Category: Screening

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

Know Your Biomarker

The Know Your Biomarker Advocacy Toolkit was created to help you join the global effort to ensure all colorectal cancer patients have access to biomarker testing.

Biomarkers and biomarker testing are a fundamental part of precision medicine for colorectal cancer. Biomarkers provide vital information used to determine prognosis and risk of recurrence, guide treatment decisions, evaluate treatment response, and monitor for recurrence after treatment. Biomarker testing can help assess the need for adjuvant chemotherapy after surgery.

We have information about

• what a biomarker is
• how biomarkers are used in colorectal cancer care
• who should have biomarker testing

• specific colorectal cancer biomarkers  • the impact each biomarker can have on treatment

Click to access 642b703e9c2fbf4fa796923a_KYB_AdvocacyToolkit_040323.pdf

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

Care after premenopausal risk-reducing salpingo-oophorectomy in high-risk women: Scoping review and international consensus recommendations

CONCLUSIONS

Despite the efficacy of premenopausal RRSO for reducing ovarian cancer risk and improving mortality in high-risk women, many women experience troublesome menopausal symptoms and oophorectomy may have adverse implications for long-term health.

Our panel of international experts has developed evidence-based recommendations for managing vasomotor, sleep, mood, sexual, and genitourinary symptoms and optimising bone and cardiovascular long-term health. Emerging evidence suggests that HRT reduces but does not eliminate the adverse effects of premenopausal oophorectomy. Women and clinicians considering RRSO should be aware of these risks and clinical care should focus on available safe options for symptom management and optimisation of long-term health.

https://obgyn.onlinelibrary.wiley.com/doi/full/10.1111/1471-0528.17511

Is There a Lynch Syndrome Vaccine on the Way?

Lynch Syndrome, a genetic condition affecting around 1 million Americans annually, increases a person’s risk of developing colorectal cancer (CRC) to 20% – 80%.

As a result, Lynch Syndrome patients must complete yearly preventive screenings. However, developing a Lynch Syndrome vaccine could change the narrative for patients, reducing screenings and – more importantly – lowering risks for Lynch Syndrome-related cancers. 

“The advances in vaccine technologies, such as Lynch Syndrome, is a promising field of research that has the potential to reduce the risk of developing cancer, thereby preventing disease and modifying surveillance regimens for high-risk patients,” said David Fenstermacher, Senior Director of Research & Medical Affairs at the Colorectal Cancer Alliance.

https://www.ccalliance.org/blog/research/is-there-lynch-syndrome-vaccine

Carpe Diem A Little Harder After a Skin Cancer Scare

“…this lesion was positive for “the ugly duckling” sign as it was significantly darker than my other moles”

https://www2.curetoday.com/view/carpe-diem-a-little-harder-after-a-skin-cancer-scare

Lynch Syndrome

Key Points

  •  Lynch syndrome is a rare, inherited condition that increases your risk of developing bowel cancer and sometimes other cancers. 
  • Lynch Syndrome accounts for about 3% of all bowel cancer.  
  • Regular bowel screening by colonoscopy can prevent bowel cancers developing.  
  • Bowel Screening usually starts from the age of 25 years and is performed on a yearly basis.  
  • People with Lynch Syndrome are also at increased risk of developing certain other cancers such as uterine (womb), urinary tract, ovary and small bowel.  
  • Women should consider screening of the uterus and ovaries from the age of 30-35 years.  
  • Genetic testing is available for families with this syndrome.  
  • When you have Lynch Syndrome, each of your children have a 1 in 2 (50%) chance of inheriting it.  

https://www.nzfgcs.co.nz/Syndromes/Lynch-Syndrome