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Use of Fluorescence In Situ Hybridization (FISH) in Diagnosis and Tailored Therapies in Solid Tumors

机译:荧光原位杂交(FISH)在实体瘤诊断和量身定制治疗中的应用

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摘要

Fluorescence in situ hybridization (FISH) is a standard technique used in routine diagnostics of genetic aberrations. Thanks to simple FISH procedure is possible to recognize tumor-specific abnormality. Its applications are limited to designed probe type. Gene rearrangements e.g., , reflecting numerous translocational partners, deletions of critical regions e.g., 1p and 19q, gene fusions e.g., , genomic imbalances e.g., 6p, 6q, 11q and amplifications e.g., are targets in personalized oncology. Confirmation of genetic marker is frequently a direct indication to start specific, targeted treatment. In other cases, detected aberration helps pathologists to better distinguish soft tissue sarcomas, or to state a final diagnosis. Our main goal is to show that applying FISH to formalin-fixed paraffin-embedded tissue sample (FFPE) enables assessing genomic status in the population of cells deriving from a primary tumor or metastasis. Although many more sophisticated techniques are available, like Real-Time PCR or new generation sequencing, FISH remains a commonly used method in many genetic laboratories.
机译:荧光原位杂交(FISH)是用于遗传畸变常规诊断的标准技术。由于采用了简单的FISH程序,因此可以识别特定于肿瘤的异常。它的应用仅限于设计的探头类型。基因重排(例如反映许多易位伴侣),关键区域(例如1p和19q)的缺失,基因融合(例如)基因组失衡(例如6p,6q,11q)和扩增(例如)是个性化肿瘤学的目标。遗传标记的确认通常直接指示开始特定的靶向治疗。在其他情况下,检测到的像差可帮助病理学家更好地区分软组织肉瘤或做出最终诊断。我们的主要目标是表明,将FISH应用于福尔马林固定石蜡包埋的组织样本(FFPE),可以评估源自原发性肿瘤或转移的细胞群中的基因组状态。尽管可以使用许多更复杂的技术,例如实时PCR或新一代测序,但FISH仍是许多遗传实验室中常用的方法。

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