Category: Colon

Lights and shadows in the early-onset colorectal cancer management and research: An integrative perspective – Physician scientist with patient advocates

https://www.sciencedirect.com/science/article/pii/S1521691823000318

Practice points

  • -The global importance that Early-onset colorectal cancer (EOCRC) is acquiring, makes a joint and worldwide effort necessary to unravel the problem.
  • -Although most EOCRC cases seem to be sporadic, there is still an important proportion belonging to families with well-defined colorectal cancer predisposition syndromes.
  • –Excluding hereditary syndromes, general population screening strategies don’t cover most cases in the majority of countries, except in some defined ones with first-degree relatives with colorectal cancer.
  • -At present, the management of EOCRC should be considered a lifelong process: from the early care of symptoms to avoiding delays in diagnosis; through a multidisciplinary treatment in both the present and future; and with considerations for the possible consequences in the short and long term.
  • -The participation of patients in each step of the process, as well as in the awareness of the problem is especially critical in EOCRC.

Hereditary and Familial Colorectal Cancer

While previous books on the topic have primarily focused on the genetic, molecular and pathological basis for these syndromes, there is a lack of information for busy physicians regarding the clinical management of hereditary cancer predisposition syndromes and colorectal cancer occurring in the familial setting.

The editors of this book have been fortunate to have received contributions from a multinational panel of expert clinicians who specialise in the clinical management of such individuals. They are extremely indebted to their generous contributions.

The Authors envisioned this book to be a leading manuscript and reference tool for those caring for patients and families of those with hereditary and familial colorectal cancer.

They hope to have achieved their aim to consolidate the current best practice and present it in a concise manner and see it as a crucial addition to current literature available.

While principally aimed at medical professionals, they trust that it will be of interest to genetic counsellor and nursing colleagues, as well as all those affected by the conditions described herein.

Real-world evidence research in metastatic colorectal cancer: raising awareness of the need for patient contributions

https://www.futuremedicine.com/doi/10.2217/fon-2022-1253

Conclusion

By providing evidence and insights into patient experiences without bias, RWE research is a valuable resource that complements RCT(randomised control trial) data.

The success of RWE research depends upon the active engagement of patients and their carers. Alongside education regarding the disease and its treatment, participation in RWE research may help empower patients with mCRC and other cancers to influence decisions concerning their own treatment. There is potential for increased patient engagement to help improve overall management of the disease. To increase the numbers of patients and carers participating in RWE studies, improved understanding and awareness of RWE research is needed, and clinicians are well placed to encourage this process. Engaging patients and carers throughout disease management is key to unlocking the potential for RWE to improve outcomes in mCRC.

It is now imperative that policy makers consider the value of this in their assessment and inclusion of treatments.

https://www.futuremedicine.com/doi/10.2217/fon-2022-1253

The English National Lynch Syndrome Transformation Project

There is consistent evidence of the cost-effectiveness and clinical benefit of a structured diagnostic pathway in patients with LS following a diagnosis of cancer linked to cascade testing in families. 

Existing guidelines recommend universal testing of newly diagnosed colorectal and endometrial cancer for Lynch syndrome.

….Another approach to deliver effective diagnosis is to develop ‘mainstreaming’ models whereby patients are offered constitutional genetic testing by their cancer treating teams locally, rather than relying on referral of eligible patients to tertiary services such as clinical genetics.

Conclusions

Whilst there is increased awareness of the cancer risks associated with LS, and other aspects of the condition, by clinicians, there remain significant gains which can be made in diagnosis and subsequent lifelong management of people with LS.

Effective diagnosis needs to deliver people with this condition to effective clinical risk mitigation through a range of mechanisms including nationally coordinated and quality-assured colonoscopic surveillance.

In this project, we have aimed to develop expertise within cancer teams across England, with clear responsibilities, leadership from within which will ensure that the patients they are managing with cancer will receive appropriate testing and delivery diagnosis.

The responsibility for managing cascade testing remains with specialist genomics services.

However lifelong care of people diagnosed with this condition depends on awareness of who this population is, as defined through a national registry, and access to regional multidisciplinary expertise.

https://www.bsg.org.uk/service-success-stories/the-english-national-lynch-syndrome-transformation-project/

Be aware of gene changes and cancer in your family and take part in screening to reduce your risk of cancer.

https://www.cancer.ie/cancer-information-and-support/cancer-types/bowel-colorectal-cancer/lynch-syndrome

Constitutional MLH1 Methylation Is a Major Contributor to Mismatch Repair–Deficient, MLH1-Methylated Colorectal Cancer in Patients Aged 55 Years and Younger

“When patients with Lynch syndrome—whose first cancers generally appear at an early age—aren’t diagnosed promptly, they don’t get appropriate follow-up or surveillance. They can go on to have multiple different cancers before they are finally diagnosed. If we could identify them when they have their first cancer, we could prevent additional cancers—or at least detect them earlier,” said Megan Hitchins, PhD, director of Translational Genomics in the Department of Biomedical Sciences at Cedars-Sinai and lead author of the study.

Study Finds Younger Patients with Lynch Syndrome Often Undetected by Current Guidelines

https://jnccn.org/view/journals/jnccn/21/7/article-p743.xml

Referral challenges for early-onset colorectal cancer: a qualitative study in UK primary care

Aim: To explore awareness of the increasing incidence of EOCRC, and to understand the potential barriers or facilitators faced by general practitioners (GPs) when referring younger adults to secondary care with features suspicious for EOCRC.

Results: Three main themes were identified regarding awareness, diagnostic and referral challenges amongst participating GPs. Awareness challenges focused on perceptions of EOCRC being solely associated with hereditary cancer syndromes and colorectal cancer being a condition of older adults. Key diagnostic challenges centred around the commonality of lower gastrointestinal complaints and overlap in EOCRC symptoms with benign conditions. Restrictions in age-based referral guidance and a GP ‘guilt complex’ surrounding over-referral to secondary care summarised the referral challenges. Young women were perceived as being particularly disadvantaged with regards to delays in diagnosis.

Conclusion: This novel research outlines potential reasons, from a GP perspective, for the diagnostic delays seen in patients with EOCRC and highlights many of the complicating factors that contribute to the diagnostic process.

https://pubmed.ncbi.nlm.nih.gov/37433643/ (Note 17 GPS involved)

A Safety and Efficacy Comparison of a New Sulfate-Based Tablet Bowel Preparation Versus a PEG and Ascorbate Comparator in Adult Subjects Undergoing Colonoscopy (2020)

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7864663/

(515 participants)

RESULTS:

A high rate of cleansing success was seen with OST(Oral sulfate tablets) (92%), which was noninferior to PEG-EA(Polyethylene glycol-electrolyte solution) (89%). Only a small proportion of subjects rated their expected gastrointestinal symptoms as severe (<5% for both preps). No clinically significant differences were seen between preps for chemistry and hematology parameters. No serious adverse experiences were reported with OST.

DISCUSSION:

Sulfate tablets achieved a high level of cleansing in the study, comparable with US FDA–approved preps. OST was noninferior to PEG-EA in this study and achieved significantly more Excellent preps overall and in the proximal colon. The OST prep was well-tolerated, with a similar rate of spontaneously reported adverse experiences to PEG-EA and a low rate of severe expected gastrointestinal symptoms.

Lynch Syndrome and me: Leanne’s story

“There are two things I want people to know. Firstly, the understanding about LS at all the different touch points in the NHS is amazing. Secondly, having LS isn’t necessarily a bad thing. I have the MSH2 variant. It’s not great to know all the associated risks, but it gives me the opportunity to better both my and my family’s future chances. It’s a blessing in disguise to discover this.”

“When we found out, we spoke with other family members as I felt that I needed to let them know. Some of my relatives came forward and got themselves tested to see if they could make the same informed decisions; others didn’t.”

Having this knowledge has enabled me to make decisions about my life.

Bowel cancer: What role do our genes play?

A person’s risk of developing colorectal cancer is influenced by lifestyle factors, such as a low-fibre diet and lack of regular physical activity; however, as is the case with breast cancer, some inherited genetic variants increase the likelihood of a person developing colorectal cancer.

Lynch syndrome

A person who inherits Lynch syndrome will have a high lifetime risk of colorectal cancer, as well as increased risk of some other types of cancer. It can be caused by variants in one of four different genes (MLH1, MSH2, MSH6and PMS2) that code for essential DNA repair proteins.

In all four genes, only one affected copy is needed to cause the increased cancer risk. This means that Lynch syndrome is inherited in a dominant pattern in families.

People who have Lynch syndrome are generally advised to have a colonoscopy every two years so that cancers can be identified and removed at an early stage. For affected women, a hysterectomy and removal of the ovaried and fallopian tubes are often considered too, because there is a significant risk of endometrial and ovarian cancer.

Bowel cancer: What role do our genes play?