The Experts below are selected from a list of 1335 Experts worldwide ranked by ideXlab platform
William D Foulkes - One of the best experts on this subject based on the ideXlab platform.
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familial adenomatous polyposis
The American Journal of Gastroenterology, 2006Co-Authors: Polymnia Galiatsatos, William D FoulkesAbstract:Familial adenomatous polyposis (FAP) is an autosomal-dominant colorectal cancer Syndrome, caused by a germline mutation in the adenomatous polyposis coli (APC) gene, on chromosome 5q21. It is characterized by hundreds of adenomatous colorectal polyps, with an almost inevitable progression to colorectal cancer at an average age of 35 to 40 yr. Associated features include upper gastrointestinal tract polyps, congenital hypertrophy of the retinal pigment epithelium, desmoid tumors, and other extracolonic malignancies. Gardner Syndrome is more of a historical subdivision of FAP, characterized by osteomas, dental anomalies, epidermal cysts, and soft tissue tumors. Other specified variants include Turcot Syndrome (associated with central nervous system malignancies) and hereditary desmoid disease. Several genotype-phenotype correlations have been observed. Attenuated FAP is a phenotypically distinct entity, presenting with fewer than 100 adenomas. Multiple colorectal adenomas can also be caused by mutations in the human MutY homologue (MYH) gene, in an autosomal recessive condition referred to as MYH associated polyposis (MAP). Endoscopic screening of FAP probands and relatives is advocated as early as the ages of 10-12 yr, with the objective of reducing the occurrence of colorectal cancer. Colectomy remains the optimal prophylactic treatment, while the choice of procedure (subtotal vs proctocolectomy) is still controversial. Along with identifying better chemopreventive agents, optimizing screening of extracolonic cancers and applying new radiological and endoscopic technology to the diagnosis and management of extracolonic features are the major challenges for the future.
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a tale of four Syndromes familial adenomatous polyposis Gardner Syndrome attenuated apc and turcot Syndrome
QJM: An International Journal of Medicine, 1995Co-Authors: William D FoulkesAbstract:Familial adenomatous polyposis (FAP), Gardner Syndrome (polyposis, osteomas and epitheliomas), flat adenoma Syndrome (attenuated APC) and Turcot Syndrome (colorectal polyposis with brain tumours) are distinctive clinical Syndromes. Each is caused by mutations in the adenomatous polyposis coli (APC) gene on chromosome 5q21, although Turcot Syndrome may have other causes. A variety of APC mutations are recognized, which can be associated with the character and severity of the clinical Syndromes.
Ciaran Bolger - One of the best experts on this subject based on the ideXlab platform.
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primary cerebellopontine angle craniopharyngioma in a patient with Gardner Syndrome case report and review of the literature
Journal of Neurosurgery, 2006Co-Authors: Kristian Aquilina, Donncha F Obrien, Michael A Farrell, Ciaran BolgerAbstract:The authors report on the case of a craniopharyngioma arising in the cerebellopontine angle (CPA) in a patient with Gardner Syndrome. Although familial adenomatous polyposis (FAP) is associated with intracranial neoplasms, the current case is only the third reported craniopharyngioma in a patient with Gardner Syndrome. Two of these tumors, including that of the current case, originated in the CPA, an unusual location for craniopharyngiomas. The literature concerning FAP and its associations with intracranial neoplasia, as well as the pathogenesis of craniopharyngiomas in the posterior fossa, is discussed.
Ulf Kristoffersson - One of the best experts on this subject based on the ideXlab platform.
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novel germline apc mutations in swedish patients with familial adenomatous polyposis and Gardner Syndrome
Scandinavian Journal of Gastroenterology, 2000Co-Authors: Mef Nilbert, Josefin Fernebro, Ulf KristofferssonAbstract:Background: Familial adenomatous polyposis (FAP) is a familial cancer Syndrome in which affected individuals develop multiple adenomatous polyps and are thereby at greatly increased risk of developing colorectal cancer. Gardner Syndrome is a variant of FAP, in which the patients also develop extraintestinal tumors, in particular osteomas and desmoid tumors. An attenuated form of the disease (AFAP) is associated with fewer polyps, but still a high risk for colorectal cancer. Germline mutations in the adenomatosis polyposis coli (APC) gene cause FAP and Gardner Syndrome and have recently been associated also with the development of AFAP. Methods: We have analysed the entire APC gene for germline mutations in 7 patients with FAP and in 6 patients with suspected AFAP. Mutation screening was performed by direct sequencing of exons 1-14 and using the protein truncation test for analysis of exon 15. Results: Novel disease-causing germline mutations, all of which resulted in truncation of the APC protein, were id...
Caterina Giannini - One of the best experts on this subject based on the ideXlab platform.
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isolated giant cerebellopontine angle craniopharyngioma in a patient with Gardner Syndrome case report
Neurosurgery, 2002Co-Authors: Michael J Link, Colin L W Driscoll, Caterina GianniniAbstract:OBJECTIVE AND IMPORTANCE: We report the case of a 29-year-old man with Gardner Syndrome and an isolated, giant cerebellopontine angle craniopharyngioma. Our description of this patient is only the second case report of a craniopharyngioma arising primarily in the cerebellopontine angle. Clinical presentation: The patient presented with a 1-year history of progressive neurological impaitment and headache. On the basis of the patient's history of multiple dermal fibromas, a cranial osteoma, familail adenomatous polyposis (FAP), a total abdominal colectomy, and an adenomua of the ampulla of Vater, we diagnosed the patient's condition as Gardner Syndrome. Intervention: Magnetic resonance imaging showed a large cerebellopontine angle tumor, which was removed through a suboccipital retromastoid craniotomy. The pathological features were those of an adamantinomatous craniopharyngioma. The patient has done weel postoperatively and has no new neurological deficits. A careful retrospective review of the preoperative imaging shows that this tumor was located exclusively in the posterior fossa and was not an extension of a sellar, suprasellar, or clival craniopharyngioma. Conclusion: We present the second reported case of FAP and craniopharyngioma. There is no known genetic link between FAP and craniopharyngioma. Now that the patient has manifested a primary tumor of the central nervous system with FAB, it is unclear wheter he should be classified as having Turcot Syndrome. For this patient, we recommended vigilant follow-up imaging and forgoing external beam radiotherapy unless there is a documented recurrence of his craniopharyngioma.
Kristian Aquilina - One of the best experts on this subject based on the ideXlab platform.
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primary cerebellopontine angle craniopharyngioma in a patient with Gardner Syndrome case report and review of the literature
Journal of Neurosurgery, 2006Co-Authors: Kristian Aquilina, Donncha F Obrien, Michael A Farrell, Ciaran BolgerAbstract:The authors report on the case of a craniopharyngioma arising in the cerebellopontine angle (CPA) in a patient with Gardner Syndrome. Although familial adenomatous polyposis (FAP) is associated with intracranial neoplasms, the current case is only the third reported craniopharyngioma in a patient with Gardner Syndrome. Two of these tumors, including that of the current case, originated in the CPA, an unusual location for craniopharyngiomas. The literature concerning FAP and its associations with intracranial neoplasia, as well as the pathogenesis of craniopharyngiomas in the posterior fossa, is discussed.
