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首页> 外文期刊>Medical and Pediatric Oncology: The Official Journal of the American Association for Cancer Education >Clinically critical impact of molecular genetic studies in pediatric solid tumors.
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Clinically critical impact of molecular genetic studies in pediatric solid tumors.

机译：分子遗传学研究在小儿实体瘤中的临床关键影响。

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BACKGROUND: Standard cytogenetic techniques are time-consuming and often not informative with solid tumors. In contrast, the reverse transcriptase-polymerase chain reaction (RT-PCR) is a readily available technique that can rapidly detect tumor-specific chromosomal rearrangements, even in small biopsy specimens. We present cases depicting the importance of including molecular diagnostic studies in the routine evaluation of pediatric solid tumors. PROCEDURE: We used RT-PCR to detect chimeric transcripts specific for major pediatric solid tumors, including peripheral primitive neuroectodermal tumor (pPNET), alveolar rhabdomyosarcoma (ARMS), and desmoplastic small round-cell tumor (DSRCT). We reviewed six recent cases in which the initial diagnosis was changed by the results of RT-PCR. RESULTS: Highly unusual or nonspecific clinical and/or histopathologic findings led to the initial diagnoses of neuroblastoma in three patients and DSRCT, leukemia, and carcinoma in one patient each. The final diagnoses after RT-PCR studies were pPNET in three patients, ARMS in two patients, and DSRCT in one patient. RT-PCR results led to early corrections in the diagnosis in two patients, but four patients received treatment not considered optimal for the neoplasms ultimately diagnosed, including three who, despite presenting with localized tumors that have a >70% cure rate with standard therapy, have died or are dying of disease. CONCLUSIONS: Molecular genetic studies on solid tumors can clarify the diagnosis in seemingly straightforward as well as in overtly problematic cases. These diagnostic distinctions are now critical as disease-specific and risk-directed therapies have emerged. Copyright 1999 Wiley-Liss, Inc.
机译：背景：标准的细胞遗传学技术很耗时，而且通常对实体瘤没有帮助。相比之下，逆转录聚合酶链反应（RT-PCR）是一种现成的技术，即使在小型活检标本中，也可以快速检测肿瘤特异性染色体重排。我们提出的病例描述了在儿科实体瘤的常规评估中包括分子诊断研究的重要性。程序：我们使用RT-PCR检测主要儿童小儿实体瘤特异性的嵌合转录本，包括外周原始神经外胚层肿瘤（pPNET），肺泡横纹肌肉瘤（ARMS）和增生性小圆形细胞瘤（DSRCT）。我们回顾了六例最近的病例，其中RT-PCR的结果改变了最初的诊断。结果：高度异常或非特异性的临床和/或组织病理学发现导致3例患者首次诊断为神经母细胞瘤，DSTCT，白血病和癌症分别诊断为1例。 RT-PCR研究后的最终诊断为3例患者为pPNET，2例患者为ARMS，1例患者为DSRCT。 RT-PCR结果导致2例患者的诊断得到了早期纠正，但是4例患者接受了对于最终诊断出的肿瘤不是最佳选择的治疗，其中3例尽管存在局部肿瘤，但采用标准疗法治愈率> 70％，已经死亡或垂死。结论：对实体瘤的分子遗传学研究可以澄清看似直接以及存在问题的病例的诊断。随着特定疾病和风险导向疗法的出现，这些诊断区别变得至关重要。版权所有1999 Wiley-Liss，Inc.

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