Abstract Background Engagement with research has been shown to be associated with improved patient experience and outcomes at an institutional level in several disease areas1-3. However, this relationship has so far not been explored in inflammatory bowel disease (IBD). The aim of the present study was to assess the relationship between research activity of IBD services across the United Kingdom (UK) and patient-reported quality of care provided by that service. Methods Patient-reported care quality data was collected across the UK through the 2023 IBD UK Patient Survey. Patients rated the overall quality of their care in the preceding 12 months as “poor”, “fair”, “good”, “very good” or “excellent”. High-quality care was defined as responses of “excellent,” “very good,” or “good”. Data related to paediatric services and adult services with fewer than 5 patient responses were excluded. The proportion of patients reporting high quality care at each service was compared with the number of patients recruited to research studies registered with the national central portfolio management system (CPMS) within the previous three years (2020-2022). The CPMS is a cloud-based system that holds the National Institute for Health and Care Research (NIHR) clinical research network portfolio of studies in England, in addition to the network of portfolios in Northern Ireland, Scotland and Wales. Analyses were performed where recruitment identified IBD as the primary subspecialty and gastroenterology was the managing specialty. Results Research recruitment data from 32,432 recruited research participants across 192 IBD services were aligned with 11,738 care quality responses and included in the analysis. Overall, there was a positive correlation between the number of patients recruited to research studies in an IBD service and the proportion of patients reporting high quality care (Spearman r (95% CI) 0.2044 (0.06047-0.3400) p=0.0045). An iterative Grubbs’ Test identified 6 IBD services as outliers. After excluding these services, the positive correlation was maintained (Spearman r (95% CI) 0.1946 (0.04788-0.3331) p=0.0078; Figure 1). Conclusion This study identifies a positive association between the research activity of IBD services and patient-perceived quality of care, highlighting the benefits of active research engagement in IBD care. Acknowledgements We are grateful to the patients who submitted survey responses and to the IBD UK Board members. References 1.Downing A, Morris EJ, Corrigan N, et al. High hospital research participation and improved colorectal cancer survival outcomes: a population-based study. Gut. 2017;66(1):89-96. doi:10.1136/gutjnl-2015-311308 2.Ozdemir BA, Karthikesalingam A, Sinha S, et al. Research activity and the association with mortality. PLoS One. 2015;10(2):e0118253. Published 2015 Feb 26. doi:10.1371/journal.pone.0118253 3.Jonker L, Fisher SJ, Dagnan D. Patients admitted to more research-active hospitals have more confidence in staff and are better informed about their condition and medication: Results from a retrospective cross-sectional study. J Eval Clin Pract. 2020;26(1):203-208. doi:10.1111/jep.13118
Lynch syndrome (LS) is a hereditary cancer syndrome caused by pathogenic germline variants in genes that encode mismatch repair (MMR) proteins. LS is characterized by an increased risk of multiple cancers, including colorectal and endometrial cancer. Muir–Torre syndrome (MTS) is an allelic, phenotypic variant of LS characterized by the presence of skin tumours, including keratoacanthomas and sebaceous tumours. Recently, an association has been proposed between MTS/LS and cutaneous squamous cell carcinoma (cSCC). MTS/LS tumours demonstrate a mutation signature termed microsatellite instability (MSI) that can be used to screen sporadic tumours for underlying MTS/LS. We have previously shown that amplicon-sequencing of microsatellites can detect increased MSI in cSCC in patients with LS. In this study, we assayed a pilot cohort sporadic cSCC in the general population to further explore this potential association. DNA was extracted from cSCC samples. We used an established molecular inversion probe-based protocol to amplify informative microsatellites and sequenced these using the Illumina MiSeq platform. An MSI score was calculated for each tumour sample using a naïve Bayesian approach based on microsatellite deletion frequencies. We found that 5% (n = 1/19) of cSCCs were MSI-high (95% confidence interval 0.1–26.0), which is equivalent to estimated frequencies among unselected sporadic cSCCs in recent literature. We plan to expand our pilot cohort to include a larger series of cSCC and to also carry out somatic sequencing of MSH2, MSH6, MLH1 and PMS2 in tumours to determine if MSI status correlates with MMR gene variant status. Ultimately, this work aims to improve identification of new patients with LS presenting with cSCC and allow them to benefit equitably from preventative cancer surveillance and aspirin chemoprevention.
with only 15 cases reported in the literature. It usually pre-sents with periumbilical keratotic papules or hyperpigmented plaques in middle-aged multiparous high BMI women. This case brings attention to this rare diagnosis and highlights the importance of clinicopathological correlation and a close working relationship with the pathologist. Steatocystoma multiplex (SM) is a rare genetic disorder associated with keratin 17 ( KRT17 ) pathogenic variants and the for-mation of true sebaceous cysts arising from the pilosebaceous unit. Hidradenitis suppurativa (HS) involves immune-mediated folliculocentric inflammation, with abscess and sinus tract for-mation. The coexistence and inheritance of SM and HS suggest a link between these two conditions; however, the KRT17 genotype has not been studied in reported pedigrees. Here we report the clinical course of a genotyped patient with SM and HS who developed mutilating vulval granulomatous inflammation, with a similar presentation in her teenage daughter. A 46-year-old woman presented with a 10-month history of genital inflammation and oedema, with suppurative discharge and pain, severely limiting activities of daily living. Her prior history included acne, biopsy-confirmed steatocystomas at the age of 21 years and recurrent axillary boils in her 30s, with residual nodular axillary scarring. On examination, she had several draining fistulas with lymphoedema and architectural distortion affecting the vulva and inguinal folds, clinically most in keeping with cutaneous Crohn