title: Novel der(1)t(1;19) in two patients with myeloid neoplasias.
abstract: Cytogenetic studies can be useful in the clinical management of patients with leukemia. They may also give a clue to leukemogenesis and/or pathogenesis. Numerous disease-specific chromosomal aberrations have been and continue to be identified. Translocation (1;19)(q21 through q23;p13.3) involving the long arm of chromosome 1 and the short arm of chromosome 19 is usually associated with acute lymphoblastic leukemia. We found a new translocation involving one virtually identical breakpoint 19p13 and one distinct 1p13 in two cases of myeloid neoplasms. Studies of bone marrow and peripheral blood specimens specified in one of our patients acute myeloid leukemia and in an other myelodysplastic syndrome. Conventional cytogenetics was supplemented by spectral karyotyping (SKY), microdissection, and fluorescence in situ hybridization. Our first case showed a der(1)t(1;19)(p13;p13.1) as the sole chromosomal change. In addition to this translocation, a pericentric inversion within chromosome 10 and with a cryptic t(10;11) were detected by SKY in the second case. Translocation (1;19)(p13;p13.1) may play a role in the leukemogenesis of myeloid diseases.
authors.affiliation: Institut für Humangenetik, Westfälische Wilhelms-Universität, Vesaliusweg 12-14, Münster, Germany. tchinda@uni-muenster.de
authors.forename: Joëlle
authors.initials: J
authors.lastname: Tchinda
authors.forename: Sarah
authors.initials: S
authors.lastname: Volpert
authors.forename: Thomas
authors.initials: T
authors.lastname: Neumann
authors.forename: Ingo
authors.initials: I
authors.lastname: Kennerknecht
authors.forename: Jörg
authors.initials: J
authors.lastname: Ritter
authors.forename: Thomas
authors.initials: T
authors.lastname: Büchner
authors.forename: Wolfgang E
authors.initials: WE
authors.lastname: Berdel
authors.forename: Jürgen
authors.initials: J
authors.lastname: Horst
mesh_terms: D000328:Adult; D000756:Anemia, Sideroblastic / Q000150:complications / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1; D002888:Chromosomes, Human, Pair 19; D005199:Fanconi Anemia / Q000150:complications / Q000235:genetics; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007223:Infant; D007621:Karyotyping; D007948:Leukemia, Monocytic, Acute / Q000235:genetics*; D009190:Myelodysplastic Syndromes / Q000150:complications / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D005819:Genetic Markers