Alveolar rhabdomyosarcoma with the t(2;13): Cytogenetic findings and clinicopathologic correlations

Abstract

We describe here the clinical and pathologic features associated with a specific translocation, t(2;13), in alveolar rhabdomyosarcoma. Tumor specimens from 14 patients with a t(2;13)-positive alveolar rhabdomyosarcoma were studied for cytogenetic-clinicopathologic correlations. Three patients had occult primary tumors; nine patients had primary tumors of the trunk (mediastinal, pelvic, or rectal). The presence of the t(2;13) was ascertained from examination of tumor involved bone marrow in ten patients who had widespread metastatic disease at the time of diagnosis. Marrow involvement was so extensive in three cases that they were initially diagnosed as acute leukemia. Response to therapy was poor, with only five patients achieving a complete response. Twelve patients have died of their disease at a median survival time of 6 months from diagnosis and one is living with recurrent disease; only one patient survives free of disease.

Detection of the PAX3-FKHR fusion gene in paediatric rhabdomyosarcoma: a reproducible predictor of outcome?

“…Previous studies (Douglass et al, 1993) to define the role of reciprocal translocations in rhabdomyosarcoma have been limited by difficulties in establishing karyotypes and by the limited availability of frozen tissue for FISH or RT-PCR. We have developed an RT-PCR assay, which works on formalin-fixed tissue (Anderson et al, 1997) and allows a more extensive study of archival material from patients for whom there are detailed data of treatment and outcome.…”

Molecular and cytogenetics of soft tissue sarcomas

“…In MFH, 19p 13 abnormalities have been associated with a higher rate of local recurrence and with metastases, trisomy 8 more often occurs in relapsing MFH, whereas presence of ring chromosomes has been associated with a lower tendency for tumor relapse (Choong et al 1996, Mandahl 1996. In alveolar rhabdomyosarcomas, an association was found between t(2; 13) and older patient age and truncal location, but the genetic change did not seem to influence the tumor response rate after treatment (Douglass et al 1993 ). Reduced expression of the RBI protein have been detected more often in metastatic sarcomas (Cance et al 1990) and an increased expression of the TP53 and MDM2 proteins have been shown to correlate with poor survival (Cordon-Cardo et al 1994 ).…”

Guilt by association: PAX3-FOXO1 regulates gene expression through selective destabilization of the EGR1 transcription factor

“…2 RMS are distinguished from other soft tissue sarcomas by immunohistochemical reactivity for the striated muscle-specific markers desmin, MYOD1 and muscle-specific actin. 2 ARMS generally presents in adolescents, 3 most commonly originating in the muscle tissue of the extremities. 4 Criteria for subtyping ARMS include physical location of the tumor, its alveolar appearance and the great majority express the PAX3-FOXO1 (PAX3-FKHR) chimeric gene, resulting from the in-frame fusion between chromosomes 2 and 13.…”