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Gardener Syndrome

Updated : September 4, 2023





Background

Familial adenomatous polyposis has a phenotypic variation called Gardner syndrome. It is an autosomal dominant condition marked by a higher likelihood of malignancy and multiple adenomatous polyps along the surface of the intestinal mucosa. Gardner syndrome is characterized by the emergence of intestinal polyposis and colorectal cancer.

Some examples of extracolonic presentations include desmoids, esophageal cysts, osteomas, and intestinal polyposis. Patients with Gardner syndrome frequently have fibromatosis, epidermal cysts, and cranial and mandibular osteomas. However, inflammation, pruritus, and rupture may be present along with these signs, which are frequently found to be asymptomatic. Congenital hypertrophy of the retinal epithelium is characterized by numerous bilateral pigmented ocular fundus lesions present at birth.

Epidemiology

In the United States, Gardner syndrome affects one in a million individuals, with an incidence rate of one in 8000. Epidermoid cysts are the most typical presenting symptom in Gardner syndrome patients. Gardner’s syndrome is expected to affect one in every 14,025 live births in the general population.

There have been reports of dental anomalies such as multiple unerupted supernumeraries, permanent teeth, and odontoma. It affects 30% of patients with dental anomalies.

Anatomy

Pathophysiology

The APC gene, a tumor suppressor gene found on the long arm of chromosome 5, produces a protein crucial for cell division, control, and growth. It plays a specific role in regulating a cell’s capacity to divide, attaching to other cells in the tissue, polarizing, and morphological alterations some of its components.

In terms of chromosomal movement during cell division, it also determines the mobility and direction of the cell. In particular, the APC gene-controlled protein beta-catenin prevents the overactivation of the proteins that stimulate cell division, thereby limiting cell growth and proliferation. In cancerous cells, the APC gene is frequently inactivated, leading to beta-catenin’s inactivation.

Etiology

The adenomatous polyposis coli gene, linked to band 5q21 on chromosome 5, is a tumor suppressor gene that generates the APC protein, which controls cell growth by timing in the cell cycle. This gene has been linked to the development of Gardner syndrome.

Patients with Gardner syndrome have this gene abnormality, which causes unchecked cell proliferation. In adjunct to the genetic changes, Gardner syndrome has also been associated with a mutation of the RAS gene on chromosome 12, loss of DNA methylation, omission of the colon cancer gene of chromosome 18, and mutation in the TP53 gene on chromosome 17.

Genetics

Prognostic Factors

Gardner syndrome does not have a treatment. The prognosis for someone with Gardner syndrome varies. However, if surgery is extended and polyp growth is not managed, a patient with an APC gene mutation will likely develop colon cancer by age 40. The best therapy options involve monitoring and symptom management.

Annual physical exams can improve a Gardner syndrome patient’s overall prognosis, thyroid function tests starting in late adolescence, colon screenings beginning at age ten and continuing every one to two years, and perhaps medication with NSAIDs like sulindac and COX2 inhibitors.

Clinical History

Physical Examination

Age group

Associated comorbidity

Associated activity

Acuity of presentation

Differential Diagnoses

Laboratory Studies

Imaging Studies

Procedures

Histologic Findings

Staging

Treatment Paradigm

by Stage

by Modality

Chemotherapy

Radiation Therapy

Surgical Interventions

Hormone Therapy

Immunotherapy

Hyperthermia

Photodynamic Therapy

Stem Cell Transplant

Targeted Therapy

Palliative Care

Medication

Media Gallary

References

https://www.ncbi.nlm.nih.gov/books/NBK482342/

Gardener Syndrome

Updated : September 4, 2023




Familial adenomatous polyposis has a phenotypic variation called Gardner syndrome. It is an autosomal dominant condition marked by a higher likelihood of malignancy and multiple adenomatous polyps along the surface of the intestinal mucosa. Gardner syndrome is characterized by the emergence of intestinal polyposis and colorectal cancer.

Some examples of extracolonic presentations include desmoids, esophageal cysts, osteomas, and intestinal polyposis. Patients with Gardner syndrome frequently have fibromatosis, epidermal cysts, and cranial and mandibular osteomas. However, inflammation, pruritus, and rupture may be present along with these signs, which are frequently found to be asymptomatic. Congenital hypertrophy of the retinal epithelium is characterized by numerous bilateral pigmented ocular fundus lesions present at birth.

In the United States, Gardner syndrome affects one in a million individuals, with an incidence rate of one in 8000. Epidermoid cysts are the most typical presenting symptom in Gardner syndrome patients. Gardner’s syndrome is expected to affect one in every 14,025 live births in the general population.

There have been reports of dental anomalies such as multiple unerupted supernumeraries, permanent teeth, and odontoma. It affects 30% of patients with dental anomalies.

The APC gene, a tumor suppressor gene found on the long arm of chromosome 5, produces a protein crucial for cell division, control, and growth. It plays a specific role in regulating a cell’s capacity to divide, attaching to other cells in the tissue, polarizing, and morphological alterations some of its components.

In terms of chromosomal movement during cell division, it also determines the mobility and direction of the cell. In particular, the APC gene-controlled protein beta-catenin prevents the overactivation of the proteins that stimulate cell division, thereby limiting cell growth and proliferation. In cancerous cells, the APC gene is frequently inactivated, leading to beta-catenin’s inactivation.

The adenomatous polyposis coli gene, linked to band 5q21 on chromosome 5, is a tumor suppressor gene that generates the APC protein, which controls cell growth by timing in the cell cycle. This gene has been linked to the development of Gardner syndrome.

Patients with Gardner syndrome have this gene abnormality, which causes unchecked cell proliferation. In adjunct to the genetic changes, Gardner syndrome has also been associated with a mutation of the RAS gene on chromosome 12, loss of DNA methylation, omission of the colon cancer gene of chromosome 18, and mutation in the TP53 gene on chromosome 17.

Gardner syndrome does not have a treatment. The prognosis for someone with Gardner syndrome varies. However, if surgery is extended and polyp growth is not managed, a patient with an APC gene mutation will likely develop colon cancer by age 40. The best therapy options involve monitoring and symptom management.

Annual physical exams can improve a Gardner syndrome patient’s overall prognosis, thyroid function tests starting in late adolescence, colon screenings beginning at age ten and continuing every one to two years, and perhaps medication with NSAIDs like sulindac and COX2 inhibitors.

https://www.ncbi.nlm.nih.gov/books/NBK482342/