Zhang Yawei, Dai Ying, Zheng Tongzhang, Ma Shuangge
School of Public Health, Yale University, 60 College ST, New Haven, CT 06520, USA.
Expert Opin Med Diagn. 2011 Nov 1;5(6):539-550. doi: 10.1517/17530059.2011.618185.
Despite decades of intensive research, Non-Hodgkin Lymphoma (NHL) remains poorly understood and is largely incurable. NHL is a heterogeneous group of malignancies with multiple subtypes, each of which has distinct morphologic, immunophenotypic, and clinical features. Identifying the risk factors for NHL may improve our understanding of the underlying biological mechanisms and have an impact on clinical practice. AREAS COVERED: This article provides a review of several aspects of NHL, including epidemiology and subtype classification, clinical, environmental, genetic, and genomic risk factors identified for etiology and prognosis, and available statistical and bioinformatics tools for identification of genetic and genomic risk factors from the analysis of high-throughput studies. EXPERT OPINION: Multiple clinical and environmental risk factors have been identified. However, they have failed to provide practically effective prediction. Genetic and genomic risk factors identified from high-throughput studies have suffered a lack of reproducibility. The identification of genetic/genomic risk factors demands innovative statistical and bioinformatics tools. Although multiple analysis methods have been developed, there is still room for improvement. There is a critical need for well-designed, prospective, large-scale pangenomic studies.
尽管经过数十年的深入研究,非霍奇金淋巴瘤(NHL)仍未被充分了解,且大多无法治愈。NHL是一组异质性恶性肿瘤,有多种亚型,每种亚型都有独特的形态学、免疫表型和临床特征。确定NHL的风险因素可能会增进我们对潜在生物学机制的理解,并对临床实践产生影响。
本文综述了NHL的几个方面,包括流行病学和亚型分类、已确定的病因和预后的临床、环境、遗传和基因组风险因素,以及用于从高通量研究分析中识别遗传和基因组风险因素的现有统计和生物信息学工具。
已确定了多种临床和环境风险因素。然而,它们未能提供切实有效的预测。从高通量研究中确定的遗传和基因组风险因素缺乏可重复性。识别遗传/基因组风险因素需要创新的统计和生物信息学工具。尽管已经开发了多种分析方法,但仍有改进空间。迫切需要设计良好的前瞻性大规模泛基因组研究。