemogenesis, resistance and on innovative treatment strategies. Cancers 2019; 11(10):1591. doi:10.3390/cancers11101591.
26 Krönke J, Bullinger L, Teleanu V, Tschürtz F, Gaidzik VI, Kühn MWM et al. Clonal evolution in relapsed NPM1-mutated acute myeloid leukemia. Blood 2013; 122(1):100-8. doi:10.1182/blood-2013-01-479188.
27 Jan M, Snyder TM, Corces-Zimmerman MR, Vyas P, Weissman IL, Quake SR et al. Clonal evolution of preleukemic hematopoietic stem cells precedes human acute myeloid leukemia. Sci Trans Med 2012; 4(149):149ra118. doi:10.1126/scitranslmed.3004315.
28 Potter N, Miraki-Moud F, Ermini L, Titley I, Vijayaraghavan G, Papaemmanuil E et al. Single cell analysis of clonal architecture in acute myeloid leukaemia. Leukemia 2019; 33(5):1113-1123. doi:10.1038/s41375-018-0319-2.
29 Gilliland DG. Molecular genetics of human leukemias: New insights into therapy. Sem Hematol 2002. ; 39:6-11. doi:10.1053/shem.2002.36921.
30 Gilliland, D.G.; Griffin, J.D. The roles of FLT3 in hematopoiesis and leukemia. Blood 2002; 39:6-11. doi: 10.1182/blood-2002-02-0492.
31 Bacher U, Haferlach T, Alpermann T, Zenger M, Hochhaus A, Beelen DW et al. Subclones with the t(9;22)/BCR-ABL1 rearrangement occur in AML and seem to cooperate with distinct genetic alterations. Br J Haematol; 2011; 152(6):713-20. doi:10.1111/j.1365-2141.2010.08472.x.
32 Biernaux C, Loos M, Sels A, Huez G, Stryckmans P. Detection of major bcr-abl gene expression at a very low level in blood cells of some healthy individuals. Blood 1995; 86: 3118-22.
33 Ismail SI, Naffa RG, Yousef AMF, Ghanim MT. Incidence of bcr-abl fusion transcripts in healthy individuals. Med Rep. 2014; 9: 1271-6. doi:10.3892/mmr.2014.1951.
34 Suzuki T, Kiyoi H, Ozeki K, Tomita A, Yamaji S, Suzuki R et al. Clinical characteristics and prognostic implications of NPM1 mutations in acute myeloid leukemia. Blood 2005; 106(8):2854-61. doi:10.1182/blood-2005-04-1733.
35 Verhaak RGW, Goudswaard CS, Van Putten W, Bijl MA, Sanders MA, Hugens W et al. Mutations in nucleophosmin (NPM1) in acute myeloid leukemia (AML): Association with other gene abnormalities and previously established gene expression signatures and their favorable prognostic significance. Blood 2005; 106: 3747-54. doi:10.1182/blood-2005-05-2168.
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Oct 27, 2020
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Catalano, G. (2020) “NPM1 MUTATED, BCR-ABL1 POSITIVE MYELOID NEOPLASMS: REVIEW OF LITERATURE : NPM1 mutated, BCR-ABL1 positive myeloid neoplasms”, Mediterranean Journal of Hematology and Infectious Diseases, 12(1), p. e2020083. doi: 10.4084/mjhid.2020.083.
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