Category: Prevention

Guidance on faecal immunochemical testing (FIT) to help diagnose colorectal cancer among symptomatic patients in primary care

A new guideline around faecal immunochemical testing (FIT) in patients with signs or symptoms of suspected colorectal cancer (CRC). NHS England has subsequently written to all GP practices in England recommending they implement this guideline ‘in full’.

Symptoms alone have a poor sensitivity for CRC, meaning a high volume of secondary care investigations are required to detect cases if symptom-based criteria alone guide referrals. Endoscopy services in the UK have been struggling to keep up with referral demands, and waiting times for a colonoscopy lengthened during the COVID-19 pandemic. It is in this context that the role of FIT has been recently evaluated, to determine whether it can safely triage referrals and better identify high-risk patients than symptoms and non-specific blood tests alone.

CONCLUSION

FIT offers a non-invasive, community-based opportunity to help improve triage of the large number of patients seen in primary care with lower GI symptoms. Patients with a negative FIT, particularly in the context of a normal examination and other investigations, are low risk and may be managed in primary care if symptoms resolve. However, CRC pathways must permit the referral of people with a negative FIT and persistent and concerning symptoms or rectal bleeding for urgent assessment.

https://bjgp.org/content/73/731/283

A Focused Clinical Review of Lynch Syndrome

The results of germline testing for LS can be complicated and the diagnostic pathway is not always clear. Furthermore, by testing only those with cancer for LS we fail to identify these individuals before they develop potentially fatal pathology.

Given the benefits to discovering that someone has LS, not just for the patient but for their immediate family members, it is expected that most people would welcome genetic testing for LS. In fact, there is good number of studies that suggest that hypothetically there is a high interest in finding out this information.By contrast, there are good reports that show that there is a high number of people that decline testing.

In summary, LS care has come a long way over the last twenty years. We now understand the individual cancer risk to inform consent, tests to accurately diagnoses LS and ways by which we can reduce cancer risk. However, more needs to be done to find those who are undiagnosed, develop less invasive cancer surveillance methods and develop new vaccinations and treatments.

https://www.dovepress.com/a-focused-clinical-review-of-lynch-syndrome-peer-reviewed-fulltext-article-CMAR

Diagnosis and management of Lynch syndrome

https://fg.bmj.com/content/13/e1/e80

A personalised approach to lifelong gene-specific management for people with LS provides many opportunities for cancer prevention and treatment.

What surveillance should these patients undergo?

  • Colonoscopic surveillance should be performed every 2 years starting at age 25 years for MLH1, or MSH2 pathogenic variant carriers, or age 35 years for MSH6, or PMS2 pathogenic variant carriers.
  • Endoscopic lesions can be difficult to recognise due to a high frequency of flat non-polypoid morphology, and high-quality colonoscopy is essential.
  • Gynaecological surveillance has no proven benefit.
  • Aspirin reduces long-term colorectal cancer (CRC) risk by approximately 50%. Recommended doses include 150 mg ODonce daily or 300 mg ODonce daily for patients with BMIbody mass index >30.

What surgical treatments are recommended?

  • Women should be counselled on prophylactic hysterectomy and bilateral salpingo-oopherectomy from age 40 years (MLH1, MSH2 and MSH6 variant carriers).
  • There is a gene-specific approach to surgical management of CRC which takes in to account other patient factors.

What systemic oncological treatments are recommended?

  • Chemoprophylaxis with daily aspirin for at least 2 years is recommended in patients <70 years old diagnosed with LS to reduce long-term CRC risk.
  • Personalised systemic anticancer therapy is feasible for locally advanced or metastatic disease associated with LS, and may respond very well to relatively novel checkpoint inhibition immunotherapy.

Understanding Lynch Syndrome and Associated Cancer Risk: Epidemiology

https://www.onclive.com/view/understanding-lynch-syndrome-and-associated-cancer-risk-epidemiology?utm_source=twitter&utm_medium=onclive&utm_term=&utm_content=&utm_campaign=

Lynch syndrome is the most commonly inherited colon cancer syndrome, and it accounts for approximately 3% of all newly diagnosed cases of colorectal cancer.

The genetics of both the tumor and the germline have an important role in the development and diagnosis of Lynch syndrome. 

Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment:

A report from the prospective Lynch syndrome database: The PLSD(www.PLSD.eu) is a prospective observational study without a control group that was designed in 2012 and updated up to October 2022. Data for 8500 carriers of path_MMR variants from 25 countries were included, providing 71,713 years of follow up.

Interpretation

The current study found low CRC mortality in path_MMR carriers who receive colonoscopy surveillance while some extracolonic cancers were associated with high mortality. Further improvement of survival in LS may require a focus on the prevention and treatment of non-colorectal cancers, likely including approaches based upon the immune response to MSI pre-cancerous lesions and cancers.

https://www.thelancet.com/journals/eclinm/article/PIIS2589-5370(23)00086-X/fulltext#secsectitle0095

Do people with hereditary cancer syndromes inform their at-risk relatives?

Conclusion: Nearly one-third of at-risk relatives remain uninformed of their risk of carrying a cancer-associated pathogenic variant. Even among those informed, fewer than half subsequently complete genetic testing, representing a critical missed opportunity for precision cancer prevention.

Innovation: Five studies evaluating interventions to improve disclosure rates were generally ineffective. Urgent work is needed to elucidate barriers to relative disclosure by probands (a person serving as the starting point for the genetic study of a family) to develop targeted interventions that can optimize proband-mediated cascade genetic testing rates.

https://pubmed.ncbi.nlm.nih.gov/37214514/

Charity welcomes “game-changing” womb cancer treatment

Peaches Trust Press Release

Everyone diagnosed with advanced or recurrent endometrial cancer in England can access a new treatment that has been approved by The National Institute for Health and Care Excellence (NICE).

Approval of pembrolizumab (Keytruda), a type of cancer treatment called immunotherapy, and lenvatinib (Lenvima), a cancer growth blocker, will offer the potential for people with womb cancer to live longer, to feel well, and to live more independently, and with improved quality of life.

https://peachestrust.org/charity-welcomes-game-changing-womb-cancer-treatment/?fbclid=IwAR1eZwUnQefYsoznYeDo1To0APZk5OIwhvSOKBh-x7PXUHlU0DLByMeOtzw

What Are the Early Signs of Colorectal Cancer in Young Adults?

The study, which was published in the Journal of the National Cancer Institute, found that there are four symptoms that can be early warning signs for colorectal cancer:

  • Abdominal pain
  • Rectal bleeding
  • Ongoing diarrhea
  • Iron deficiency anemia

According to the study, these symptoms appeared at least two years before a colorectal cancer diagnosis.

https://www.verywellhealth.com/4-early-symptoms-of-colon-cancer-7496596?utm_source=twitter&utm_medium=social&utm_campaign=shareurlbuttons via @verywell

Lynch syndrome: from detection to treatment

Conclusion

Lynch syndrome is encountered by many clinicians at some stage in their practice and yet remains under-diagnosed with historically limited success in risk stratification and management.

The PLSD international database continues to expand our knowledge of LS-associated cancer risk. However, we have yet to obtain international consensus on the optimal surveillance strategies, which will be essential among a population of patients who are living beyond their index cancer. The advent of NGS into clinical practice will undoubtably improve detection rates and allow for more effective, precise, and personalised management programmes for patients with LS.

Over the next decade it will be exciting to see improvements in the preventative strategies that can be offered to patients in the form of aspirin, or even anti-cancer vaccines, as we continue to attempt to disrupt the natural history of this prevalent cancer predisposition syndrome.

https://www.frontiersin.org/articles/10.3389/fonc.2023.1166238/full?utm_source=S-TWT&utm_medium=SNET&utm_campaign=ECO_FONC_XXXXXXXX_auto-dlvrit#h6

What is MY Cancer Risk? Lynch Syndrome Explained: And How to Get Tested

To better understand Lynch syndrome and how to test for it early, we sat down with Dr. Michael Hall, a medical oncologist at Fox Chase Cancer Center. In this conversation, he discusses Lynch syndrome, what cancers patients would be more at risk for, and who should get tested.