Category: Research

Lynch syndrome: from detection to treatment

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(http://plsd.eu) 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(next generation sequencing) into clinical practice will undoubtably improve detection rates and allow for more effective, precise, and personalised management programmes for patients with LS.

Finally, 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

Patients’ satisfaction w/Lynch syndrome providers

This episode is the first in a series featuring former CGA-IGC research grant recipients.Features Dr. Allison Burton-Chase, MD from the Albany College of Pharmacy and Health Sciences. Dr. Burton-Chase was the first recipient of the CGA-IGC research grant in 2014 for her work entitled “Factors Impacting the Decision of an Individual with Lynch Syndrome to Terminate a Health Care Provider Relationship”.

The majority of patients who terminated their patient-provider relationships did so due to negative interactions, such as the provider having a lack of Lynch syndrome-specific knowledge or not being open to improving their knowledge on Lynch syndrome.

https://www.cgaigc.com/post/patients-satisfaction-w-lynch-syndrome-providers-interview-w-2014-cga-igc-research-grant-recipient

Performance of the Fecal Immunochemical Test(FIT) in Detecting Advanced Colorectal Neoplasms and Colorectal Cancers in People Aged 40–49 Years: 

Recently, the cases of colorectal cancers has been rising in younger age (<50) individuals. Although current guidelines recommend colorectal cancer screening should be initiated at age 45 instead of 50, the optimal approach of colorectal cancer screening is not clear.

This article investigates the efficacy of fecal immunochemical test (FIT), which detects occult blood in stool, in predicting advanced colorectal polyps and tumors among people aged 40–49.

The findings suggest FIT is useful to identify such people with high risk to have advanced colorectal lesions. Hence, FIT may be considered as the first-line screening tool for these people, and further comparative study between FIT and colonoscopy will be of great value.

The detection rate of ACRN(advanced) and CRC based on FITs in individuals aged 40–49 years is acceptable, and the yield of ACRN might be similar between individuals aged 45–49 and 50–59 years. Further comparative and cost-effective analysis of colonoscopies is mandatory to guide its use in EOCRC screening.

https://www.mdpi.com/2321922

What is the future of immunotherapy?

Immunotherapy represents a new paradigm in cancer care. It’s really an entirely new mechanism for treating cancer. We’re not targeting the tumor cells; instead, we’re targeting the immune system.

I encourage patients to talk with their physicians about innovative treatment options and consider participating in clinical trials so we can move the field forward. Together, we can unlock the promise of immunotherapy.

https://www.mdanderson.org/cancerwise/what-is-the-future-of-immunotherapy.h00-159538167.html

Social media platforms

Social media are not neutral: their governance and structure impact how and what content is shared on them.

Research has shown that a range of ‘platform mechanisms’ increasingly influences the way stories are told, information circulated and connections made online. 

Yet, little is known about how platforms’ privacy settings and users’ awareness of them influence which personal narratives (e.g., harrowing, heartening) are more likely to be posted online in relation to genetic conditions.

https://sites.google.com/sheffield.ac.uk/previvorship/resources/social-media-platforms

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.

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/

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.