The Salgi Esophageal Cancer Research Foundation

“A ‘pill on a string’ developed by researchers at the University of Cambridge could help doctors detect esophageal cancer at an early stage, helping them overcome the problem of wide variation between biopsies, suggests research published today in the journal Nature Genetics.

The ‘Cytosponge’ sits within a pill which, when swallowed, dissolves to reveal a sponge that scrapes off cells when withdrawn up the esophagus. It allows doctors to collect cells from all along the esophagus, whereas standard biopsies take individual point samples.

Esophageal cancer is often preceded by Barrett’s esophagus, a condition in which cells within the lining of the esophagus begin to change shape and can grow abnormally. The cellular changes are cause by acid and bile reflux – when the stomach juices come back up the esophagus. Between one and five people in every 100 with Barrett’s esophagus go on to develop esophageal cancer in their life-time, a form of cancer that can be difficult to treat, particularly if not caught early enough.

At present, Barrett’s esophagus and esophageal cancer are diagnosed using biopsies, which look for signs of dysplasia, the proliferation of abnormal cancer cells. This is a subjective process, requiring a trained scientist to identify abnormalities.  Understanding how esophageal cancer develops and the genetic mutations involved could help doctors catch the disease earlier, offering better treatment options for the patient.

An alternative way of spotting very early signs of esophageal cancer would be to look for important genetic changes. However, researchers from the University of Cambridge have shown that variations in mutations across the esophagus mean that standard biopsies may miss cells with important mutations. A sample was more likely to pick up key mutations if taken using the Cytosponge, developed by Professor Rebecca Fitzgerald at the Medical Research Council Cancer Unit at the University of Cambridge.

“The trouble with Barrett’s esophagus is that it looks bland and might span over 10cm,” explains Professor Fitzgerald. “We created a map of mutations in a patient with the condition and found that within this stretch, there is a great deal of variation amongst cells. Some might carry an important mutation, but many will not. If you’re taking a biopsy, this relies on your hitting the right spot. Using the Cytosponge appears to remove some of this game of chance.”

Professor Fitzgerald and colleagues carried out whole genome sequencing to analyse paired Barrett’s esophagus and esophageal cancer samples taken at one point in time from 23 patients, as well as 73 samples taken over a three-year period from one patient with Barrett’s esophagus.

The researchers found patterns of mutations in the genome – where one ‘letter’ of DNA might change to another, for example from a C to a T – that provided a ‘fingerprint’ of the causes of the cancer. Similar work has been done previously in lung cancer, where it was shown that cigarettes leave fingerprints in an individual’s DNA. The Cambridge team found fingerprints which they believe are likely to be due to the damage caused to the lining of the esophagus by stomach acid splashing onto its walls; the same fingerprints could be seen in both Barrett’s esophagus and esophageal cancer, suggest that these changes occur very early on the process.

Even in areas of Barrett’s esophagus without cancer, the researchers found a large number of mutations in their tissue – on average 12,000 per person (compared to an average of 18,000 mutations within the cancer). Many of these are likely to have been ‘bystanders’, genetic mutations that occurred along the way but that were not actually implicated in cancer.

The researchers found that there appeared to be a tipping point, where a patient would go from having lots of individual mutations, but no cancer, to a situation where large pieces of genetic information were being transferred not just between genes but between chromosomes.

Co-author Dr Caryn Ross-Innes adds: “We know very little about how you go from pre-cancer to cancer – and this is particularly the case in esophageal cancer. Barrett’s esophagus and the cancer share many mutations, but we are now a step closer to understanding which are the important mutations that tip the condition over into a potentially deadly form of cancer.”

Source: University of Cambridge

Reference: Ross-Innes, CS et al. Whole-genome sequencing provides new insights into the clonal architecture of Barrett’s esophagus and esophageal adenocarcinoma. Nature Genetics; 20 July 2015

The Salgi Esophageal Cancer Research Foundation is a 501 (c) (3) non profit organization as recognized by the Internal Revenue Service.

Content found on Salgi.org is for informational purposes only. The Content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.

Today, May 29, 2015, is World Digestive Health Day (#WDHD2015)

As advocates for improving esophageal health and preventing esophageal cancer, The Salgi Esophageal Cancer Research Foundation understands the importance of awareness and education of the important role that the esophagus plays in the digestive system.

Esophageal cancer is considered the fastest growing cancer in the United States, according to the National Cancer Institute and is also considered one of the deadliest cancers.   Esophageal cancer research is extremely underfunded and there are no routine or standard tests to diagnose esophageal cancer in earlier stages to improve early detection and survival rates.

The esophagus is the first channel in the digestive tube and plays a simple yet significant part in the human digestive system.   The esophagus is a muscular tube through which food passes from the throat to the stomach.  This takes place when we swallow and food or liquids are pushed from the mouth, down and into the esophagus and empty into the stomach.  The lower esophageal sphincter is located at the base of the esophagus and is responsible for controlling the passage of food and liquid between the esophagus and stomach.

The LES is a ring-shaped muscle which relaxes to allow food and liquid into the stomach.  Once the food and liquid pass through the relaxed sphincter, it closes back up, thus keeping the food and liquid in the stomach.

Problems arise when the LES weakens and does not close properly.  When this happens, stomach contents escape the stomach and flow back up into the esophagus.  This backflow of stomach content is called reflux.  For those who experience reflux symptoms (heartburn included) more than twice a week may have Gastroesophageal Reflux Disease (GERD).

Sometimes Heartburn Isn’t Just An Inconvenience™

Heartburn is the most common symptom of acid reflux disease.  Other GERD symptoms include, but are not limited to, burning sensation in chest, regurgitation, chest pain and difficulty swallowing.

Some symptoms of acid reflux disease could also be indicators of something more serious.  For instance, RefluxMD states on their website that “although mild difficulty swallowing is often a common symptom of GERD, more severe difficulty swallowing could be a symptom of [esophageal] cancer and should be promptly evaluated.

Many people rely on medications, both over-the-counter and from a prescription, to help control their acid reflux symptoms.   Unfortunately, these medications only work to treat the symptoms of the disease, but do not stop the disease from progressing (getting worse) and do not stop damage from occurring to the esophagus.

Dr. Jamie Koufman, a physician in New York who specializes in voice disorders and acid reflux, explains in a New York Times article that a Danish study “concluded that there were no cancer-protective effects from using the common anti-reflux medications, called proton pump inhibitors and that regular long-term use was actually associated with an increased risk of developing esophageal cancer.”

Over time, the back-flow of stomach contents and acids irritate the esophagus and can cause serious damage to the esophagus, including Barrett’s esophagus (a sometimes pre-esophageal cancer condition) and can increase the risk of developing esophageal cancer.  Even if you are taking medications and not experiencing any symptoms, damage could still be occurring to the esophagus.

It is important to discuss any medical conditions or concerns with your doctor.  While the information provided here is intended for educational purposes, always speak to your doctor about your health.

If you or someone you know has GERD, RefluxMD has put together an eBook that is a must-read!  To download a FREE copy of “I Have GERD, Now What?” click here.

The Salgi Esophageal Cancer Research Foundation asks that you join us in raising awareness of the importance of esophageal health today and everyday!

The following are some additional links to articles from our website and others for further reading on this important topic:

The Lower Esophageal Sphincter, An Important Muscle You Didn’t Know You Had 

“I Have GERD, Now What” Free eBook provided by, RefluxMD 

I have esophageal cancer after 12 years of taking antireflux medication, RefluxMD

How do I find a GERD expert?, RefluxMD 

The Dangers of Eating Late at Night, Dr. Jamie Koufman

How is Heartburn Linked To Esophageal Cancer?

Join The Salgi Esophageal Cancer Research Foundation in raising awareness of the important role that the esophagus plays in the digestive system and spreading the word about esophageal cancer online.

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The Salgi Esophageal Cancer Research Foundation is a 501 (c) (3) non profit organization as recognized by the Internal Revenue Service.

Content found on Salgi.org is for informational purposes only. The Content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.