ETV6::ABL1 fusion: from overlooked minor clone in myeloproliferative neoplasm to major player in leukemic transformation

Khoury JD, Solary E, Abla O, Akkari Y, Alaggio R, Apperley JF, Bejar R, Berti E, Busque L, Chan JKC, Chen W, Chen X, Chng WJ, Choi JK, Colmenero I, Coupland SE, Cross NCP, De Jong D, Elghetany MT, Takahashi E, Emile JF, Ferry J, Fogelstrand L, Fontenay M, Germing U, Gujral S, Haferlach T, Harrison C, Hodge JC, Hu S, Jansen JH, Kanagal-Shamanna R, Kantarjian HM, Kratz CP, Li XQ, Lim MS, Loeb K, Loghavi S, Marcogliese A, Meshinchi S, Michaels P, Naresh KN, Natkunam Y, Nejati R, Ott G, Padron E, Patel KP, Patkar N, Picarsic J, Platzbecker U, Roberts I, Schuh A, Sewell W, Siebert R, Tembhare P, Tyner J, Verstovsek S, Wang W, Wood B, Xiao W, Yeung C, Hochhaus A (2022) The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: myeloid and histiocytic/dendritic neoplasms. Leukemia 36:1703–1719

Arber DA, Orazi A, Hasserjian RP, Borowitz MJ, Calvo KR, Kvasnicka HM, Wang SA, Bagg A, Barbui T, Branford S, Bueso-Ramos CE, Cortes JE, Dal Cin P, DiNardo CD, Dombret H, Duncavage EJ, Ebert BL, Estey EH, Facchetti F, Foucar K, Gangat N, Gianelli U, Godley LA, Gokbuget N, Gotlib J, Hellstrom-Lindberg E, Hobbs GS, Hoffman R, Jabbour EJ, Kiladjian JJ, Larson RA, Le Beau MM, Loh ML, Lowenberg B, Macintyre E, Malcovati L, Mullighan CG, Niemeyer C, Odenike OM, Ogawa S, Orfao A, Papaemmanuil E, Passamonti F, Porkka K, Pui CH, Radich JP, Reiter A, Rozman M, Rudelius M, Savona MR, Schiffer CA, Schmitt-Graeff A, Shimamura A, Sierra J, Stock WA, Stone RM, Tallman MS, Thiele J, Tien HF, Tzankov A, Vannucchi AM, Vyas P, Wei AH, Weinberg OK, Wierzbowska A, Cazzola M, Dohner H, Tefferi A (2022) International consensus classification of myeloid neoplasms and acute leukemias: integrating morphologic, clinical, and genomic data. Blood 140:1200–1228

Article  CAS  PubMed  PubMed Central  Google Scholar 

Choi SI, Jang MA, Jeong WJ, Jeon BR, Lee YW, Shin HB, Hong DS, Lee YK (2017) A case of chronic myeloid leukemia with rare variant ETV6/ABL1 rearrangement. Ann Lab Med 37:77–80

Article  CAS  PubMed  Google Scholar 

Zaliova M, Moorman AV, Cazzaniga G, Stanulla M, Harvey RC, Roberts KG, Heatley SL, Loh ML, Konopleva M, Chen IM, Zimmermannova O, Schwab C, Smith O, Mozziconacci MJ, Chabannon C, Kim M, Frederik Falkenburg JH, Norton A, Marshall K, Haas OA, Starkova J, Stuchly J, Hunger SP, White D, Mullighan CG, Willman CL, Stary J, Trka J, Zuna J (2016) Characterization of leukemias with ETV6-ABL1 fusion. Haematologica 101:1082–1093

Article  CAS  PubMed  PubMed Central  Google Scholar 

Xie W, Wang SA, Hu S, Xu J, Medeiros LJ, Tang G (2018) Myeloproliferative neoplasm with ABL1/ETV6 rearrangement mimics chronic myeloid leukemia and responds to tyrosine kinase inhibitors. Cancer Genet 228–229:41–46

Article  PubMed  Google Scholar 

Yao J, Xu L, Aypar U, Meyerson HJ, Londono D, Gao Q, Baik J, Dietz J, Benayed R, Sigler A, Yabe M, Dogan A, Arcila ME, Roshal M, Zhang Y, Mauro MJ, Xiao W (2021) Myeloid/lymphoid neoplasms with eosinophilia/ basophilia and ETV6-ABL1 fusion: cell-of-origin and response to tyrosine kinase inhibition. Haematologica 106:614–618

PubMed  Google Scholar 

Hantschel O (2012) Structure, regulation, signaling, and targeting of abl kinases in cancer. Genes Cancer 3:436–446

Article  PubMed  PubMed Central  Google Scholar 

Kakadia PM, Schmidmaier R, Volkl A, Schneider I, Huk N, Schneider S, Panzner G, Neidel U, Fritz B, Spiekermann K, Bohlander SK (2016) An ETV6-ABL1 fusion in a patient with chronic myeloproliferative neoplasm: initial response to Imatinib followed by rapid transformation into ALL. Leuk Res Rep 6:50–54

PubMed  PubMed Central  Google Scholar 

Park J, Kim M, Lim J, Kim Y, Han K, Kim JS, Lee S, Kim HJ, Min WS (2013) Variant of ETV6/ABL1 gene is associated with leukemia phenotype. Acta Haematol 129:78–82

Article  CAS  PubMed  Google Scholar 

Reiter A, Gotlib J (2017) Myeloid neoplasms with eosinophilia. Blood 129:704–714

Article  CAS  PubMed  Google Scholar 

La Starza R, Trubia M, Testoni N, Ottaviani E, Belloni E, Crescenzi B, Martelli M, Flandrin G, Pelicci PG, Mecucci C (2002) Clonal eosinophils are a morphologic hallmark of ETV6/ABL1 positive acute myeloid leukemia. Haematologica 87:789–794

PubMed  Google Scholar 

Tzankov A, Reichard KK, Hasserjian RP, Arber DA, Orazi A, Wang SA (2023) Updates on eosinophilic disorders. Virchows Arch 482:85–97

Article  CAS  PubMed  Google Scholar 

Gancheva K, Virchis A, Howard-Reeves J, Cross NC, Brazma D, Grace C, Kotzampaltiris P, Partheniou F, Nacheva E (2013) Myeloproliferative neoplasm with ETV6-ABL1 fusion: a case report and literature review. Mol Cytogenet 6:39

Article  PubMed  PubMed Central  Google Scholar 

Schwaab J, Naumann N, Luebke J, Jawhar M, Somervaille TCP, Williams MS, Frewin R, Jost PJ, Lichtenegger FS, La Rosee P, Storch N, Haferlach T, Horny HP, Fabarius A, Haferlach C, Burchert A, Hofmann WK, Cross NCP, Hochhaus A, Reiter A, Metzgeroth G (2020) Response to tyrosine kinase inhibitors in myeloid neoplasms associated with PCM1-JAK2, BCR-JAK2 and ETV6-ABL1 fusion genes. Am J Hematol 95:824–833

Article  CAS  PubMed  Google Scholar 

Dohner H, Wei AH, Appelbaum FR, Craddock C, DiNardo CD, Dombret H, Ebert BL, Fenaux P, Godley LA, Hasserjian RP, Larson RA, Levine RL, Miyazaki Y, Niederwieser D, Ossenkoppele G, Rollig C, Sierra J, Stein EM, Tallman MS, Tien HF, Wang J, Wierzbowska A, Lowenberg B (2022) Diagnosis and management of AML in adults: 2022 recommendations from an international expert panel on behalf of the ELN. Blood 140:1345–1377

Article  PubMed  Google Scholar 

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