An ETV6-ABL1 fusion in a patient with chronic myeloproliferative neoplasm: Initial response to Imatinib followed by rapid transformation into ALL

Papadopoulos, 1995, The novel activation of ABL by fusion to an ets-related gene, TEL, Cancer Res., 55, 34 Park, 2013, Variant of ETV6/ABL1 gene is associated with leukemia phenotype, Acta Haematol., 129, 78, 10.1159/000342490 Perna, 2011, ETV6-ABL1-positive “chronic myeloid leukemia”: clinical and molecular response to tyrosine kinase inhibition, Haematologica, 96, 342, 10.3324/haematol.2010.036673 Zhou, 2012, Detection of ETV6 gene rearrangements in adult acute lymphoblastic leukemia, Ann. Hematol., 91, 1235, 10.1007/s00277-012-1431-4 Zuna, 2010, Acute leukemias with ETV6/ABL1 (TEL/ABL) fusion: poor prognosis and prenatal origin, Genes Chromosomes Cancer, 49, 873, 10.1002/gcc.20796 Golub, 1996, Oligomerization of the ABL tyrosine kinase by the Ets protein TEL in human leukemia, Mol. Cell Biol., 16, 4107, 10.1128/MCB.16.8.4107 Okuda, 2001, ARG tyrosine kinase activity is inhibited by STI571, Blood, 97, 2440, 10.1182/blood.V97.8.2440 Carroll, 1997, CGP 57148, a tyrosine kinase inhibitor, inhibits the growth of cells expressing BCR-ABL, TEL-ABL, and TEL-PDGFR fusion proteins, Blood, 90, 4947, 10.1182/blood.V90.12.4947 Kakadia, 2011, A novel ABL1 fusion to the SH2 containing inositol phosphatase-1 (SHIP1) in acute lymphoblastic leukemia (ALL), Leukemia, 25, 1645, 10.1038/leu.2011.129 Golub, 1995, Fusion of the TEL gene on 12p13 to the AML1 gene on 21q22 in acute lymphoblastic leukemia, Proc. Natl. Acad. Sci. USA, 92, 4917, 10.1073/pnas.92.11.4917 Romana, 1995, The t(12;21) of acute lymphoblastic leukemia results in a tel-AML1 gene fusion, Blood, 85, 3662, 10.1182/blood.V85.12.3662.bloodjournal85123662 Griesinger, 2002, Identification of an ETV6-ABL2 fusion transcript in combination with an ETV6 point mutation in a T-cell acute lymphoblastic leukaemia cell line, Br. J. Haematol., 119, 454, 10.1046/j.1365-2141.2002.03850.x Zhang, 2015, Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy, Nat. Genet, 10.1038/ng.3177 Barbouti, 2003, Clinical and genetic studies of ETV6/ABL1-positive chronic myeloid leukaemia in blast crisis treated with imatinib mesylate, Br. J. Haematol., 122, 85, 10.1046/j.1365-2141.2003.04391.x Kelly, 2009, Insertion (12;9)(p13;q34q34): a cryptic rearrangement involving ABL1/ETV6 fusion in a patient with Philadelphia-negative chronic myeloid leukemia, Cancer Genet Cytogenet, 192, 36, 10.1016/j.cancergencyto.2009.02.012 O’Brien, 2002, Transient response to imatinib mesylate (STI571) in a patient with the ETV6-ABL t(9;12) translocation, Blood, 99, 3465, 10.1182/blood.V99.9.3465 Kawamata, 2008, Chronic phase of ETV6-ABL1 positive CML responds to imatinib, Genes Chromosomes Cancer, 47, 919, 10.1002/gcc.20593 Nand, 2009, Myeloproliferative disorder with eosinophilia and ETV6–ABL gene rearrangement: efficacy of second-generation tyrosine kinase inhibitors, Leuk. Res., 33, 1144, 10.1016/j.leukres.2009.03.011 Tirado, 2005, Molecular and cytogenetic characterization of a novel rearrangement involving chromosomes 9, 12, and 17 resulting in ETV6 (TEL) and ABL fusion, Cancer Genet. Cytogenet., 157, 74, 10.1016/j.cancergencyto.2004.06.001 Gancheva, 2013, Myeloproliferative neoplasm with ETV6-ABL1 fusion: a case report and literature review, Mol. Cytogenet, 6, 39, 10.1186/1755-8166-6-39 Malone, 2010, A doctor(s) dilemma: etv6-abl1 positive acute lymphoblastic leukaemia, Br. J. Haematol., 151, 101, 10.1111/j.1365-2141.2010.08323.x Brunel, 1996, Variant and masked translocations in acute promyelocytic leukemia, Leuk. Lymphoma, 22, 221, 10.3109/10428199609051752 Andreasson, 1997, BCR/ABL-negative chronic myeloid leukemia with ETV6/ABL fusion, Genes Chromosomes Cancer, 20, 299, 10.1002/(SICI)1098-2264(199711)20:3<299::AID-GCC11>3.0.CO;2-K Van Limbergen, 2001, Molecular cytogenetic and clinical findings in ETV6/ABL1-positive leukemia, Genes Chromosomes Cancer, 30, 274, 10.1002/1098-2264(2000)9999:9999<1::AID-GCC1089>3.0.CO;2-1 Lin, 2002, Detection of dual TEL-ABL transcripts and a Tel-Abl protein containing phosphotyrosine in a chronic myeloid leukemia patient, Leukemia, 16, 294, 10.1038/sj.leu.2402353 Keung, 2002, Chronic myelocytic leukemia with eosinophilia, t(9;12)(q34;p13), and ETV6-ABL gene rearrangement: case report and review of the literature, Cancer Genet Cytogenet, 138, 139, 10.1016/S0165-4608(02)00609-X La Starza, 2002, Clonal eosinophils are a morphologic hallmark of ETV6/ABL1 positive acute myeloid leukemia, Haematologica, 87, 789 Meyer-Monard, 2005, Broad molecular screening of an unclassifiable myeloproliferative disorder reveals an unexpected ETV6/ABL1 fusion transcript, Leukemia, 19, 1096, 10.1038/sj.leu.2403697 Mozziconacci, 2007, A fifteen-year cytogenetic remission following interferon treatment in a patient with an indolent ETV6-ABL positive myeloproliferative syndrome, Am. J. Hematol., 82, 688, 10.1002/ajh.20873 Baeumler, 2008, Establishment and cytogenetic characterization of a human acute lymphoblastic leukemia cell line (ALL-VG) with ETV6/ABL1 rearrangement, Cancer Genet. Cytogenet., 185, 37, 10.1016/j.cancergencyto.2008.05.001 Zaliova, 2016, Characterization of leukemias with ETV6-ABL1 fusion, Haematologica, 101, 1082, 10.3324/haematol.2016.144345 Salaverria, 2015, Detection of chromothripsis-like patterns with a custom array platform for chronic lymphocytic leukemia, Genes Chromosomes Cancer, 54, 668, 10.1002/gcc.22277