Use of reverse transcriptase polymerase chain reaction for diagnosis and staging of alveolar rhabdomyosarcoma, Ewing sarcoma family of tumors, and desmoplastic small round cell tumor

被引:44
作者
Athale, UH
Shurtleff, SA
Jenkins, JJ
Poquette, CA
Tan, M
Downing, JR
Pappo, AS
机构
[1] St Jude Childrens Res Hosp, Dept Hematol Oncol, Memphis, TN 38105 USA
[2] St Jude Childrens Res Hosp, Dept Biostat & Epidemiol, Memphis, TN 38105 USA
[3] St Jude Childrens Res Hosp, Dept Pathol, Memphis, TN 38105 USA
[4] Univ Tennessee, Coll Med, Dept Pediat, Memphis, TN USA
[5] Univ Tennessee, Coll Med, Dept Pathol, Memphis, TN USA
关键词
Ewing sarcoma family of tumors; alveolar rhabdomyosarcoma; desmoplastic small round cell tumor; RT-PCR; metastatic disease; micrometastasis;
D O I
10.1097/00043426-200102000-00006
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Purpose: To compare the use of reverse transcriptase polymerase chain reaction (RT-PCR) with that of morphology-based methods for diagnosis, staging, and detection of metastatic disease in pediatric alveolar rhabdomyosarcoma (ARMS), Ewing sarcoma family of tumors (ESFT), and desmoplastic small round cell tumors (DSRCT). Materials and Methods: RT-PCR assays for the EWS-FLI1, EWS-ERG. PAX3-FKHR, PAX7-FKHR. and EWS-WT1 fusion transcripts were performed on RNA extracted from the primary tumor tissue, bone marrow, and body fluids obtained at initial presentation and relapse. Molecular findings were compared with original histologic diagnoses and results of staging procedures. Results: Eighty-eight samples from 47 patients with ARMS (n = 13), ESFT (n = 31), or DSRCT (n = 3) were analyzed. The detection rate of metastatic disease was significantly higher with RT-PCR (95%) as compared with the morphologic methods (70%) for the three pediatric sarcomas studied. in primary tumors with characteristic fusion transcript, RT-PCR was positive in all cases with morphologic evidence of metastatic disease. Moreover, in six patients (3 with ARMS. 2 with DSRCT, and 1 with ESFT) with metastatic disease, micrometastases in bone marrow (4) and other sites (2) were detected by RT-PCR alone. Importantly, none of the patients with localized disease diagnosed had micrometastases detected by RT-PCR in bone marrow. Conclusions: The high sensitivity and specificity of RT-PCR for the characteristic fusion transcripts of pediatric sarcomas make it an ideal method to aid in the routine staging of these patients. In addition, the 100% sensitivity of RT-PCR in detection of micrometastasis makes it useful for follow-up and detection of minimal residual disease. However, the clinical significance of molecularly-detectable disease remains unknown. Further studies should aim to elucidate the therapeutic acid prognostic implications of micrometastases detected by RT-PCR alone.
引用
收藏
页码:99 / 104
页数:6
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