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口腔白斑的分子、基因组和突变特征。

Molecular, genomic and mutational landscape of oral leukoplakia.

机构信息

Australian Centre for Oral Oncology Research & Education, Nedlands, WA, Australia.

Perth Oral Medicine & Dental Sleep Centre, West Leederville, WA, Australia.

出版信息

Oral Dis. 2021 May;27(4):803-812. doi: 10.1111/odi.13608. Epub 2020 Sep 9.

Abstract

Oral leukoplakia (OLK) and its more aggressive clinical variant proliferative verrucous leukoplakia (PVL) remain enigmatic disorders clinically and histopathologically. Despite decades of research into both, there has been only incremental advancement in our understanding of their aetiology and pathogenesis and only minimal improvement in effective management strategies. Currently, no specific prognostic genetic or molecular marker has been reported for leukoplakia. There is, however, an emerging body of evidence characterising the genomic and transcriptomic profile of OLK. Regardless of the significance of cellular and architectural features of OLK and PVL, it is clear from studies reported in this review that new emerging evidence points to the presence of premalignant molecular subtypes of leukoplakia which require further investigation. This up-to-date review explores the contemporary genomic, transcriptomic and mutational landscape of leukoplakia broadly, discusses concepts that may not be widely recognised or accepted and purposefully highlights studies with juxtaposed findings in an effort to challenge dogma. It also highlights the urgent need for a concerted international effort of original collaborative research which will only occur by pooling collective efforts, resources and intellect to define the molecular fingerprint of this enigmatic disorder, in the hope it will better inform diagnosis, stratification and treatment.

摘要

口腔白斑病(OLK)及其更具侵袭性的临床变异增殖性疣状白斑病(PVL)在临床上和组织病理学上仍然是神秘的疾病。尽管对这两种疾病进行了几十年的研究,但我们对其病因和发病机制的理解仅略有进展,对有效管理策略的改善也微乎其微。目前,尚未报道针对白斑病的特定预后遗传或分子标志物。然而,有越来越多的证据表明 OLK 的基因组和转录组特征。无论 OLK 和 PVL 的细胞和结构特征有何意义,从本综述中报告的研究中可以清楚地看出,新出现的证据表明存在需要进一步研究的癌前分子亚型的白斑病。本最新综述广泛探讨了白斑病的当代基因组、转录组和突变景观,讨论了可能未被广泛认识或接受的概念,并有意强调了具有并置发现的研究,以努力挑战传统观念。它还强调了迫切需要开展协调一致的国际合作原始研究,只有通过汇集集体努力、资源和智慧来定义这种神秘疾病的分子特征指纹,才能更好地为诊断、分层和治疗提供信息。

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