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脑肿瘤诊断从数周缩短至数小时,得益于英国国民医疗服务体系的新型快速检测

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作者:Fergus Walsh英国国家医疗服务体系(NHS)已开始使用一种针对脑肿瘤的快速新检测技术,可将准确诊断所需时间从长达八周缩短至两小时。

A rapid new test for brain tumours that the NHS has started using can slash the time it takes for an accurate diagnosis from up to eight weeks to two hours.

该检测供医生用于确诊患者患有哪种类型的肿瘤,这意味着患者能更早开始包括放疗和化疗在内的治疗,并免去数周的焦虑等待。

The test, which is used by doctors to diagnose which type of tumour a patient has, should mean patients can start treatment including radiotherapy and chemotherapy sooner, and are spared weeks of uncertainty.

来自诺丁汉的55岁患者Steve Palmer是受益于这项新技术的患者之一——这项检测让外科医生在为他切除肿瘤的手术过程中就能拿到结果。"快速确诊让我免去了数周的焦虑,"他告诉BBC。

Steve Palmer, 55, from Nottingham, is among those to benefit from the new technology - and it meant surgeons were able to get his result while they were still operating to remove his tumour. "Getting that quick diagnosis removed weeks of anxiety," he told the BBC.

NHS英格兰表示,这项通过快速分析肿瘤样本基因密码进行的基因组检测,将在英格兰各地的专科中心进行试点。

NHS England said that the genomic test, which works by quickly analysing the genetic code of a sample of the tumour, will be piloted in specialist centres around England.

脑肿瘤约有150种不同类型,从生长缓慢到侵袭性癌症不等,每种类型对治疗的反应可能截然不同。

There are around 150 different types of brain tumour ranging from slow-growing to aggressive cancers, each of which can respond differently to treatment.

Steve在健身房晕倒后被确诊患有脑肿瘤,检测显示为4级胶质母细胞瘤。"虽然这不是我想听到的结果,但这意味着我可以进入下一阶段的治疗和康复,继续对抗我必须面对的一切,"他告诉BBC。

Steve was diagnosed with a brain tumour after he collapsed at the gym, and the test revealed it to be a grade 4 glioblastoma. "It wasn't the result I wanted to hear but it means I can get on with the next phase of treatment and recovery, and get on with fighting whatever it is I've got to fight," he told the BBC.

在诺丁汉大学医院NHS信托旗下的女王医疗中心为Steve实施手术的神经外科顾问医生Stuart Smith告诉BBC,这项检测"简直近乎神奇"。"脑肿瘤的诊断依赖分子和基因分析,但获取完整信息可能需要长达六到八周。而这项检测在我们手术进行时就已完成。" 在患者仍在手术台上时确诊肿瘤类型,可能会影响外科医生的手术方式。Smith解释道:"对于某些可治愈的肿瘤类型,手术需要尽可能彻底,切除我们能找到的每一处肿瘤组织。"

Consultant neurosurgeon Stuart Smith, who led Steve's operation at Queens Medical Centre, part of Nottingham University Hospitals NHS Trust, told the BBC the test "seems almost magical." "The diagnosis of brain tumours relies on molecular and genetic analysis but it can take up to six to eight weeks to get the full information back. Here it is done while we are still operating." Diagnosing the type of tumour while the patient is still on the operating table could impact how surgeons operate. Smith explained: "For some tumour types, which are curable, surgery needs to be as radical as possible to remove every last bit of tumour that we can find.

遗憾的是,其他类型的肿瘤侵袭性太强,且超出了手术切除的范围,因此我们会更加谨慎,以降低对大脑造成损伤的风险。”这项测试的工作原理是将从肿瘤中提取的小块组织样本送往病理实验室。

"Other types, sadly, are too aggressive, and beyond what surgery can remove, so we would be more cautious in order to lower the risk of causing damage to the brain." The test works by sending small tissue samples taken from the tumour to the pathology lab.

这些样本会被处理并装入一台由牛津纳米孔技术公司(Oxford Nanopore)制造的鞋盒大小的测序仪中。该设备使用由诺丁汉大学与医院临床医生合作开发的专业软件。DNA分子穿过纳米孔(一个微小的孔洞),从而揭示出肿瘤独特的基因组指纹。

The samples are prepared for loading into a shoebox-sized sequencing machine made by Oxford Nanopore, which uses specialist software developed at the University of Nottingham, in partnership with hospital clinicians. The molecules of DNA pass through a nanopore - a tiny hole - which reveals the tumour's unique genomic fingerprint.

在史蒂夫的病例中,纳米孔测序仪运行20分钟后,神经病理学团队便致电手术室,告知他们该肿瘤很可能是胶质母细胞瘤。

In Steve's case, after the nanopore machine was running for 20 minutes, the neuropathology team called the theatre to tell them that the tumour was likely to be a glioblastoma.

诺丁汉大学医院国民保健署信托基金会(Nottingham University Hospitals NHS Trust)的神经病理学顾问西蒙·佩恩(Simon Paine)博士解释说,与他通过显微镜观察肿瘤细胞所能做出的判断相比,这种基因组测试具有变革性意义。

Dr Simon Paine, consultant neuropathologist at Nottingham University Hospitals NHS Trust, explained that the genomic test was transformative in comparison to what he could determine by looking at tumour cells down a microscope.

他说:“我是在进行推测,虽然在状态好的时候能做得相当不错,但远不及纳米孔测序仪那样清晰,它能提供全面的分子分类。”

"I'm crystal ball gazing and can do it reasonably well on a good day, but nowhere near with the clarity of the nanopore, which gives a comprehensive molecular classification," he said.

英国每年有超过12,000人被诊断出患有原发性脑肿瘤。它是导致儿童和40岁以下成人死亡人数最多的癌症。

More than 12,000 people in the UK are diagnosed with a primary brain tumour each year. It is the biggest cancer killer of children and adults under 40.

英国国民保健署(NHS)医学主任弗兰基·斯沃兹(Frankie Swords)教授表示:“对于疑似脑肿瘤的患者来说,快速获得准确的诊断就像是在与时间赛跑,而等待数周才能得到结果对患者及其家人来说是一种煎熬。”

Prof Frankie Swords, NHS medical director, said: "For people with suspected brain tumours, getting the right diagnosis quickly can feel like a race against time, while waiting weeks for answers can be agonising for them and their families. "This remarkable rapid test has the potential to completely transform how we diagnose brain tumours, with results reaching patients in a matter of days rather than weeks.

“这种卓越的快速测试有可能彻底改变我们诊断脑肿瘤的方式,让患者在几天内而非几周内就能拿到结果。”

"This is a huge leap forward for patients - a faster diagnosis means they can start the right treatment or access clinical trials sooner, while for some patients it could mean surgeons can make potentially life-changing decisions about their surgery while on the operating table." The NHS England pilot will involve five specialist centres in Nottingham, Birmingham, London and Newcastle - they are Nottingham University Hospitals NHS Trust, University Hospitals Birmingham NHS Foundation Trust, Great Ormond Street Hospital NHS Foundation Trust, King's College Hospital and Newcastle Hospitals NHS Foundation Trust.

这对患者而言是一个巨大的飞跃——更快的诊断意味着他们能更早开始正确的治疗或参加临床试验,而对某些患者来说,这可能意味着外科医生能在手术台上做出可能改变其命运的手术决策。

"This is a huge leap forward for patients - a faster diagnosis means they can start the right treatment or access clinical trials sooner, while for some patients it could mean surgeons can make potentially life-changing decisions about their surgery while on the operating table." The NHS England pilot will involve five specialist centres in Nottingham, Birmingham, London and Newcastle - they are Nottingham University Hospitals NHS Trust, University Hospitals Birmingham NHS Foundation Trust, Great Ormond Street Hospital NHS Foundation Trust, King's College Hospital and Newcastle Hospitals NHS Foundation Trust.

英国国家医疗服务体系(NHS)英格兰试点项目将涉及诺丁汉、伯明翰、伦敦和纽卡斯尔的五家专科中心——分别是诺丁汉大学医院NHS信托、伯明翰大学医院NHS基金会信托、大奥蒙德街医院NHS基金会信托、国王学院医院和纽卡斯尔医院NHS基金会信托。随后将扩展至布里斯托、牛津、利兹和曼彻斯特的站点。该试点建立在诺丁汉和伯明翰已在进行的早期项目基础之上。

It will later be extended to sites in Bristol, Oxford, Leeds and Manchester. The pilot builds on an earlier project already under way in Nottingham and Birmingham.

英格兰首席科学官兼NHS基因组学高级负责人苏·希尔教授表示:"这是NHS基因组学又一项世界领先的发展,将开创性科学应用于检验如何在患者护理中安全、一致地使用它。"快速基因组检测可大幅缩短脑肿瘤患者等待结果的时间,在某些情况下,甚至能在手术结束前为外科医生提供关键信息。"我们的目标是为此类检测成为常规NHS医疗服务的一部分构建证据基础,使全国患者能平等受益于更快、更精准的诊断。"

Prof Dame Sue Hill, chief scientific officer for England and senior responsible officer for genomics in the NHS, said: "This is another world-leading development for NHS genomics, taking pioneering science and testing how we can use it safely and consistently in patient care. "Rapid genomic testing could dramatically shorten the wait for answers for brain tumour patients and, in some cases, give surgeons vital information before an operation is even over. "Our ambition is to build the evidence for this testing to become part of routine NHS care, so patients across the country can benefit equally from faster, more precise diagnosis."

史密斯补充道:"对患者而言,这不仅意味着更快获得结果和治疗,还因为我们拥有肿瘤的完整基因图谱,能更快进入临床试验。"

Smith added: "For patients it will mean not only mean quicker access to results and treatment, but because we have a full genetic profile of the tumour, more rapid access to clinical trials."