Novel der(1)t(1;19) in two patients with myeloid neoplasias
Autor: | Jörg Ritter, Jürgen Horst, Thomas Neumann, Joelle Tchinda, Sarah Volpert, Ingo Kennerknecht, Wolfgang E. Berdel, T. Büchner |
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Rok vydání: | 2002 |
Předmět: |
Adult
Genetic Markers Cancer Research Myeloid Chromosomal translocation Biology Translocation Genetic Chromosome 19 Genetics medicine Humans Molecular Biology Chromosomal inversion medicine.diagnostic_test Infant Myeloid leukemia Karyotype medicine.disease Anemia Sideroblastic Leukemia Fanconi Anemia medicine.anatomical_structure Chromosomes Human Pair 1 Karyotyping Myelodysplastic Syndromes Leukemia Monocytic Acute Immunology Cancer research Female Chromosomes Human Pair 19 Fluorescence in situ hybridization |
Zdroj: | Cancer Genetics and Cytogenetics. 133:61-65 |
ISSN: | 0165-4608 |
DOI: | 10.1016/s0165-4608(01)00505-2 |
Popis: | 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. |
Databáze: | OpenAIRE |
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