Cancers associated with Gardner syndrome can be present in the liver, bile duct, thyroid, kidneys, stomach, pancreas, small bowel, central nervous system (CNS), and adrenal glands.
Origin of the Term ‘Gardner Syndrome’Gardner syndrome is named after Dr. Eldon J. Gardner, an American geneticist from Logan, Utah, who first described the syndrome in 1951.
Epidemiology of Gardner SyndromeThe frequency of occurrence of Gardner syndrome in the general population is estimated to be between 1 in 12,000 and 1 in 1,400 live births. The average age of appearance of the polyps (the primary feature of Gardner syndrome) is 16 years. These polyps can become cancerous and in the absence of surgical removal of the colon, colorectal cancer can occur within 39 years of age.
benign polyps in the colon, which occur in 80-99% of individuals.
Some of the other symptoms and signs of Gardner syndrome include the following:
- Colon Cancer: Invasive colorectal cancer is a major symptom of Gardner syndrome, which can occur in up to 100% of individuals in the absence of treatment.
- Dental Abnormalities: These occur in 5-29% of individuals and include the formation of cavities, extra teeth/increased tooth count, supplemental teeth, as well as tooth decay and failure of tooth eruption.
- Osteomas: These are non-cancerous bony tumors that develop on the skull and jaws.
- CHRPE: This is the acronym for congenital hypertrophy of the retinal pigment epithelium. In this condition, the pigmented layer of the retina can become thicker than normal at birth (congenital) or may thicken later in life. CHRPE usually does not interfere with vision.
- Skin Symptoms: These are usually benign symptoms, including epidermoid cysts, fibromas, and hyperpigmentation. Sometimes, these skin conditions can become itchy, inflamed and may rupture.
- Colonoscopy: This is recommended annually, once polyps are detected. Colonoscopy should continue till a colectomy (surgical removal of a part or the entire colon) is done. Colectomy is recommended due to the large number of polyps and the high risk of colorectal cancer.
- Sigmoidoscopy: This procedure is generally recommended after colon surgery for monitoring the lower extremity of the colon, technically termed as the sigmoid colon, which is located just adjacent to the rectum. This surveillance is carried out regularly in order to detect any early signs of recurrence.
- Upper Endoscopy: In upper endoscopy, the upper portion of the gastrointestinal (GI) tract i.e. the esophagus (food pipe), stomach and duodenum are observed through an endoscope to detect any pathological changes. This procedure is recommended once a year after the polyps start to appear in the colon.
- Ultrasonography (USG): A yearly ultrasound of the thyroid is recommended starting at the age of 25-30 years to detect any tumors at an early stage.
- CT Scan and MRI: The highly sensitive visualization techniques, namely, computed tomography (CT) scan or magnetic resonance imaging (MRI), are recommended for persons having a personal or family history of desmoid tumors.
- Genetic Testing: This test uses a small blood sample and looks for any germline mutations in the APC gene, which is genetically linked to chromosome 5q21.
- Medical Treatment: Some medications that are used for the management of Gardner syndrome include injection of steroids within the lesions of epidermoid cysts. Also, non-steroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen, diclofenac, celecoxib, and indomethacin can be used, which help to limit the growth of colonic polyps. In case the polyps become malignant, radiation therapy and chemotherapy are the treatment modalities of choice.
- Surgical Treatment: Surgery is primarily used for colectomy in severe cases of multiple polyposis, prior to development of invasive cancer. Surgery is also useful for excising (surgically removing) relatively large tumors that do not respond to medications. For example, osteomas and lipomas can be excised if they severely deform the affected part of the body.
|Type of Cancer||Estimated Cancer Risk|
|Colorectal cancer||Up to 100% if not treated|
|Small bowel cancer||4-12%|
|Hepatoblastoma (liver cancer)||1.5%|
|Brain and CNS cancer||less than 1%|