Novel variant Ph translocation t(9;22;11)(q34;q11.2;p15)inv(9)(p13q34) in chronic myeloid leukemia involving a one-step mechanism
| Autor: | I. Larripa, M.F. Alú, M. Bianchini, Carolina Bárbara Belli, G. Alfonso |
|---|---|
| Rok vydání: | 2010 |
| Předmět: |
Derivative chromosome
Chromosomes Human Pair 22 Dasatinib Chromosomal translocation Antineoplastic Agents Biology Piperazines Translocation Genetic Interferon-gamma hemic and lymphatic diseases Leukemia Myelogenous Chronic BCR-ABL Positive Genetics Humans Hydroxyurea Philadelphia Chromosome Molecular Biology Metaphase Genetics (clinical) In Situ Hybridization Fluorescence Chromosomal inversion Aged ABL Chromosomes Human Pair 11 Chromosome Myeloid leukemia Karyotype Molecular biology Chromosome Banding Thiazoles Pyrimidines Karyotyping Benzamides Chromosome Inversion Imatinib Mesylate Female Chromosomes Human Pair 9 |
| Zdroj: | Cytogenetic and genome research. 132(4) |
| ISSN: | 1424-859X |
| Popis: | Chronic myeloid leukemia (CML) is a clonal malignant disorder of a pluripotent hematopoietic stem cell characterized by the presence of a Philadelphia (Ph) chromosome. Less than 10% of patients present variant Ph chromosomes involving 1 or more additional chromosomes, other than chromosomes 9 and 22, with uncertain prognosis. There are mainly 1- or 2-step mechanisms proposed to explain the genesis of variant Ph chromosomes depending on whether the involved chromosomes are simultaneously broken and rejoined or if a standard t(9;22) occurs first. By combined standard cytogenetic and FISH analysis we detected a novel variant Ph translocation among chromosomes 9, 11 and 22 in a patient with CML without progression to an accelerated phase of the disease after 7 years, with the derivative chromosome 9 also having an acquired pericentric inversion. This novel case illustrates the use of FISH in metaphase to confirm a new rearrangement not previously described in variant Ph formation and that the present karyotype could have originated by a 1-step mechanism with 4 simultaneous breakages without deletion of ABL1. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|