title: Insertion (4;11)(q27;q24q21) in a patient with essential thrombocythemia with progression to myelofibrosis.
abstract: We report a case of essential thrombocythemia (ET) in a 39-year-old woman who developed myelofibrosis at follow-up. The cytogenetic and fluorescence in situ hybridization analyses revealed a pathologic clone with the following previously unreported karyotype: 46,XX,ins(4;11)(q27;q24q21). We cannot conclude that the presence of this inverted insertion was associated with the overproduction of platelets, but documentation of more cases with chromosomal abnormalities and ET should lead to identifying different candidate genes involved in the neoplastic growth.
authors.affiliation: Departamento de Genética, Instituto de Investigaciones Hematológicas Mariano R.Castex, Academia Nacional de Medicina, Pacheco de Melo 3081, 1425 Buenos Aires, Argentina.
authors.forename: Patricia
authors.initials: P
authors.lastname: Gargallo
authors.forename: Anne
authors.initials: A
authors.lastname: Hagemeijer
authors.forename: Patricia
authors.initials: P
authors.lastname: Vassallu
authors.forename: Laura
authors.initials: L
authors.lastname: Kornblihtt
authors.forename: Paula
authors.initials: P
authors.lastname: Heller
authors.forename: Felisa
authors.initials: F
authors.lastname: Molinas
authors.forename: Irene
authors.initials: I
authors.lastname: Larripa
mesh_terms: D000328:Adult; D001853:Bone Marrow / Q000473:pathology; D007446:Chromosome Inversion; D002880:Chromosomes, Human, Pair 11; D002894:Chromosomes, Human, Pair 4; D018450:Disease Progression; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D055728:Primary Myelofibrosis / Q000235:genetics* / Q000473:pathology; D013920:Thrombocythemia, Essential / Q000235:genetics* / Q000473:pathology