Publications

Publication: International Journal of Stroke

Stefania Nannoni , Rosa de Groot, Steven Bell, Hugh S Markus

26 October 2020

Summary:

Fourteen out of every 1,000 COVID-19 patients admitted to hospital experience a stroke, a rate that is even higher in older patients and those with severe infection and pre-existing vascular conditions.

A team of researchers at the Stroke Research Group, carried out a systematic review and meta-analysis of published research into the link between COVID-19 and stroke. In total, the researchers analysed 61 studies, covering more than 100,000 patients admitted to hospital with COVID-19. The researchers found that stroke occurred in 14 out of every 1,000 cases. The most common manifestation was acute ischemic stroke, which occurred in just over 12 out of every 1,000 cases. Brain haemorrhage was less common, occurring in 1.6 out of every 1,000 cases. Most patients had been admitted with COVID-19 symptoms, with stroke occurring a few days later.

Read the full news story

Publication: Journal of Neurology, Neurosurgery & Psychiatry

Maura Malpetti, Timothy Rittman, Peter Simon Jones, Thomas Edmund Cope, Luca Passamonti, William Richard Bevan-Jones, Karalyn Patterson, Tim D Fryer, Young T Hong, Franklin I Aigbirhio, John Tiernan O’Brien, James Benedict Rowe

29 October 2020

The researchers report in vivo patterns of neuroinflammation and abnormal protein aggregation in seven cases of familial frontotemporal dementia (FTD) with mutations in MAPT, GRN and C9orf72 genes.

Patients with familial FTD across all mutation groups showed increased [11C]PK11195 binding predominantly in frontotemporal regions, with additional regions showing abnormalities in individuals. Patients with MAPT mutations had a consistent distribution of [18F]AV-1451 binding across the brain, with heterogeneous distributions among carriers of GRN and C9orf72 mutations.

This case series suggests that neuroinflammation is part of the pathophysiology of familial FTD, warranting further consideration of immunomodulatory therapies for disease modification and prevention.

Publication: Small

Sunjie Ye, Arsalan A. Azad, Joseph E. Chambers, Alison J. Beckett, Lucien Roach, Samuel C. T. Moorcroft, Zabeada Aslam, Ian A. Prior, Alexander F. Markham, P. Louise Coletta, Stefan J. Marciniak, Stephen D. Evans

25 October 2020

Summary:

More than 2,600 people are diagnosed in the UK each year with mesothelioma, a malignant form of cancer caused by exposure to asbestos and can be hard to treat.

In a collaboration between the University of Cambridge and University of Leeds, researchers have developed a form of gold nanotubes whose physical properties are ‘tunable’ – in other words, the team can tailor the wall thickness, microstructure, composition, and ability to absorb particular wavelengths of light.

The researchers added the nanotubes to mesothelioma cells cultured in the lab and found that they were absorbed by the cells, residing close to the nucleus, where the cell’s DNA lies. When the team targeted the cells with a laser, the nanotubes absorbed the light and heated up, killing the mesothelioma cell.

Read the full press release

Publication: Cell Stem Cell

Jeonghwan Youk, Taewoo Kim, Kelly V.Evans, Young-IlJeong, Yongsuk Hur, Seon Pyo Hong, Je Hyoung Kim, Kijong Yi, Su Yeon Kim, Kwon JoongNa, Thomas Bleazard, Ho Min Kim, Mick Fellows, Krishnaa T. Mahbubani, Kourosh Saeb-Parsy, Seon Young Kim, Young Tae Kim, Gou YoungKoh, Joo-Hyeon Lee

21 October 2020

Summary:

To better understand how SARS-CoV-2 infects the lungs and causes disease, a team of scientists from the UK and South Korea turned to organoids – ‘mini-organs’ grown in three dimensions to mimic the behaviour of tissue and organs.

The team used tissue donated to tissue banks at the Royal Papworth Hospital NHS Foundation Trust and Addenbrooke’s Hospital, Cambridge University NHS Foundations Trust, UK, and Seoul National University Hospital to extract a type of lung cell known as human lung alveolar type 2 cells. By reprogramming these cells back to their earlier ‘stem cell’ stage, they were able to grow self-organising alveolar-like 3D structures that mimic the behaviour of key lung tissue.

Read the full press release

Publication: Movement Disorders

Samuel Shribman, Carolin Heller, Maggie Burrows, Amanda Heslegrave,Imogen Swift, Martha S. Foiani, Godfrey T. Gillett, Emmanuel A. Tsochatzis, James B. Rowe et al

20 October 2020

Outcomes are unpredictable for neurological presentations of Wilson’s disease (WD). Dosing regimens for chelation therapy vary and monitoring depends on copper indices, which do not reflect end‐organ damage. The objective was to identify a biomarker for neurological involvement in WD.

Unlike copper indices, neurofilament light (NfL) concentrations were higher in neurological than hepatic presentations. They were also higher in those with active neurological disease when controlling for severity and correlated with neurological examination subscores in stable patients.

NfL is a biomarker of neurological involvement with potential use in guiding chelation therapy and clinical trials for novel treatments.

Publication: PLoS Med

Zheng JS, Luan J, Sofianopoulou E, Sharp SJ, Day FR, Imamura F, Gundersen TE et al.

16 October 2020

Why was this study done?

There is ongoing uncertainty on whether the body’s vitamin D status indicated by blood 25-hydroxyvitamin D (25(OH)D) is relevant to the prevention of type 2 diabetes. There are conflicting findings from observational studies and a limited number of randomised controlled trials.

What did the researchers do and find?

The current research compared observational estimates of the association between 25(OH)D metabolites and incident type 2 diabetes with Mendelian randomisation estimates based on genetic instruments.

Using multiple data sources, we performed genome-wide association studies among 120,618 individuals for total 25(OH)D, and among 40,562 individuals for the other vitamin D metabolites. Among participants of European descent, 10 genetic loci were identified for total 25(OH)D, 7 loci for 25(OH)D3 and 3 loci for C3-epi-25(OH)D3.

In meta-analysis of observational studies, we found that each 1–standard deviation higher level of total 25(OH)D was associated with 20% lower risk of type 2 diabetes. The result was similar for 25(OH)D3, but for C3-epi-25(OH)D3, a positive association with type 2 diabetes was found.

With up to 80,983 type 2 diabetes cases and 842,909 controls, we assessed the association of genetically predicted differences in total 25(OH)D and its metabolites with type 2 diabetes. Neither genetically predicted higher total 25(OH)D level nor genetically predicted higher levels of 25(OH)D metabolites were significantly associated with type 2 diabetes.

What do these findings mean?

There were conflicting findings for a link with type 2 diabetes for the observational analysis of biochemically measured 25(OH)D metabolites versus the genetically predicted levels of these metabolites.

The null findings based on Mendelian randomisation analysis indicate that blood levels of 25(OH)D or its metabolites are not likely to be causal factors for the development of type 2 diabetes.

The current findings together with other evidence from randomised controlled trials do not support the use of vitamin D supplementation for the prevention of type 2 diabetes.

Publication: Nordic Journal of Psychiatry

Publication: Brain, Behavior, and Immunity

Emanuele F.Osimo, Benjamin I.Perry, Rudolf N.Cardinal, Mary-EllenLynall, Jonathan Lewis, Arti Kudchadkar, Graham K.Murray, Jesus Perez, Peter B. Jones, Golam M.Khandaker

09 October 2020

Summary:

A study with early intervention mental health service found that sixty percent of people cared for in their first episode of psychosis recovered well.

The research team used a research database to review blood markers and health outcomes for service users, in a longitudinal study of anonymous patient records between January 2013 and November 2019.

Researchers found that around sixty percent of people with first episode psychosis recovered well enough to be discharged to their GP. Several blood markers were consistently higher or lower in other people who required long term specialist psychiatric care. Read the full press story.

Publication: Journal of Psychiatric Research

Chen S, Jones PB, Underwood BR, Moore A, Bullmore ET, Banerjee S, Osimo EF, Deakin JB, Hatfield CF, Thompson FJ, Artingstall JD, Slann MP, Lewis JR, Cardinal RN

22 September 2020

COVID-19 has affected social interaction and healthcare worldwide.

Here researchers examined changes in presentations and referrals to the primary provider of mental health and community health services in Cambridgeshire and Peterborough, UK (population ~0·86 million), plus service activity and deaths.

They conducted interrupted time series analyses with respect to the time of UK “lockdown”, which was shortly before the peak of COVID-19 infections in this area, and examined changes in standardized mortality ratio for those with and without severe mental illness (SMI).

Referrals and presentations to nearly all mental and physical health services dropped at lockdown, with evidence for changes in both supply (service provision) and demand (help-seeking).

This was followed by an increase in demand for some services. This pattern was seen for all major forms of presentation to liaison psychiatry services, except for eating disorders, for which there was no evidence of change.

Inpatient numbers fell, but new detentions under the Mental Health Act were unchanged. Many services shifted from face-to-face to remote contacts. Excess mortality was primarily in the over-70s. There was a much greater increase in mortality for patients with SMI, which was not explained by ethnicity.

In conclusion, the research showed that COVID-19 has been associated with a system-wide drop in the use of mental health services, with some subsequent return in activity. “Supply” changes may have reduced access to mental health services for some. “Demand” changes may reflect a genuine reduction of need or a lack of help-seeking with pent-up demand. There has been a disproportionate increase in death among those with SMI during the pandemic.

Publication: Annals of Neurology

Maura Malpetti, Luca Passamonti, Timothy Rittman, P. Simon Jones, Patricia Vázquez Rodríguez, W. Richard Bevan‐Jones, Young T. Hong, Tim D. Fryer, Franklin I. Aigbirhio, John T. O’Brien, James B. Rowe

20 September 2020

Progressive Supranuclear Palsy (PSP) is associated with tau-protein aggregation and neuroinflammation. In this study the research team mapped these features in the brain of living patients with a brain-scanning technique called positron emission tomography (PET). They examined the relationship between tau pathology and inflammation, and their association with clinical severity.

Tau pathology and neuroinflammation occur in the same parts of the brain of patients with PSP, and they are both linked to the severity of symptoms.

Following this study the research team suggests that the combination of tau- and immune-oriented strategies may be useful for effective disease-modifying treatments in PSP.

Publication: Annals of Neurology

Maura Malpetti, Luca Passamonti, Timothy Rittman, P. Simon Jones, Patricia Vázquez Rodríguez, W. Richard Bevan‐Jones, Young T. Hong, Tim D. Fryer, Franklin I. Aigbirhio, John T. O’Brien, James B. Rowe

20 September 2020

The researchers examined the relationship between tau pathology and neuroinflammation using [11C]PK11195 and [18F]AV‐1451 PET in 17 patients with progressive supranuclear palsy (PSP) Richardson’s syndrome. They tested the hypothesis that neuroinflammation and tau protein aggregation colocalize macroscopically, and correlate with clinical severity.

Regional [11C]PK11195 and [18F]AV‐1451 binding were positively correlated (R = 0.577, p < 0.0001). The PCA identified 4 components for each ligand, reflecting the relative expression of tau pathology or neuroinflammation in distinct groups of brain regions. Positive associations between [11C]PK11195 and [18F]AV‐1451 components’ loadings were found in both subcortical (R = 0.769, p < 0.0001) and cortical regions (R = 0.836, p < 0.0001). There were positive correlations between clinical severity and both subcortical tau pathology (R = 0.667, p = 0.003) and neuroinflammation (R = 0.788, p < 0.001).

The researchers show that tau pathology and neuroinflammation colocalize in PSP, and that individual differences in subcortical tau pathology and neuroinflammation are linked to clinical severity. Although longitudinal studies are needed to determine causal associations between these molecular pathologies, they suggest that the combination of tau‐ and immune‐oriented strategies may be useful for effective disease‐modifying treatments in PSP

Publication: European Neuropsychopharmacology

Rose E, Chen S, Turrion C, Jenkins C, Cardinal RN, Fernández-Egea E

17 September 2020

Approximately one-third of patients presenting with a first episode of psychosis need long-term support, but there is a limited understanding of the sociodemographic or biological factors that predict this outcome. ]

Researchers used electronic health records from a naturalistic cohort of consecutive patients referred to an early intervention in psychosis service to address this question.

They extracted data on demographic (age, sex, ethnicity and marital status), immune and metabolic factors at baseline, and subsequent need for long-term secondary (specialist) psychiatric care.

Of 749 patients with outcome data available, 447 (60%) had a good outcome and were discharged to primary care, while 302 (40%) required follow-up by secondary mental health services indicating a worse outcome.

The need for ongoing secondary mental healthcare was associated with high triglyceride levels, a low basophil:lymphocyte ratio, and a high monocyte count at baseline.

In conclusion, the research provides evidence that triglyceride levels and several blood cell counts measured at presentation may be clinically useful markers of long-term prognosis for first episode psychosis in clinical settings. These findings will require replication.

Publication: Neurology

Beatrice Costa, Claudia Manzoni, Manuel Bernal-Quiros, Demis A Kia, Miquel Aguilar, Ignacio Alvarez, Victoria Alvarez, Ole Andreassen, Maria Anfossi, Silvia Bagnoli, Luisa Benussi, Livia Bernardi, Giuliano Binetti, Daniel Blackburn, Mercè Boada, Barbara Borroni, Lucy Bowns, Geir Bråthen, Amalia C Bruni, Huei-Hsin Chiang, James B Rowe et al

17 September 2020

The researchers sought to characterise C9orf72 expansions in relation to genetic ancestry and age at onset (AAO), and to use these parameters to discriminate the behavioural from the language variant syndrome, in a large pan-European cohort of frontotemporal lobar degeneration (FTLD) cases.

They found C9orf72 pathogenic expansions in 4% of all cases (56/1396). Expansion carriers differently distributed across syndromes: 12/101 FTLD-MNDs (11.9%), 40/800 bvFTDs (5%) and 4/495 of PPAs (0.8%). While addressing population-substructure through principal component analysis (PCA), we defined 2 patients groups with Central/Northern (n=873) and Southern European (n=523) ancestry. The proportion of expansion carriers was significantly higher in bvFTDs compared to PPAs (5% vs. 0.8% [p=2.17×10-5; OR=6.4; CI:2.31-24.99]), as well as in individuals with Central/Northern European compared to Southern European ancestry (4.4% vs. 1.8% [p=1.1×10-2; OR=2.5; CI:1.17-5.99]). Pathogenic expansions and Central/Northern European ancestry independently and inversely correlated with AAO. Their prediction model (based on expansions status, genetic ancestry and AAO) predicted a diagnosis of bvFTD with 64% accuracy.

The results indicate correlation between pathogenic C9orf72 expansions, AAO, PCA-based Central/Northern European ancestry and a diagnosis of bvFTD, implying to complex genetic risk-architectures differently underpinning the behavioural and language variant syndromes.

Publication: BMJ

Deschasaux, M, Huybrechts, I, Julia, C, Hercberg, S, Egnell, M, Srour, B, et al.

16 September 2020

This study looked to see if the Food Standards Agency nutrient profiling system (FSAm-NPS), which grades the nutritional quality of food products and is used to derive the Nutri-Score front-of-packet label to guide consumers towards healthier food choices, is associated with mortality, using the European Prospective Investigation into Cancer and Nutrition (EPIC) cohort from 23 centres in 10 European countries.

More than 500,ooo participants’ dietary questionnaires were analysed to assess their usual dietary intakes. A FSAm-NPS score was calculated for each food item per 100 g content of energy, sugars, saturated fatty acids, sodium, fibre, and protein, and of fruit, vegetables, legumes, and nuts. An overall mean of all foods consumed was also calculated; the higher the score the lower the overall nutritional quality of the diet.

The results showed that consuming foods with a higher FSAm-NPS score (lower nutritional quality) was associated with a higher mortality for all causes and for cancer and diseases of the circulatory, respiratory, and digestive systems, supporting the relevance of FSAm-NPS to characterise healthier food choices in the context of public health policies (eg, the Nutri-Score) for European populations. This is important considering ongoing discussions about the potential implementation of a unique nutrition labelling system at the European Union level.

Publication: Aging

Yerrakalva D, Hajna S, Wijndaele K, Westgate K, Khaw K, Wareham N et al.

12 September 2020

Development of effective strategies to reduce sedentary time among older adults necessitates understanding of its determinants but longitudinal studies of this utilising objective measures are scarce.

Among 1536 older adults (≥60 years) in the EPIC-Norfolk study, sedentary time was assessed for seven days at two time-points using accelerometers. We assessed associations of change in total and prolonged bouts of sedentary time (≥ 30 minutes) with change in demographic and behavioural factors using multi-level regression.

Over follow-up (5.3±1.9 years), greater increases in total sedentary time were associated with older age, being male, higher rate of increase in BMI, lower rate of increase in gardening (0.5 min/day/yr greater sedentary time per hour/week/yr less gardening, 95% CI 0.1, 1.0), a lower rate of increase in walking (0.2 min/day/yr greater sedentary time per hour/week/yr less walking, 95% CI 0.1, 0.3) and a higher rate of increase in television viewing. Correlates of change in prolonged sedentary bouts were similar.

Conclusion: Individuals in specific sub-groups (older, male, higher BMI) and who differentially participate in certain behaviours (less gardening, less walking and more television viewing) but not others increase their sedentary time at a higher rate than others; utilising this information could inform successful intervention content and targeting.

Publication: Neuropsychopharmacology

Rafa Romero-Garcia, Roxanne W. Hook, Jeggan Tiego, Richard A. I. Bethlehem, Ian M. Goodyer, Peter B. Jones, Ray Dolan, Jon E. Grant, Edward T. Bullmore, Murat Yücel & Samuel R. Chamberlain

12 September 2020

Summary

Impulsivity refers to behaviours that are inappropriate, risky, unduly hasty, and that lead to untoward outcomes. By contrast, compulsivity refers to repetitive, perseverative actions that are excessive and inappropriate to a given situation.

For example, an individual with attention-deficit hyperactivity disorder (ADHD) may manifest impulsive problems such as making a statement they regret to a colleague; or jumping a red light; whereas an individual with obsessive-compulsive disorder (OCD) may repeatedly (i.e. compulsively) check the front door is locked, for hours per occasion.

It is well known that impulsive and compulsive problems often occur together in the same individual, but very little is known about processes in the brain that may contribute to this. To address this, in this study supported by the NIHR Cambridge BRC researchers studied brain structure and impulsive-compulsive problems in young adults, and the relationship between them.

They found that most of the occurrence of impulsive and compulsive problems could be explained by difficulty regulating urges and habits, known as ‘disinhibition’. Disinhibition was related to changes in the structure of the brain, especially in regions important for top-down control such as the frontal lobe.

The study identified a new brain-based vulnerability marker contributing to impulsive and compulsive problems. Unlike previous research, the findings go beyond traditional psychiatric diagnostic boundaries, by examining a comprehensive range of behaviors, rather than only one disorder studied in isolation.

Publication: Journal of Neurology, Neurosurgery and Psychiatry

Audrey Low, Elijah Mak, Maura Malpetti, Luca Passamonti, Nicolas Nicastro, James D Stefaniak, George Savulich, Leonidas Chouliaras, Li Su, James B Rowe, Hugh S Markus, John T O’Brien

11 September 2020

Associations between cerebral small vessel disease (SVD) and inflammation have been largely examined using peripheral blood markers of inflammation, with few studies measuring inflammation within the brain. In this study researchers investigated the cross-sectional relationship between SVD and in vivo neuroinflammation using [11C]PK11195 positron emission tomography (PET) imaging.

Global [11C]PK11195 binding was associated with SVD markers, particularly in regions typical of hypertensive arteriopathy: deep microbleeds (β=0.63, F(1,35)=35.24, p<0.001), deep WMH (β=0.59, t=4.91, p<0.001). In dominance analysis, hypertensive arteriopathy score outperformed CAA in predicting [11C]PK11195 binding globally and in 28 out of 37 regions of interest, especially the medial temporal lobe (β=0.66–0.76, t=3.90–5.58, FDR-corrected p (pFDR)=<0.001–0.002) and orbitofrontal cortex (β=0.51–0.57, t=3.53–4.30, pFDR=0.001–0.004).

Microglial activation is associated with SVD, particularly with the hypertensive arteriopathy subtype of SVD. Although further research is needed to determine causality, this study suggests that targeting neuroinflammation might represent a novel therapeutic strategy for SVD.

Publication: European Respiratory Journal

Anthony W. Martinelli, Tejas Ingle, Joseph Newman, Iftikhar Nadeem, Karl Jackson, Nicholas D. Lane, James Melhorn, Helen E. Davies, Anthony J. Rostron, Aldrin Adeni, Kevin Conroy, Nicholas Woznitza, Matthew Matson, Simon E. Brill, James Murray, Amar Shah, Revati Naran, Samanjit S. Hare, Oliver Collas, Sarah Bigham, Michael Spiro, Margaret M. Huang, Beenish Iqbal, Sarah Trenfield, Stephane Ledot, Sujal Desai, Lewis Standing, Judith Babar, Razeen Mahroof, Ian Smith, Kai Lee, Nairi Tchrakian, Stephanie Uys, William Ricketts, Anant R.C. Patel, Avinash Aujayeb, Maria Kokosi, Alexander J.K. Wilkinson, Stefan J. Marciniak

10 September 2020

Summary

Pneumothorax and pneumomediastinum have both been noted to complicate cases of COVID-19 requiring hospital admission. The research team reported the largest case series yet described of patients with both these pathologies that includes non-ventilated patients.

Cases were collected retrospectively from UK hospitals with inclusion criteria limited to a diagnosis of COVID-19 and the presence of either pneumothorax or pneumomediastinum. Patients included in the study presented between March and June 2020. Details obtained from the medical record included demographics, radiology, laboratory investigations, clinical management and survival.

Seventy-one patients from 16 centres were included in the study, of whom 60 patients had pneumothoraces (six also with pneumomediastinum), whilst 11 patients had pneumomediastinum alone.

Survival at 28 days was not significantly different following pneumothorax or isolated pneumomediastinum. The incidence of pneumothorax was higher in males. The 28-day survival was not different between the sexes. Patients above the age of 70 had a significantly lower 28-day survival than younger individuals.

These cases suggest that pneumothorax is a complication of COVID-19. Pneumothorax does not seem to be an independent marker of poor prognosis and the researchers encourage active treatment to be continued where clinically possible.

Anthony Martinelli and Margaret Huang are supported by the Wellcome Trust. Stefan Marciniak is supported by the Medical Research Council, NIHR Cambridge BRC, Royal Papworth Hospital and the Alpha1-Foundation.

Click to read: Punctured lung affects almost one in a hundred hospitalised COVID-19 patients

Publication: NeuroImage

Catarina Rua, William T. Clark, Ian D. Driver, Olivier Mougin, Andrew T. Morgan, Stuart Clare, Susan Francis, Keith W. Muir, Richard G. Wise, T. Adrian Carpenter, Guy B. Williams, James B. Rowe, Richard Bowtell, Christopher T.Rodgers

9 September 2020

The researchers present the reliability of ultra-high field T2* MRI at 7T, as part of the UK7T Network’s “Travelling Heads” study. T2*-weighted MRI images can be processed to produce quantitative susceptibility maps (QSM) and R2* maps. These reflect iron and myelin concentrations, which are altered in many pathophysiological processes. The relaxation parameters of human brain tissue are such that R2* mapping and QSM show particularly strong gains in contrast-to-noise ratio at ultra-high field (7T) vs clinical field strengths (1.5–3T). The study team aimed to determine the inter-subject and inter-site reproducibility of QSM and R2* mapping at 7T, in readiness for future multi-site clinical studies.

Mean susceptibility (χ) and R2* values agreed broadly with literature values in all ROIs. The inter-site within-subject standard deviation was 0.001–0.005 ppm (χ) and 0.0005–0.001 ms−1 (R2*). For χ this is 2.1–4.8 fold better than 3T reports, and 1.1–3.4 fold better for R2*. The median ICC from within- and cross-site R2* data was 0.98 and 0.91, respectively. Multi-echo QSM had greater variability vs single-echo QSM especially in areas with large B0 inhomogeneity such as the inferior frontal cortex. Across sites, R2* values were more consistent than QSM in subcortical structures due to differences in B0-shimming. On a between-subject level, theirr measured χ and R2* cross-site variance is comparable to within-site variance in the literature, suggesting that it is reasonable to pool data across sites using our harmonised protocol.

The harmonized UK7T protocol and pipeline delivers on average a 3-fold improvement in the coefficient of reproducibility for QSM and R2* at 7T compared to previous reports of multi-site reproducibility at 3T. These protocols are ready for use in multi-site clinical studies at 7T.

Publication: Nature Medicine

Sarah Killcoyne, Eleanor Gregson, David C. Wedge, Dan J. Woodcock, Matthew D. Eldridge, Rachel de la Rue,  Ahmad Miremadi, Sujath Abbas, Adrienn Blasko, Cassandra Kosmidou, Wladyslaw Januszewicz, Aikaterini Varanou Jenkins, Moritz Gerstung & Rebecca C. Fitzgerald 

07 September 2020

Summary

Barrett’s oesophagus is a risk factor for oesophageal cancer. The oesophagus or known as the gullet or food pipe, connects from your mouth to the stomach. Cells within the oesophagus can change and become abnormal. Biopsies taken via an endoscopy can help detect any abnormal cells.

Oesophageal cancer can be hard to detect, Cambridge researchers investigated whether patients could be identified earlier. Using DNA tissue biopsies from patients diagnosed with Barrett’s oesophagus could show which patients are more likely to develop the disease.

Using whole genome sequencing, researchers analysed samples from 88 patients and compared their DNA against control samples collected during clinical surveillance for Barrett’s oesophagus. Researchers looked at the differences in the DNA between patients who were eventually diagnosed with cancer to those who were not. They found several changes and used this model to predict whether a patient was at a high or low risk of cancer.

They found the model could correctly predict oesophageal cancer eight years before diagnosis for half of all patients who went on to develop the disease. This increased to more than three-quarters of patients one to two years before a diagnosis. Read the full story.