Early detection of the PAX3-FOXO1 fusion gene in circulating tumor-derived DNA in a case of alveolar rhabdomyosarcoma
Early detection of the PAX3-FOXO1 fusion gene in circulating tumor-derived DNA in a case of alveolar rhabdomyosarcoma
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DOI：
10.1002/gcc.22734
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发表时间：
2019-08-01
影响因子：
3.7
通讯作者：
Eguchi, Mariko
中科院分区：
文献类型：
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作者：
Eguchi-Ishimae, Minenori;Tezuka, Mari;Eguchi, Mariko
无细胞DNA（cfDNA）是血液中来自死亡细胞（包括肿瘤细胞）的小DNA片段，可以作为有用的生物标志物，并提供有关肿瘤的有价值的遗传信息。cfDNA现在用于几种类型癌症的遗传分析，作为肿瘤活检的替代物，称为液体活检。横纹肌肉瘤（RMS）是儿童期最常见的软组织肿瘤，可发生在身体的任何部位，放射成像是估计肿瘤负荷的唯一可用方法，因为血液中不存在有用的特异性生物标志物。由于肿瘤体积是治疗反应和结果的决定因素之一，因此诊断时的早期检测以及复发对于改善治疗结果至关重要。一名15岁男性患者被诊断为前列腺起源的腺泡状RMS伴骨髓侵犯。在骨髓中的肿瘤细胞中鉴定出PAX 3-FOXO 1融合。诊断后，连续收集cfDNA以检测作为肿瘤标志物的PAX 3-F0 X 01融合序列。cfDNA可能是检测融合基因的合适来源;使用cfDNA的测定已被证明可用于肿瘤进展/复发的早期检测。此外，通过定量聚合酶链反应估计的融合基因剂量反映了治疗过程中的肿瘤体积。我们建议对于融合基因阳性的RMS和其他软组织肿瘤，应使用融合序列监测体内肿瘤负荷，以确定患者的诊断和治疗方案。
Cell-free DNA (cfDNA), which are small DNA fragments in blood derived from dead cells including tumor cells, could serve as useful biomarkers and provide valuable genetic information about the tumors. cfDNA is now used for the genetic analysis of several types of cancers, as a surrogate for tumor biopsy, designated as liquid biopsy. Rhabdomyosarcoma (RMS), the most frequent soft tissue tumor in childhood, can arise in any part of the body, and radiological imaging is the only available method for estimating the tumor burden, because no useful specific biological markers are present in the blood. Because tumor volume is one of the determinants of treatment response and outcome, early detection at diagnosis as well as relapse is essential for improving the treatment outcome. A 15-year-old male patient was diagnosed with alveolar RMS of prostate origin with bone marrow invasion. The PAX3-FOXO1 fusion was identified in the tumor cells in the bone marrow. After the diagnosis, cfDNA was serially collected to detect the PAX3-FOXO1 fusion sequence as a tumor marker. cfDNA could be an appropriate source for detecting the fusion gene; assays using cfDNA have proved to be useful for the early detection of tumor progression/recurrence. Additionally, the fusion gene dosage estimated by quantitative polymerase chain reaction reflected the tumor volume during the course of the treatment. We suggest that for fusion gene-positive RMSs, and other soft tissue tumors, the fusion sequence should be used for monitoring the tumor burden in the body to determine the diagnosis and treatment options for the patients.