Molecular cytogenetic findings in a three-way novel variant of t(1;8;21)(p35;q22;q22): a unique relocation of the AML1/ETO fusion gene 1p35 in AML-M2.
Cancer Genet Cytogenet
; 180(2): 153-7, 2008 Jan 15.
Article
en En
| MEDLINE
| ID: mdl-18206543
Acute myeloid leukemia (AML) is a malignant neoplasm of hematopoietic stem cells characterized by an abnormal proliferation of myeloid precursors, a reduced rate of apoptosis, and an arrest in cellular differentiation. The present report deals with the results of hematologic, immunophenotypic, cytogenetic, fluorescence in situ hybridization (FISH), and molecular analyses of a 53-year-old female patient diagnosed with AML-M2. Cytogenetic and FISH analysis revealed a complex translocation involving three chromosomes showing t(1;8;21)(p35;q22;q22). The observation of breakpoints at 8q22 and 21q22 suggests a rearrangement of the ETO and AML1 genes, respectively. Using a dual-color FISH test with ETO and AML1 probes, an AML1/ETO fusion signal on the derivative 1p35 instead of der(8) was demonstrated. To the best of our knowledge, this is the first report about the relocation of the AML1/ETO fusion gene to the 1p35 rather than der(8), suggesting the presence of a novel variant of t(8;21)(q22;q22) in the observed patient.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Translocación Genética
/
Cromosomas Humanos Par 1
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Cromosomas Humanos Par 8
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Cromosomas Humanos Par 21
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Leucemia Mieloide Aguda
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Proteínas de Fusión Oncogénica
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Subunidad alfa 2 del Factor de Unión al Sitio Principal
Tipo de estudio:
Diagnostic_studies
Límite:
Female
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Humans
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Middle aged
Idioma:
En
Revista:
Cancer Genet Cytogenet
Año:
2008
Tipo del documento:
Article
País de afiliación:
India
Pais de publicación:
Estados Unidos