A new variant t(6;15;17)(q25;q22;q21) in acute promyelocytic leukemia: fluorescence in situ hybridization confirmation.
Cancer Genet Cytogenet
; 159(1): 69-73, 2005 May.
Article
en En
| MEDLINE
| ID: mdl-15860361
Acute promyelocytic leukemia (APL) is characterized by the t(15;17)(q22;q21), which results in the fusion of the promyelocytic leukemia (PML) gene at 15q22 with the retinoic acid alpha-receptor (RARalpha) at 17q21. The 2 chimeric genes PML/RARalpha and RARalpha/PML are thought to play a role in leukemogenesis. We report a case of APL in a patient carrying an apparently complex variant translocation identified as t(6;15;17) by R-banding and whole chromosome 15 and 17 painting. However, FISH analysis with a PML/RARalpha dual-color kit showed a more complex translocation, resulting presumably from a two-step rearrangement, with PML-RARalpha fusion gene located as expected on the der(15) but the residual 5'-RARalpha signal located on the der(6). The patient achieved complete remission with all-trans retinoic acid treatment associated with chemotherapy. This case illustrates the usefulness of combined cytogenetics, FISH, and molecular biology to evidence the PML/RARalpha fusion gene in complex cases.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Translocación Genética
/
Cromosomas Humanos Par 6
/
Cromosomas Humanos Par 15
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Cromosomas Humanos Par 17
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Leucemia Promielocítica Aguda
Tipo de estudio:
Prognostic_studies
Límite:
Female
/
Humans
/
Middle aged
Idioma:
En
Revista:
Cancer Genet Cytogenet
Año:
2005
Tipo del documento:
Article
País de afiliación:
Francia
Pais de publicación:
Estados Unidos