West D C, Grier H E, Swallow M M, Demetri G D, Granowetter L, Sklar J
Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA.
J Clin Oncol. 1997 Feb;15(2):583-8. doi: 10.1200/JCO.1997.15.2.583.
To determine the feasibility of detecting Ewing's sarcoma (ES) or peripheral primitive neuroectodermal tumor (PNET) through a reverse-transcriptase polymerase chain reaction (RT-PCR) of the t(11;22)(q24;q12) fusion transcript in blood and bone marrow samples from patients with these neoplasms.
Peripheral-blood (PB) and/or bone marrow aspirate (BM) samples were obtained from 28 patients with ES or PNET at initial presentation or at relapse. Patients were divided into two groups: newly diagnosed patients with nonmetastatic disease and those with metastatic/relapsed disease. RNA was extracted from fractionated BM and PB samples, and RT-PCR was performed for the EWS/HumFLI1 fusion mRNA was transcribed across the t(11;22) breakpoint.
Among the 16 patients with nonmetastatic disease, three of 16 were RT-PCR positive for EWS/HumFLI1 RNA in BM and three of 10 were positive in PB. The total number of nonmetastatic patients who were positive in either PB or BM was four of 16 (25%). Among patients with metastatic/relapsed disease, two of six were positive in BM and five of 10 were positive in PB. The total fraction of patients with metastatic/relapsed disease that was positive in either BM or PB was six of 12 (50%).
In this study, we show that it is possible to amplify the EWS/HumFLI1 RNA by RT-PCR from the BM and PB of a subset of patients with both nonmetastatic and metastatic ES or PNET, which implies that occult tumor cells are present at these sites. The true biologic and clinical meaning of this information is unknown. However, it does suggest a possible application of RT-PCR for the monitoring of residual disease in patients who are undergoing therapy for ES or PNET. This approach may permit early identification of patients who may benefit from alternative therapy or who may be spared possible overtreatment.
通过对患有尤因肉瘤（ES）或外周原始神经外胚层肿瘤（PNET）的患者血液和骨髓样本中的t(11;22)(q24;q12)融合转录本进行逆转录聚合酶链反应（RT-PCR），来确定检测这些肿瘤的可行性。
从28例初诊或复发的ES或PNET患者中获取外周血（PB）和/或骨髓穿刺液（BM）样本。患者分为两组：新诊断的非转移性疾病患者和转移性/复发性疾病患者。从分离的BM和PB样本中提取RNA，并对EWS/HumFLI1融合mRNA进行RT-PCR，该融合mRNA是通过t(11;22)断点转录而来。
在16例非转移性疾病患者中，16例中有3例BM中的EWS/HumFLI1 RNA RT-PCR呈阳性，10例中有3例PB呈阳性。PB或BM中呈阳性的非转移性患者总数为16例中的4例（25%）。在转移性/复发性疾病患者中，6例中有2例BM呈阳性，10例中有5例PB呈阳性。BM或PB中呈阳性的转移性/复发性疾病患者总数为12例中的6例（50%）。
在本研究中，我们表明通过RT-PCR可以从部分非转移性和转移性ES或PNET患者的BM和PB中扩增出EWS/HumFLI1 RNA，这意味着这些部位存在隐匿性肿瘤细胞。该信息的真正生物学和临床意义尚不清楚。然而，这确实提示了RT-PCR在监测ES或PNET治疗患者残留疾病方面的可能应用。这种方法可能有助于早期识别可能从替代治疗中获益或可能避免过度治疗的患者。
