MOLECULAR EXAMINATIONS
Colorectal Cancer
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Intestinal polyps & anatomy
Colon cancer begins when healthy cells in the lining of the colon or rectum mutate and grow out of control, forming a mass called a tumor. A tumor can be cancerous or benign. A cancerous tumor is malignant, which means it can grow and spread to other parts of the body (metastasis). A benign tumor means the tumor can grow but will not spread. These changes usually take years to develop and grow.
Genetic and environmental factors can cause these changes. However, when a person has an inherited syndrome (see Risk Factors), the changes may occur over a shorter period of time.
Anatomy of the Large Intestine and Rectum
The colon and rectum make up the large intestine, which plays an important role in the body’s ability to process food waste.
The large intestine and rectum are divided into 5 sections. The ascending colon is the part that extends from an area called the cecum. The cecum is the beginning of the large intestine where the small intestine empties its contents and is on the right side of the abdomen. The transverse colon runs lengthwise across the upper part of the abdomen. The descending colon pushes the contents further down to the left side. Finally, the sigmoid colon at the bottom ends a few more centimeters at the rectum. Stool leaves the body through the anus.
About Colon Polyps (Colorectal Polyps)
Colon cancer most often starts as a polyp, a noncancerous growth that can grow on the inner lining of the colon or rectum. If left untreated or removed, a polyp can become potentially life-threatening because it can turn into cancer over time. Finding and removing precancerous polyps can prevent the development of colon cancer. There are many forms of polyps. Adenomatous polyps, or adenomas, are neoplasms that can become cancerous. They are detected by colonoscopy by a gastroenterologist (see Risk Factors).
Hyperplastic polyps can also develop in the colon and rectum and are not considered precancerous.
Most colon cancers (about 95%) are considered sporadic, meaning that the genetic mutations develop randomly after a person is born, so there is no risk of passing these genetic changes on to children. Hereditary colon cancers are less common (about 5%) and occur when gene mutations are inherited in a family from one generation to the next. Often, the cause of colon cancer is not known. However, the following factors may increase a person’s risk of developing colon cancer:
Age.
The risk of colon cancer increases as people get older. Colon cancer can occur in young adults and teenagers, but the majority of colon cancers occur in people over the age of 50. For colon cancer, the average age at diagnosis is 68 for men and 72 for women.
It is important to note that while colon cancer is still diagnosed more often in older adults, its incidence rate has decreased by about 5% per year in adults aged 65 and older and by 1.4% per year in adults aged 50 to 64, based on the latest statistics. Meanwhile, the incidence rate has increased by about 2% per year in adults under 50. The increase is largely due to the increasing number of rectal cancers. About 11% of all colon cancer cases occur in people under 50.
Sex.
Men have a slightly higher risk of developing colon cancer than women.
Family history of colon cancer .
Colon cancer can run in the family if first-degree relatives (parents, brothers, sisters, children) or other family members (grandparents, uncles, nieces, nephews, grandchildren, cousins) have had colon cancer. This is especially true when family members are diagnosed with colon cancer before the age of 60. If a person has a family history of colon cancer, that person’s risk of developing the disease is almost doubled. The risk is further increased if other close relatives have also developed colon cancer or if a first-degree relative was diagnosed at a young age.
It is important to talk to your family members about your history of colon cancer, if any. If you think you may have a family history of colon cancer, talk to a genetic counselor first before having genetic (molecular) testing. Only genetic testing can determine whether you have a genetic mutation, and genetic counselors are trained to explain the risks and benefits of genetic testing.
Rare hereditary conditions.
Members of families with certain uncommon hereditary conditions also have a significantly increased risk of developing colon cancer, as well as other types of cancer. These conditions include:
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- Familial Adenomatous Polyposis
- Gardner syndrome, a variant of FAP
- Lynch syndrome, also called hereditary non-polyposis colorectal cancer (HNPCC)
- Juvenile polyposis syndrome (JPS)
- Muir-Torre syndrome, a variant of Lynch syndrome
- MYH-associated polyposis (MAP)
- Peutz-Jeghers syndrome (PJS)
- Turcot syndrome, a variant of FAP and Lynch syndrome
- Idiopathic Inflammatory Bowel Disease (IBD).
- People with IBD, such as ulcerative colitis or Crohn’s disease, have an increased risk of developing colon cancer. IBD is not the same as irritable bowel syndrome (IBS). IBS does not increase the risk of colon cancer.
Adenomatous polyps (adenomas).
Polyps are not cancer, but certain types of polyps called adenomas can develop into colorectal cancer over time. Polyps can be removed using an instrument during a colonoscopy, a test in which a gastroenterologist examines the colon using a lighted tube. People who have had adenomas have a higher risk of developing additional polyps and colon cancer and should be monitored regularly.
Personal history of certain types of cancer.
People with a personal history of colon cancer and women who have had ovarian cancer or uterine cancer are more likely to (re)develop colon cancer.
Race.
People of color have the highest rates of sporadic or non-hereditary colon cancer in the United States. Colon cancer is also the leading cause of cancer-related death among people of color.
Physical inactivity and obesity.
People who do not exercise regularly and people who are overweight or obese may have an increased risk of colon cancer.
Diet.
Current research consistently links eating more red meat and processed meat to a higher risk of the disease.
Smoking.
Recent studies have shown that smokers are more likely to die from colon cancer than nonsmokers.
For most types of cancer, a biopsy is the only sure way for a doctor to know if an area of the body has cancer. In a biopsy, the doctor takes a small sample of tissue for histological examination in a pathology laboratory.
The following list describes options for diagnosing this type of cancer. Not all of the tests listed below are used for every person. Your doctor will consider the following factors when choosing a diagnostic test:
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- The type of cancer suspected
- Your symptoms
- Your age and general health status
- The results of previous medical examinations
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Colonoscopy . A colonoscopy allows the gastroenterologist to look inside the entire rectum and large intestine. If a suspicious lesion is seen, the doctor takes a tissue sample, a procedure called a biopsy.
Biopsy . A biopsy is the removal of a small amount of tissue for examination under a microscope. Other tests may suggest that cancer is present, but only a biopsy can make a definitive diagnosis of colon cancer. A pathologist is a doctor who specializes in interpreting laboratory tests and evaluating cells, tissues, and organs to diagnose disease (histological examination). A biopsy may be done during a colonoscopy, or it may be done on any tissue removed during surgery.
Molecular testing of the tumor . Your doctor may recommend performing laboratory molecular tests on a tumor sample to identify specific genes, proteins, and other factors unique to the tumor. The results of these tests can help your doctor determine your treatment options.
All colon cancers should be tested for problems in mismatch repair proteins, called a mismatch repair defect (dMMR). The purpose of this test is twofold. First, this test is a way to look for Lynch syndrome (see Risk Factors). Second, the results will be used to determine whether immunotherapy should be considered in patients with metastatic disease. This testing can either be done using special immunohistochemical stains on biopsy or surgical tissue or by assays that look for mutations called microsatellite instability (MSI).
Additional diagnostic tests:
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- Blood tests (cancer marker CEA)
- Computed tomography (CT scan)
- PET scan
- Ultrasound
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The tool that doctors use to stage colon cancer is the TNM system. Doctors use the results of the histological examination (pTNM) and imaging tests (CT, MRI, etc.) to answer the questions:
Tumor (T-tumor): How big is the primary tumor? Where is it located?
Lymph node (N-node): Has the tumor metastasized to the lymph nodes? If so, where and to how many lymph nodes?
Metastasis (M-metastasis): Has the cancer metastasized to other parts of the body? If so, where and to what extent?
The results are combined to determine the stage of cancer for each person.
Here are more details about each part of the TNM system for colon cancer:
The tumor (T)
Using the TNM system, “T” plus a letter or number (0 to 4) is used to describe how deep the tumor has grown into the wall of the intestine. The stage can also be divided into smaller groups that help describe the tumor in more detail. Specific information about the tumor is listed below.
TX: The primary tumor cannot be assessed.
T0: (T plus zero): There is no evidence of cancer in the colon or rectum.
Tis: Refers to carcinoma in situ (also called cancer in situ). The cancer cells are found only in the epithelium or dermis of the mucosa, which are the upper layers that line the inner wall of the colon or rectum.
T1: The tumor has grown into the submucosa, which is the layer of tissue beneath the lining of the colon.
T2: The tumor has grown into the muscularis mucosa, a deeper, thicker layer of muscle in the wall of the intestine.
T3: The tumor has grown and spread into the muscularis mucosa and serosa. The serosa is a thin layer of connective tissue that forms the outer covering of the large intestine.
T4a: The tumor has grown on the surface of the visceral peritoneum, meaning it has grown and infiltrated all layers of the colon.
T4b: The tumor has invaded other organs or structures.
Lymph Nodes (N)
The “N” in the TNM system stands for lymph nodes. Lymph nodes are tiny, bean-shaped organs found throughout the body. Lymph nodes help the body fight infections as part of the immune system. The lymph nodes near the colon and rectum are called regional lymph nodes. All others are distant lymph nodes found in other parts of the body.
NX: Regional lymph nodes cannot be assessed.
N0 (N plus zero): There is no spread to regional lymph nodes.
N1a: There are cancer cells found in 1 regional lymph node.
N1b: There are cancer cells found in 2 or 3 regional lymph nodes.
N1c: There are nodules made up of cancer cells located in structures near the colon that do not appear to be lymph nodes.
N2a: There are cancer cells found in 4 to 6 regional lymph nodes.
N2b: There are cancer cells found in 7 or more regional lymph nodes.
Metastasis (M)
The “M” in the TNM system describes cancer that has spread to other parts of the body, such as the liver or lungs. This is called distant metastasis.
M0 (M plus zero): The disease has not spread to a distant part of the body.
M1a: The cancer has spread to another part of the body beyond the colon or rectum.
M1b: The cancer has spread to more than 1 part of the body other than the colon or rectum.
M1c: The cancer has spread to the peritoneal surface.
It is important to remember that the symptoms of colon cancer listed in this section are the same as those of extremely common non-cancer conditions, such as hemorrhoids and irritable bowel syndrome (IBS). Early detection of the disease makes successful treatment more likely. However, many people with colon cancer do not have symptoms until the disease is advanced, so people should be screened regularly.
People with colon cancer may experience the following symptoms. As mentioned above, it is also possible that these changes may be caused by a condition other than cancer, especially the general symptoms of abdominal discomfort, bloating, and irregular bowel movements.
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- Diarrhea, constipation, or a feeling that the bowels are not emptying completely
- Bright red or very dark blood in the stool
- Stools that appear narrower or thinner than normal
- Constipation, including frequent gas pains, bloating, feeling of fullness
- Unexplained weight loss
- Constant fatigue or malaise
- Unexplained iron deficiency anemia
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Talk to your doctor if any of these symptoms last for several weeks or become more severe. If you are concerned about any changes you are experiencing, please talk to your doctor and ask to schedule a colonoscopy.
Targeted therapy is a treatment that targets specific genes, proteins, or the environment of cancer tissues that contribute to the growth and survival of the cancer. This type of therapy prevents the growth and spread of cancer cells and limits damage to healthy cells.
Not all tumors have the same targets. To find the most effective treatment, your doctor may perform tests to identify the genes, proteins, and other factors in your tumor. This helps doctors better match each patient with the most effective treatment whenever possible. In addition, research studies continue to discover more about specific molecular targets and new treatments that target them.
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FAQ
By analyzing many genes and proteins simultaneously, this test offers a detailed molecular profile of colon cancer, based on which your clinician (oncologist) will select the optimal treatment for you individually.
Consult your Oncologist for the best choice and personalization for you.
Colon cancer can carry mutations in the genes KRAS, NRAS, BRAF, PTEN, PIK3CA, HER2, POLD1, POLE, etc. and exhibit microsatellite instability.
Specific treatments (targeted therapy) are available for these genetic alterations. In this way, the proliferation of cancer cells is limited or the body’s immune defense response against cancer is ensured to be more effective.
The tests are performed on the surgical specimen (paraffin cubes) or the biopsy material (paraffin cube) from which your histological examination was performed or on the aspiration material (FNAB, EBUS) from which your cytological examination was performed. In our fully integrated Laboratory, the pathologist selects the most appropriate & representative paraffin cube, ensuring that the most appropriate sample will be used for the tests. Qualitative and quantitative parameters are checked.
In case your sample is not already at Microdiagnostics archive, please contact us immediately so that we can arrange for its safe and rapid transport to our laboratory. You will also need to quickly and easily complete the Consent Form.
Most of the time, the sample material we are called upon to handle is small because it has resulted from a minimally invasive method (needle biopsy, fluid aspiration, paraffin block with minimal material).
In our laboratory, Pathologists check in a timely manner whether the material to be examined is sufficient. If so, then a management algorithm is followed, with the aim of achieving the performance of multiple tests on the material (Immunohistochemistry, real-time PCR, NGS) in order to fully check the molecular profile of your tumor (proteins, genes, histological Grading).
In this case, and once sample enrichment manipulations have been exhausted, we contact your clinician to discuss alternative approaches in order to obtain the desired information to select the optimal treatment for you. Some examples:
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- Performing an alternative test (e.g. Immunohistochemistry instead of PCR, or choosing Next Generation Sequencing (NGS))
- Performing Immunohistochemistry instead of FISH (Fluorescent In Situ Hybridization) and vice versa
- Possible blood sampling instead of tissue testing (liquid biopsy)
- Possible option to take a new biopsy or puncture
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Contact us at 2310 23 22 72 and we will immediately assist you in quickly transporting the sample to our laboratory.
By cash, bank card, bank deposit, or Online interbank deposit.
One of the primary concerns at Microdiagnostics is the protection of your personal data as well as the strict observance of the conditions for the protection of your genetic material and medical results.
In full compliance with the General Data Protection Regulation (GDPR), we ensure that any test conducted is done with your knowledge and consent and we do not communicate results over the phone.