Gardner Syndrome

A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract.

Also Known As:

Networked: 150 relevant articles (2 outcomes, 1 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Adenoma (Adenomas)
2.	Polyps
3.	Carcinoma (Carcinomatosis)
4.	Peutz-Jeghers Syndrome (Polyposis, Hamartomatous Intestinal)
5.	Ulcerative Colitis

Experts

1.	Pironi, L: 4 articles (01/2014 - 03/2007)
2.	Pinna, A D: 4 articles (01/2014 - 03/2007)
3.	Lauro, A: 4 articles (01/2014 - 03/2007)
4.	Zanfi, C: 4 articles (01/2014 - 03/2007)
5.	Ravaioli, M: 3 articles (01/2014 - 03/2007)
6.	Ercolani, G: 3 articles (01/2014 - 03/2007)
7.	Dazzi, A: 3 articles (01/2014 - 03/2007)
8.	Lin, Otto S: 2 articles (10/2012 - 04/2007)
9.	Kozarek, Richard A: 2 articles (10/2012 - 04/2007)
10.	Nosé, Vânia: 2 articles (01/2012 - 11/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Gardner Syndrome:

1.	Sulindac (Copal)FDA LinkGeneric 05/01/1995 - "Two cases of Gardner's syndrome received sulindac treatment, and no evidence of malignancy was found after three years of follow-up." 11/01/2001 - "A 22-year-old woman with Gardner's syndrome in whom long-term sulindac therapy, without surgical treatment, was effective in inducing complete regression of colonic adenomas is reported. " 03/01/1990 - "Sulindac suppression of colorectal polyps in Gardner's syndrome." 11/01/2001 - "Complete regression of colonic adenomas after treatment with sulindac in Gardner's syndrome: a 4-year follow-up." 08/01/1995 - "The effect of sulindac, a nonsteroid antiinflammatory drug, has been reported to cause both regression and suppression of colon polyps in patients with familial adenomatous polyposis and Gardner's syndrome. "
2.	Turcot syndromeIBA 03/01/1996 - "In case a Gardner's syndrome is suspected, a computed tomography scan of the brain is recommended because of the possible existence of a simultaneous Turcot syndrome." 03/01/1996 - "This concomitant occurrence of both Gardner's and Turcot syndromes in one patient clinically supports genetic and ophthalmic investigation to consider Turcot syndrome (like Gardner's syndrome) as a phenotypic variant of FAP. " 07/10/1976 - "[Polyposis coli syndrome--Gardner's syndrome, Zanca's syndrome and Turcot syndrome]." 01/01/2010 - "Stemming from a mutation in the adenomatous polyposis coli (APC) gene, Gardner syndrome shares genetic correlations with the FAP phenotype; as a result, it becomes all the more crucial for physicians to be able to discern Gardner syndrome from other differential diagnoses such as Turcot syndrome, FAP, and other attenuated forms of familial polyposis. " 01/01/2009 - "Syndromes with a germline mutation in the APC gene include FAP, Gardner syndrome, Turcot syndrome, and Attenuated Adenomatous Polyposis Coli (AAPC). "
3.	DiamondIBA 10/01/2013 - "Auto-erythrocyte sensitization syndrome (Gardner-Diamond syndrome) in a 15-year-old adolescent girl." 07/01/2001 - "A 54-year old anorectic patient with painful bruising syndrome (Gardner-Diamond syndrome) suffered from various gastrointestinal and psychologic complaints. " 01/01/1998 - "The history, histology, and positive "skin-test," carried out by subcutaneously injecting autologous erythrocytes obtained from heparinized blood, confirmed the suspected diagnosis of Diamond-Gardner syndrome. " 01/01/1998 - "Diamond-Gardner syndrome: a case report." 05/01/1982 - "[Erythrocyte sensitization syndrome (Gardner-Diamond syndrome, Sharp's painful bruising syndrome)]."
4.	Retinaldehyde (Retinal)IBA 08/01/1992 - "Through indirect ophthalmoscopic examination it was possible to analyse three families originated from the same Swiss alpine valley (Poschiavo) and carrying Gardner syndrome (SdG) to check if their members with SdG were presenting hypertrophic changes of the retinal epithelium which is supposed to be an early symptom of that syndrome. " 10/01/1988 - "No association was found between Gardner syndrome and the retinal lesions when these patients were compared to patients without any stigmata of Gardner syndrome, nor was any significant association found when each of the expressions was compared individually with the presence of the pigmented retinal lesions. " 10/01/1988 - "We found retinal lesions in 8 patients without any of the expressions of Gardner syndrome. " 01/01/2010 - "Fortunately, Gardner syndrome has characteristic polyps in the colon, osteomas, and also exhibits abnormalities in the retinal epithelium that discern it from others. " 07/01/2009 - "This postulation is based on the presence of common clinical manifestations (ie, cysts, retinal abnormalities, and fibrosis) in Gardner's syndrome and cilia-related disorders. "
5.	Gardner-Diamond syndromeIBA 11/20/2009 - "[Autoerythrocyte sensitization syndrome (Gardner-Diamond syndrome)]." 05/01/2009 - "Autoerythrocyte sensitization syndrome (Gardner-Diamond syndrome): review of the literature." 09/01/2003 - "We report a case with an unusual manifestation of autoerythrocyte sensitization syndrome (Gardner-Diamond syndrome). " 03/01/1998 - "Psychogenic purpura, also known as recurrent painful bruising or autoerythrocyte sensitization syndrome (Gardner-Diamond syndrome) is usually associated with emotionally disturbed patients. " 12/01/2008 - "Autoerythrocyte sensitization syndrome (Gardner-Diamond syndrome) associated with cutaneous vasculitis."
6.	DNA (Deoxyribonucleic Acid)IBA 08/01/1995 - "DNA-based diagnostic testing is now available for hereditary breast-ovarian cancer, for hereditary nonpolyposis colon cancer, for Gardner syndrome (familial polyposis coli), for neurofibromatosis, multiple endocrine neoplasia, and for Von-Hippel Lindau disease. " 09/01/2007 - "Suspected patients should have a complete workup for Gardner's syndrome, including lower gastrointestinal tract endoscopy, barium enema imaging, and DNA testing." 10/01/1984 - "The incidence of in vitro tetraploidy during logarithmic growth in dermal fibroblast monolayer cultures from normals without a family cancer history and affected with heritable colon cancer syndromes, familial polyposis coli (FPC) and the Gardner syndrome (GS) was assayed by (1) examination of metaphase preparations for percentage of tetraploids (4N nuclei); (2) determination of [3H]thymidine incorporation (average cpm/cell); and (3) measurement by flow cytophotometry of the percentage of cells with greater than 4C DNA content. " 06/01/1990 - "Exposure of fibroblasts derived from keloid tissues, desmoid and dermal tissue from individuals with Gardner's syndrome (GS) to dexamethasone resulted in the suppression of protein kinase C (PKC) activity and [3H]thymidine incorporation into DNA, and a 20-fold induction of glutamine synthetase activity. "
7.	ThymidineIBA 09/01/1984 - "Classification and risk assessment of individuals with familial polyposis, Gardner's syndrome, and familial non-polyposis colon cancer from [3H]thymidine labeling patterns in colonic epithelial cells." 10/01/1984 - "The incidence of in vitro tetraploidy during logarithmic growth in dermal fibroblast monolayer cultures from normals without a family cancer history and affected with heritable colon cancer syndromes, familial polyposis coli (FPC) and the Gardner syndrome (GS) was assayed by (1) examination of metaphase preparations for percentage of tetraploids (4N nuclei); (2) determination of [3H]thymidine incorporation (average cpm/cell); and (3) measurement by flow cytophotometry of the percentage of cells with greater than 4C DNA content. " 06/01/1990 - "Exposure of fibroblasts derived from keloid tissues, desmoid and dermal tissue from individuals with Gardner's syndrome (GS) to dexamethasone resulted in the suppression of protein kinase C (PKC) activity and [3H]thymidine incorporation into DNA, and a 20-fold induction of glutamine synthetase activity. "
8.	Genetic Markers (Genetic Marker)IBA 06/01/1988 - "Gardner's syndrome: current concepts and use of a new genetic marker." 11/01/1986 - "Chromosome analysis of blood cells from a 42-year-old white male with mental retardation, colon carcinoma, horseshoe kidney, absence of left lobe of the liver, agenesis of the gallbladder, and possible Gardner syndrome revealed a constitutional marker chromosome due to del(5)(q13q15) or del(5)(q15q22). " 09/01/1983 - "Using adjacent DNA sequence polymorphisms as genetic markers, we have examined two oncogenes, the Kirsten ras2, isolated from a human colon cancer cell line, and the Harvey ras1, isolated from a human bladder cancer cell line, for their role in the genetic etiology of inherited colon cancer in Gardner syndrome. "
9.	Estrogens (Estrogen)FDA Link 01/01/2015 - "They are associated with high estrogen states, prior surgical trauma, and Gardner syndrome. " 08/01/1995 - "Estrogen levels, a history of trauma and Gardner's syndrome have been incriminated. " 04/01/1990 - "Seventeen patients had Gardner syndrome, 12 had prior abdominal surgery, and six had apparent estrogen elevation, including five pregnant or postpartum women and an alcoholic male with gynecomastia. "
10.	papillary Thyroid cancerIBA 04/01/1988 - "Papillary thyroid carcinoma and characteristic pigmented ocular fundus lesions in a patient with Gardner's syndrome." 01/01/2012 - "We report a case history of familial adenomatous polyposis-associated papillary thyroid carcinoma occurring in a 55-year-old man with Gardner syndrome, underscoring the importance of careful ultrasound screening examination of the thyroid gland in this condition." 04/01/2014 - "Also in this group 5-15% of carcinomas are cases of different familial syndromes (Gardner, Cowden, Werner syndromes and Carney complex) or only simple familial papillary thyroid carcinoma. "

Therapies and Procedures

1.	Endoscopes 07/01/1996 - "In this article, we illustrate the course of Gardner's Syndrome (GS), where in spite of early diagnoses, which now begin with molecular genetics and continues to endoscope examinations, and radical operative intervention, the quality of life of the patient is not improved to any great degree. "
2.	Colectomy 01/01/2014 - "We report the case of a 39-year-old man with Gardner's syndrome who had already undergone a total prophylactic colectomy. " 10/01/2012 - "We report a unique case of a 70-year-old woman with Gardner's syndrome who had a subtotal colectomy with ileoproctostomy. " 04/01/2007 - "A 64-year-old woman with Gardner's syndrome and a history of colectomy and subsequent episodes of small bowel obstruction underwent capsule endoscopy to define the site of obstruction. " 04/01/2006 - "We present a patient with Gardner's syndrome who was had colectomy at early age. " 11/01/1995 - "Twenty patients from 16 families with the established diagnosis of FAP, or Gardner's syndrome, who had been treated by total colectomy with ileorectal anastomosis, were followed up by proctoscopy for at least 5 years. "
3.	Transplants (Transplant) 04/27/1999 - "Recurrence of desmoid tumor in a multivisceral transplant patient with Gardner's syndrome." 10/01/2013 - "The most common indications for transplant were SGS, intestinal ischemia, Crohn's disease, trauma, motility disorders, and Gardner's syndrome. " 09/01/2005 - "CT examination is crucial for the detection of fluid collections, abscesses, and fistulas because it can serve as a guide of drainage and during follow-up of patients with Gardner syndrome can be used to investigate all possible sites in which desmoids might arise in addition to their relation to the graft. " 07/01/2007 - "Between December 2000 and November 2006, 28 isolated intestinal transplants and nine multivisceral transplants (five with liver) from cadaveric donors have been performed for short gut syndrome (n = 15), chronic intestinal pseudo-obstruction (n = 10), Gardner's syndrome (n = 9), radiation enteritis (n = 1), intestinal atresia (n = 1), and massive intestinal angiomatosis (n = 1). " 03/01/2007 - "Between December 2000 and December 2005, 25 isolated intestinal transplants from cadaveric donors have been performed for short gut syndrome (short bowel syndrome, 52%), chronic intestinal pseudo-obstruction (24%), Gardner syndrome (16%), radiation enteritis (4%) and massive intestinal angiomatosis (4%). "
4.	Transplantation (Transplant Recipients) 01/01/2014 - "Our results showed indeed that recipients affected by Gardner syndrome must be carefully selected before the disease is to advanced to take advantage of the transplantation procedure." 11/01/2013 - "We report a case of an adult small bowel recipient, who underwent transplantation due to Gardner's Syndrome 6 years earlier and was EBV positive. " 08/01/2006 - "We herein report the use of a segment of transplanted ileum for this purpose in a patient with Gardner's syndrome who underwent multivisceral transplantation. " 09/01/2005 - "CT examination was performed 2 to 4 weeks after surgery to evaluate the anatomy of the transplanted organs, arterial and venous anastomoses in case of complications identified with other methods or suspected, and periodically in the follow-up of patients who underwent transplantation due to Gardner syndrome. " 06/27/2011 - "Modified multivisceral transplantation with spleen-preserving pancreaticoduodenectomy for patients with familial adenomatous polyposis "Gardner's Syndrome"."
5.	Drug Therapy (Chemotherapy) 06/01/1984 - "[Regression of adenomas in Gardner's syndrome induced by systemic chemotherapy]." 01/01/2006 - "Gardner's syndrome in a 40-year-old woman: successful treatment of locally aggressive desmoid tumors with cytotoxic chemotherapy." 09/01/1991 - "Effective chemotherapy for abdominal desmoid tumor in a patient with Gardner's syndrome. " 03/01/1994 - "Two patients with Gardner's syndrome were placed on a chemotherapy regimen which included doxorubicin (90 mg/m2) and dacarbazine (900 mg/m2) in divided doses over four days of continuous infusion. "