Targeted immunotherapy helps Florida woman beat Lynch syndrome-driven colon cancer

“Fortunately, there’s been a lot of work for patients with Lynch syndrome,” says Dr. Jones. “It used to be that they had really aggressive cancers, and we just didn’t have a great way of treating them. But over the last five to seven years, we’ve had an explosion of drugs called immunotherapies. We’ve seen dramatic responses and unlikely cures in patients.”

https://cancerblog.mayoclinic.org/2022/07/13/targeted-immunotherapy-helps-florida-woman-beat-lynch-syndrome-driven-colon-cancer/

The stigma around poo really bums us out – help us put an end to it. #Auguts #HaveYouGotTheGuts

“I lost my shame very quickly when my new consultant said “do you mind if I put my finger up your bottom?” and did so in front of several junior doctors. But what good has shame ever done me anyway?

https://fb.watch/eNROxMGMkF/

Faecal immunochemical testing (FIT) in patients with signs or symptoms of suspected colorectal cancer (CRC): a joint guideline from the Association of Coloproctology of Great Britain and Ireland (ACPGBI) and the British Society of Gastroenterology (BSG)

Executive Summary of Recommendations

FIT in Primary Care

1. We recommend that FIT should be used by primary care clinicians to prioritise patients with clinical features of colorectal cancer for referral for urgent investigation
2. We recommend that a FIT threshold of fHb ≥10μg Hb/g should be used in primary care to select patients with lower gastrointestinal symptoms for an urgent referral pathway for colorectal cancer investigation
3. We recommend that patients should not be excluded from referral from primary care for symptoms on the basis of FIT testing alone

Advice for clinicians where patients have not returned a FIT test

4. We suggest that clinicians should follow up patients with no FIT result to encourage them to return a sample or, where the kit has been lost or inadequately submitted, offer a further test
5. We suggest that patients who decline to return a FIT test should be counselled that evaluation of their symptoms is incomplete, and be encouraged to complete their test
6. We suggest that where no FIT result can be obtained, clinicians should use existing national and local guidelines to assess risk of colorectal cancer

Safety Netting

7. We recommend that some patients with symptoms of suspected colorectal cancer may be managed in primary care if fHb <10μg Hb/g, and provided appropriate safety netting is in place
8. We suggest that patients with a fHb <10μg Hb/g but with persistent and unexplained symptoms for whom the GP has ongoing clinical concern should be referred to secondary care for evaluation
9. We recommend that safety netting protocols should incorporate advice and strategies for the diagnosis of colorectal and extra-colonic cancer, as well as other serious gastro-intestinal conditions

Diagnostic accuracy of FIT for CRC with suspected cancer signs or symptoms

10. FIT is a triage tool to identify those patients with symptoms of suspected colorectal cancer who should undergo further colorectal investigation
11. We suggest that FIT be utilised for people with iron deficiency anaemia within primary care to inform urgency of referral
12. We suggest referral of patients with persistent / recurrent anorectal bleeding for flexible sigmoidoscopy if fHb <10μg Hb/g
13. There is currently insufficient evidence to recommend variations in the fHb threshold for referral from primary care according to patient related-factors
14. There is currently insufficient evidence to confirm whether diagnostic accuracy is impacted by the type of FIT analyser used
15. There is currently insufficient evidence to recommend including FIT in a risk score with other clinical features to identify patients with symptoms of suspected colorectal cancer
16. We suggest that FIT may be used to stratify adult patients aged younger than 50 years with bowel symptoms suspicious of a diagnosis of colorectal cancer

Investigation in secondary care

17. Colonoscopy is considered the standard method of investigation, however other methods of colorectal imaging may be appropriate in some patients
18. We recommend that for patients with symptoms of a suspected diagnosis of colorectal cancer, CT Colonography is equivalent to colonoscopy for detection of colorectal cancer (the choice of modality should be determined by the local expertise and availability)
19. There is currently insufficient evidence to support use of a specific quantitative FIT threshold to recommend the selection of CT Colonography versus colonoscopy

Acceptability

20. On the basis of limited evidence, clinicians and patients consider FIT as an acceptable test for symptomatic colorectal cancer in most circumstances
21. We recommend that services should consider ways of promoting a high proportion of patients to return FIT kits

Discrimination

22. We recommend that clinicians actively prevent discrimination at any stage of the diagnostic pathway as symptomatic FIT testing is rolled out, with a focus on equity of access and application to all patients with lower GI symptoms

Implementation

23. We recommend that FIT, as a diagnostic triage tool, can be implemented safely at primary care level, and that a programme of education be developed to facilitate implementation of FIT in primary care

Quite simply, people need to take bowel cancer seriously. Give a $#*! about your bowel, it could save your life…

https://fb.watch/ekMGYHtR0Q/

Bowel cancer deaths can be prevented through the early detection and removal of polyps.

“We want to prevent polyps turning into early-stage cancers,” Bowel Cancer Australia Medical Director, Graham Newstead AM said.

European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender(2021)

The recommendations from the EHTG and ESCP for identification of patients with Lynch syndrome, colorectal surveillance, surgical management of colorectal cancer, lifestyle and chemoprevention in Lynch syndrome that reached a consensus (at least 80 per cent) are presented.

https://academic.oup.com/bjs/article/108/5/484/6287132?login=false

The most common hereditary form of hereditary colorectal cancer

 Identifying patients with Lynch syndrome is clinically important because these patients have up to 80 percent lifetime risk of colorectal cancer and up to 60 percent lifetime risk of endometrial cancer.

These patients also have an increased risk for other primary cancers including gastric, ovarian, small bowel, urothelial (ureter, renal pelvis), biliary tract, pancreatic, brain (glioblastoma), sebaceous gland adenomas, and keratoacanthomas.

Individuals found to have a deleterious Lynch syndrome mutation are at increased cancer risk with the greatest risk of colorectal and endometrial cancers, followed by gastric and ovarian cancers. Fortunately, there are risk management guidelines for carriers of Lynch syndrome which are associated with a decrease in cancer-related deaths. 

https://www.ncbi.nlm.nih.gov/books/NBK431096/#:~:text=Identifying%20patients%20with%20Lynch%20syndrome,lifetime%20risk%20of%20endometrial%20cancer

FIT for Lynch Study – New diagnostic techniques for bowel cancer detection and prevention

The St Mark’s Lynch Syndrome Clinic is undertaking a range of projects which are being supported by 40tude Curing Colon Cancer. One of the projects aims to develop more tests which facilitate the prevention and early diagnosis of cancer in people with Lynch Syndrome (LS).

Dr Kevin Monahan, a consultant gastroenterologist at St Mark’s, says, ‘‘We’re working closely with people with LS to design national health services – our work can’t be achieved without them. The FIT for Lynch Study is the first longitudinal study of its kind which will assess the potential role of faecal immunochemical testing (FIT) as a means of bowel cancer surveillance in people with LS. 

Is colon cancer hereditary?

All cancers are genetic because changes in genes cause cells to grow out of control, leading to the disease. However, genetic does not mean hereditary

Hereditary cancers are cancers that pass from generation to generation via genes. These cancers comprise only a small portion of colon cancers.

Lynch syndrome causes about 5% of all colorectal cancers.

Biomarkers in Colon Cancer: What Does High Microsatellite Instability Mean?

Tumours that are MSI high have a lot of mutations on their surface. A lot of mutations are needed for the immune system to recognise the cancer.
For the majority of solid tumours, the immune system doesn’t really care that you have cancer.
But in tumours that are MSI-High, they have a lot of proteins on their surface that are kind of like signs for the immune system to say ‘Hey, I’m here! Come fight me!’ And then the immune system sees those mutations, kicks in, and sends T cells.

If the tumour is dMMR/MSI-H, additional tests are required to determine if the MSI-H is caused by Lynch syndrome….”

The Diagnosis and Management of Lynch Syndrome Guideline Patient Companion (AGA)