Last week, we told you about how Rachel found out that she had tested positive for the CDH1 gene mutation. This week we will tell you about how Rachel discovered that she had Hereditary Diffuse Gastric Cancer.
Stomach (gastric) cancer is the fourth most common cause of cancer worldwide, and the second leading cause of cancer deaths worldwide. The overall 5-year survival rate is 24.3%.
– excerpt from the No Stomach For Cancer information sheet.
Next steps after a positive test for CDH1.
After Rachel discovered that she had tested positive for the CDH1 gene mutation, she knew that the chance of her also getting HDGC was very high. As a next step, Rachel’s genetic counselor booked an upper endoscopy – a visual examination of the stomach by means of an endoscope.
Why an endoscopy?
Some background: HGDC accounts for 1-3% of all cancers. Testing for HDGC is very difficult because it is a diffuse-type, signet ring cell gastric adenocarcinoma. Signet rings appear as isolated cells or in small clusters in the lining (the submucosal layer) of the stomach. As Rachel said in her personal blog, it’s almost like finding a needle in a haystack, which is why most cases of diffuse gastric cancer are diagnosed at late stages (III or IV), at which point the cancer is incurable.
Endoscopies are done to both get visual images of the stomach and to take biopsies to test for the presence of cancerous cells. However, even biopsies taken during a endoscopy do not always show that there is any cancer present in the stomach (even for an individual who is positive for the CDH1 gene mutation, like Rachel). This is why – even prior to the endoscopy – Rachel had already decided to have a gastrectomy.
For more detailed information, click on this link:
When negative might not be negative.
Rachel got the results of her first endoscopy in January and they came back negative. However, the oncologist had taken a more routine approach in collecting the biopsies. This is not atypical, nor is it bad practice, but if you are searching for HDGC, there are certain areas that should be biopsied that fall outside of that range and aren’t part of the typical endoscopy process.
As such, the oncologist told Rachel that she wanted to re-do the endoscopy and spend a lot more time collecting samples to biopsy. Rachel – having done some thorough and specific research – worked with her oncologist by sharing medical journal articles with about doing endoscopic biopsies for HDGC.
Although Rachel and her family were fairly convinced that the results from her second endoscopy would come back negative, the biopsy was positive for cancer, classified specifically as Tis. See below.
TNM System for Staging Gastric Cancer
Primary tumor (T):
Tis = carcinoma in situ: intraepithelial tumor with
out invasion of lamina propria
T1 = tumor invades lamina propria or submucosa
T2 = tumor invades muscularis propria or subserosa
T3* = tumor penetrates serosa (visceral peritoneum)
without invasion of adjacent structures
T4**,*** = tumor invades adjacent structure
This was a big surprise for both the oncologist and Rachel, particularly since the endoscopy had appeared to be totally normal – only the biopsies revealed the cancer hidden beneath.
On her personal blog:
“My initial reaction was, ‘AMAZING! You found it!’. One research article I read said that to have at 90% chance of finding the signet ring cells, you would have to take 1760 biopsies, which is unrealistic. I wanted to give her a high five but thought that was a little unprofessional. I was fairly certain that there would be cancer in my stomach once removed but there was always a little bit of doubt in the back of my mind. It sounds weird but I was actually really relieved. I knew that I would be upset if my stomach was removed and nothing was found on the pathological report. This just confirmed my decision to have my stomach removed. Also the decision has now been made for me that I should get my stomach out now vs. later. The oncologist was just as amazed that something came up on the pathology report because from what she saw in the endoscopy, everything was normal. Who would expect a 29 year old to have stomach cancer?’
Next week: Gastrectomy preparation, timeline, and Rachel’s outlook.
NoStomachForCancer: to make donations towards stomach cancer research or get more information: www.nostomachforcancer.org
Rachel’s blog: http://cytosinedeleted.wordpress.com/