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通过细针穿刺活检标本的转录组分析进行葡萄膜黑色素瘤的预后检测。

Prognostic testing in uveal melanoma by transcriptomic profiling of fine needle biopsy specimens.

作者信息

Onken Michael D, Worley Lori A, Dávila Rosa M, Char Devron H, Harbour J William

机构信息

Box 8096, 660 South Euclid Ave., St. Louis, MO 63124, USA.

出版信息

J Mol Diagn. 2006 Nov;8(5):567-73. doi: 10.2353/jmoldx.2006.060077.

DOI:10.2353/jmoldx.2006.060077
PMID:17065425
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1876164/
Abstract

Many uveal melanoma patients die of metastasis despite ocular treatment. Transcriptomic profiling of enucleated tumors can identify patients at high metastatic risk. Because most uveal melanomas do not require enucleation, a biopsy would be required for this analysis. Here, we establish the feasibility of transcriptomic analysis of uveal melanomas from fine needle aspirates. Transcriptomic profiles were analyzed from postenucleation "mock" needle biopsies and matching tumors from eight enucleated eyes and from fine needle aspirates in 17 uveal melanomas before radiotherapy. Predictive accuracy was assessed using a weighted voting classifier optimized for probe set selection using a minimal redundancy/maximum relevance algorithm. Transcriptomic profiles from mock biopsies were highly similar to those from their matching tumor samples (P < 0.0001). Transcriptomic profiles from fine needle aspirates clustered into two classes with discriminating probe sets that overlapped significantly with those for our published classification (P < 0.00001). No loss of predictive accuracy was identified among eight needle aspirates obtained from a distant location. Thus, it is feasible to obtain RNA of adequate quality and quantity to perform transcriptomic analysis on uveal melanoma samples obtained by fine needle biopsy. This method can be applied to specimens obtained from distant geographic locations and can stratify uveal melanoma patients based on metastatic risk.

摘要

尽管进行了眼部治疗,许多葡萄膜黑色素瘤患者仍死于转移。对摘除眼球的肿瘤进行转录组分析可以识别出高转移风险的患者。由于大多数葡萄膜黑色素瘤不需要摘除眼球,因此需要进行活检来进行这种分析。在此,我们确定了对细针穿刺抽吸获得的葡萄膜黑色素瘤进行转录组分析的可行性。对8只摘除眼球后的“模拟”针吸活检样本及其匹配的肿瘤组织以及17例放疗前葡萄膜黑色素瘤的细针穿刺抽吸样本进行了转录组分析。使用一种通过最小冗余/最大相关性算法优化探针集选择的加权投票分类器评估预测准确性。模拟活检的转录组谱与其匹配的肿瘤样本高度相似(P < 0.0001)。细针穿刺抽吸样本的转录组谱聚为两类,具有与我们已发表分类中显著重叠的鉴别探针集(P < 0.00001)。从远处获取的8个针吸活检样本中未发现预测准确性的损失。因此,从细针活检获得的葡萄膜黑色素瘤样本中获取足够质量和数量的RNA以进行转录组分析是可行的。该方法可应用于从遥远地理位置获取的标本,并可根据转移风险对葡萄膜黑色素瘤患者进行分层。

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