title: Identification of ANLN as ETV6 partner gene in recurrent t(7;12)(p15;p13): a possible role of deregulated ANLN expression in leukemogenesis.
abstract: The ETV6 gene encodes an ETS family transcription factor that is involved in a myriad of chromosomal rearrangements found in hematological malignancies and other neoplasms. A recurrent ETV6 translocation, previously described in patients with acute myeloid leukemia (AML) (Genes Chromosomes Cancer 51:328-337,2012, Leuk Res 35:e212-214, 2011), whose partner has not been identified is t(7;12)(p15;p13). We herein report that the t(7;12)(p15;p13) fuses ETV6 to ANLN, a gene not previously implicated in the pathogenesis of hematological malignancies, and we demonstrate that this translocation leads to high expression of the fusion transcript in the myeloid and lymphoid lineages.
authors.affiliation: Centro de Pesquisa Clinica, IIEP, Hopsital Albert Einstein, Av. Albert Einstein, 627/520, São Paulo, SP, Brazil. paulo.campregher@einstein.br.|Research Institute, Hospital Israelita Albert Einstein, São Paulo, Brazil. paulo.campregher@einstein.br.|Foundation Medicine, Cambridge, MT, USA. paulo.campregher@einstein.br.|Department of Hematology, University of Campinas/Hemocentro - Unicamp, Campinas, Brazil. paulo.campregher@einstein.br.
authors.forename: Paulo Vidal
authors.initials: PV
authors.lastname: Campregher
authors.affiliation: Research Institute, Hospital Israelita Albert Einstein, São Paulo, Brazil. welbert.pereira@einstein.br.
authors.forename: Welbert de Oliveira
authors.initials: WO
authors.lastname: Pereira
authors.affiliation: Research Institute, Hospital Israelita Albert Einstein, São Paulo, Brazil. lisboa.bianca@gmail.com.
authors.forename: Bianca
authors.initials: B
authors.lastname: Lisboa
authors.affiliation: Research Institute, Hospital Israelita Albert Einstein, São Paulo, Brazil. renato.puga@einstein.br.
authors.forename: Renato
authors.initials: R
authors.lastname: Puga
authors.affiliation: Department of Hematology, Hospital Israelita Albert Einstein, São Paulo, Brazil. helman@einstein.br.
authors.forename: Ricardo
authors.initials: R
authors.lastname: Helman
authors.affiliation: Research Institute, Hospital Israelita Albert Einstein, São Paulo, Brazil. marimiyagi@hotmail.com.
authors.forename: Mariana
authors.initials: M
authors.lastname: Miyagi
authors.affiliation: Research Institute, Hospital Israelita Albert Einstein, São Paulo, Brazil. evelyn.asc@hotmail.com.
authors.forename: Evelyn Helena Ascendino
authors.initials: EH
authors.lastname: da Mata
authors.affiliation: Research Institute, Hospital Israelita Albert Einstein, São Paulo, Brazil. tarcila.datoguia@einstein.br.
authors.forename: Tarcila Santos
authors.initials: TS
authors.lastname: Datoguia
authors.affiliation: Department of Hematology, Hospital Israelita Albert Einstein, São Paulo, Brazil. elvira.velloso@einstein.br.
authors.forename: Elvira Deolinda Rodrigues Pereira
authors.initials: ED
authors.lastname: Velloso
authors.affiliation: Department of Hematology, Hospital Israelita Albert Einstein, São Paulo, Brazil. nsbacal@einstein.br.
authors.forename: Nydia Strachman
authors.initials: NS
authors.lastname: Bacal
authors.affiliation: Foundation Medicine, Cambridge, MT, USA. jross@foundationmedicine.com.|Department of Pathology and Laboratory Medicine, Albany Medical College, Albany, NY, USA. jross@foundationmedicine.com.
authors.forename: Jeffrey S
authors.initials: JS
authors.lastname: Ross
authors.affiliation: Foundation Medicine, Cambridge, MT, USA. sali@foundationmedicine.com.
authors.forename: Siraj
authors.initials: S
authors.lastname: Ali
authors.affiliation: Foundation Medicine, Cambridge, MT, USA. vmiller@foundationmedicine.com.
authors.forename: Vincent
authors.initials: V
authors.lastname: Miller
authors.affiliation: Department of Hematology, University of Campinas/Hemocentro - Unicamp, Campinas, Brazil. ferreira@unicamp.br.
authors.forename: Fernando Ferreira
authors.initials: FF
authors.lastname: Costa
authors.affiliation: Department of Hematology, Hospital Israelita Albert Einstein, São Paulo, Brazil. hamer@einstein.br.
authors.forename: Nelson
authors.initials: N
authors.lastname: Hamerschlak
authors.affiliation: Department of Hematology, Hospital Israelita Albert Einstein, São Paulo, Brazil. fabiopss@gmail.com.
authors.forename: Fabio Pires de Souza
authors.initials: FP
authors.lastname: Santos
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics / Q000378:metabolism*; D008840:Microfilament Proteins / Q000235:genetics / Q000378:metabolism*; D015514:Oncogene Proteins, Fusion / Q000235:genetics / Q000378:metabolism; D050783:Proto-Oncogene Proteins c-ets / Q000235:genetics / Q000378:metabolism*; D012097:Repressor Proteins / Q000235:genetics / Q000378:metabolism*; D014157:Transcription Factors; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D008840:Microfilament Proteins; D015514:Oncogene Proteins, Fusion; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D014157:Transcription Factors; D000097764:ETS Translocation Variant 6 Protein; C000591059:ANLN protein, human