Common and variant gene fusions predict distinct clinical phenotypes in rhabdomyosarcoma.
J Clin Oncol
; 15(5): 1831-6, 1997 May.
Article
en En
| MEDLINE
| ID: mdl-9164192
ABSTRACT
PURPOSE:
We evaluated the clinical features of the common PAX3-FKHR and variant PAX7-FKHR gene fusions observed in rhabdomyosarcoma. PATIENTS ANDMETHODS:
Reverse-transcriptase polymerase chain reaction (RT-PCR) assays were used to detect the gene fusions in 34 cases of rhabdomyosarcoma. Clinical data were obtained retrospectively and compared with the molecular results.RESULTS:
The PAX3-FKHR and PAX7-FKHR gene fusions were present in tumors from 18 and 16 patients, respectively. The group with a PAX7-FKHR fusion was younger (P = .01) and presented more often with an extremity lesion (82% v 22%; P = .001). PAX7-FKHR tumors were more often localized than PAX3-FKHR tumors (P = .03). In patients with metastatic disease at diagnosis, the patterns were different PAX7-FKHR patients had metastatic disease that involved only bone (n = 2) and distant nodes (n = 2), while the PAX3-FKHR group had multiple sites involved, including bone (n = 7), marrow (n = 7), lungs (n = 3), distant nodes (n = 2), skin (n = 1), and brain (n = 1). No significant difference in relapse rate was observed. A trend toward improved overall survival in the PAX7-FKHR group was noted (P = .09). Event-free survival for this PAX7-FKHR group was significantly longer (P = .04).CONCLUSION:
Our results suggest that the common PAX3-FKHR and the variant PAX7-FKHR fusions are associated with distinct clinical phenotypes. Identification of fusion gene status may be a useful diagnostic tool in rhabdomyosarcoma.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Factores de Transcripción
/
Clonación Molecular
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Rabdomiosarcoma Embrionario
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Rabdomiosarcoma Alveolar
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Proteínas de Homeodominio
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Proteínas de Unión al ADN
/
Proteínas Musculares
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Proteínas de Neoplasias
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Proteínas del Tejido Nervioso
Tipo de estudio:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
/
Humans
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Infant
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Male
Idioma:
En
Revista:
J Clin Oncol
Año:
1997
Tipo del documento:
Article
País de afiliación:
Estados Unidos