Blog

Occurrence of dMMR/MSI-H tumor during follow-up in Lynch syndrome patients treated with immune checkpoint inhibitors for metastatic digestive cancer

2015 and 2024: a retrospective analysis of a monocentric prospective cohort study

Highlights

Patients with LS treated with ICIs are at risk of metachronous dMMR/MSI-H cancers (8% of cohort).

The most frequent metachronous(occurring at different times) cancers observed were urothelial cancer and CRC.

Preneoplastic(state or lesion that occurs before the formation of a benign or malignant tumour) colorectal polyps developed in 39% of patients undergoing colonoscopies during follow-up.

Long-term surveillance is critical for LS patients post-ICI treatment.

https://www.esmoopen.com/article/S2059-7029(25)01428-0/fulltext

The Prospective Lynch Syndrome Database (PLSD)

Objective: Compiling existing information on carriers with pathogenic mismatch repair gene variants (path_MMR variants) associated with dominantly inherited cancer.

Aim: Describing associations between the path_MMR variants and cancer in any organ by age, gene and gender, and effects of interventions.

https://www.ehtg.org/plsd.php

Standing Up to Cancer with Lynch Syndrome

Key Takeaways
  • Lynch syndrome significantly increases cancer risk, necessitating vigilant health management through regular screenings and lifestyle choices.
  • Aspirin therapy may reduce colorectal cancer risk in Lynch syndrome patients, though no intervention guarantees complete protection.
  • Sharing experiences and translating medical research into actionable steps empowers others facing hereditary cancer risks.
  • Understanding cancer as a biological reality, not a personal failure, provides perspective and fosters acceptance and resolve.

https://www.curetoday.com/view/standing-up-to-cancer-with-lynch-syndrome

New UKCGG gene specific guidance

New UK Cancer Genetics Group(UKCGG) gene specific guidance to incorporate updated advice about risk-reducing aspirin.
For families with Lynch syndrome.

https://www.ukcgg.org/information-education/ukcgg-leaflets-and-guidelines/

Disease is what the body has, while illness is what the person lives with

Treating disease without attending to illness may succeed clinically but fail humanly. To practise medicine is not only to chart what the body endures, but to bear witness to what the person carries—and to recognise that both records belong in the same story.

https://open.substack.com/pub/patientvoicecollective/p/when-the-plan-succeeds-but-the-patient?utm_campaign=post&utm_medium=email

Closing the communication gap: The new priority in public health

The chasm of credibility between health scientists and the public has led to ongoing questioning of public health agencies and medical doctors. Some even wonder whether it is too late to close the gap.

Kristen Panthagani:  ‘Hey, we need to fix this.’

We need more clinicians and scientists communicating with the public, and to get there, we need to teach them how to do it.

Effective communication should emphasize empathy and clarity over jargon and dismissal

If you are a clinician or scientist interested in communicating with the public— is to just start, even if you’re still a student! 

https://ysph.yale.edu/news-article/closing-the-communication-gap-the-new-priority-in-public-health/

Reliable and effective healthcare messaging in a changing world

https://imj.ie/reliable-and-effective-healthcare-messaging-in-a-changing-world/

Global epidemic of Young Onset Colorectal Cancer has arrived…

Epidemiology is the study of how often diseases occur in different groups of people and why.

https://imj.ie/the-global-epidemic-of-young-onset-colorectal-cancer-has-arrived-implications-for-irish-healthcare/

Restrictive diets are unnecessary for colonoscopy: Non-inferiority randomized trial

In colonoscopy, preparation is often regarded as the most burdensome part of the intervention. Traditionally, specific diets have been recommended, but the evidence to support this policy is insufficient. The aim of this study was to evaluate the impact of the decision not to follow a restrictive diet on bowel preparation and colonoscopy outcomes.

Conclusions The liberal diet was non-inferior to the 1-day LRD, and increased tolerability. Colonoscopy performance and quality were not affected. 

A non-inferiority randomised trial is a study designed to prove that a new treatment is not worse than an existing treatment by more than a pre-defined, acceptable margin.

A liberal diet isn’t about eating anything you want, but rather following a low-fiber diet for a few days beforehand, gradually transitioning to clear liquids the day before the procedure.

https://pmc.ncbi.nlm.nih.gov/articles/PMC10919995/

Advocating for a National Registry for Patients with cancer-predisposing genetic alterations

Pilot registry in St. James’s Hospital for patients with a cancer-predisposing genetic alteration called the CAmPaiGn Study and are delighted to be actively recruiting patients.

While this is an important first step, we do not believe it is enough. We are strongly advocating for a national registry, as we feel this is both deserved and urgently needed.

If you have one of these alterations, please complete our PPI survey: https://surveymonkey.com/r/PKMSGD3

Every response will help strengthen the argument that a national registry is needed, wanted, and justified .