良性或惡性組織中的基因異常預(yù)測(cè)前列腺癌復(fù)發(fā),，一項(xiàng)有關(guān)更高效、準(zhǔn)確技術(shù)的研究論文發(fā)表在American Journal of Pathology雜志上,。
2012年5月7日，主動(dòng)監(jiān)測(cè)50歲以上的血清前列腺特異性抗原（PSA）的水平已大大提高了前列腺癌的早期檢測(cè),，但診斷后臨床結(jié)果的預(yù)測(cè)仍然是一個(gè)重大的挑戰(zhàn),。匹茲堡大學(xué)醫(yī)學(xué)院的研究人員發(fā)現(xiàn)在前列腺癌以及相鄰的腫瘤良性前列腺組織和前列腺癌患者血液中一個(gè)基因異常拷貝數(shù)變異（CNV）,，可以預(yù)測(cè)病人是否會(huì)復(fù)發(fā)以及復(fù)發(fā)的性質(zhì)：侵略性或惰性,。研究報(bào)告發(fā)表在美國(guó)病理學(xué)雜志。
基因拷貝數(shù)變異是指DNA片段大小范圍從kb到Mb的亞微觀突變,，是一可能具有致病性,、良性或未知臨床意義的基因組改變。美國(guó)匹茲堡大學(xué)醫(yī)學(xué)院病理科分子和細(xì)胞病理學(xué)分部副教授Jian-Hua Luo博士說： 我們的分析表明,，CNV的發(fā)生于癌癥和非癌癥組織中,，這些組織的CNV可預(yù)測(cè)前列腺癌的進(jìn)展。預(yù)測(cè)前列腺癌復(fù)發(fā)或手術(shù)后的PSA水平的提高率的預(yù)測(cè)模型,，是由腫瘤或良性前列腺癌旁組織癌樣本中生成而來的,。
為了檢測(cè)到異常，科學(xué)家進(jìn)行了全面的基因組分析,，從接受前列腺癌根治術(shù)的男性中獲得238例樣本：104前列腺腫瘤樣本,，85個(gè)血液樣本，前列腺患者癌和49例良性前列腺組織樣本,。在不到四個(gè)月的時(shí)間里,，三分之一的樣本顯示PSA水平快速上升，三分之一的樣本PSA水平上升緩慢,，三分之一的樣本顯示手術(shù)后無復(fù)發(fā)超過5年,。
運(yùn)用腫瘤基因特異性的CNV，該模型正確預(yù)測(cè)的73％為復(fù)發(fā)病例,。從鄰近的前列腺腫瘤的組織CNV模型正確預(yù)測(cè)67％的復(fù)發(fā)病例,。從血液中位數(shù)大小的CNV來看，基因模型正確預(yù)測(cè)81％的復(fù)發(fā)的情況下，69％的PSA倍增時(shí)間短,。
Luo醫(yī)生指出,，有幾個(gè)潛在的CNV測(cè)試具有臨床應(yīng)用前景。 對(duì)于診斷患有前列腺癌的病人,，對(duì)血液或正常組織做CNV分析,，將消除需要額外的侵入性程序以決定治療模式。對(duì)于一個(gè)已經(jīng)有前列腺癌根治術(shù)的病人,，對(duì)腫瘤新生血管或血液樣本分析可能有助于決定是否額外的治療是必要的,，以防止復(fù)發(fā)。（生物谷：Bioon.com）
doi:10.1016/j.ajpath.2011.12.021
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Gene Deletions and Amplifications in Human Hepatocellular Carcinomas:
Michael A. Nalesnik, George Tse, Ying Ding, Guo-Sheng Xiang, Zhong-liang Zheng, YanPing Yu,et al.
Tissues from 98 human hepatocellular carcinomas (HCCs) obtained from hepatic resections were subjected to somatic copy number variation (CNV) analysis. Most of these HCCs were discovered in livers resected for orthotopic transplantation, although in a few cases, the tumors themselves were the reason for the hepatectomies. Genomic analysis revealed deletions and amplifications in several genes, and clustering analysis based on CNV revealed five clusters. The LSP1 gene had the most cases with CNV (46 deletions and 5 amplifications). High frequencies of CNV were also seen in PTPRD (21/98), GNB1L (18/98), KIAA1217 (18/98), RP1-1777G6.2 (17/98), ETS1 (11/98), RSU1 (10/98), TBC1D22A (10/98), BAHCC1 (9/98), MAML2 (9/98), RAB1B (9/98), and YIF1A (9/98). The existing literature regarding hepatocytes or other cell types has connected many of these genes to regulation of cytoskeletal architecture, signaling cascades related to growth regulation, and transcription factors directly interacting with nuclear signaling complexes. Correlations with existing literature indicate that genomic lesions associated with HCC at the level of resolution of CNV occur on many genes associated directly or indirectly with signaling pathways operating in liver regeneration and hepatocyte growth regulation.
