Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033036 (APC)
 10,214 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Familial adenomatous polyposis (PAF) associated to soft tissue tumors or osteomas constitutes the Gardner's syndrome of autosomal dominant inheritance. The risk of colorectal cancer in these patients is 100%. We present a patient with Gardner's syndrome who was had colectomy at early age. An eleven years old boy he was evaluated due to a family history of PAF and subcutaneous tumors (occipital and left thigh). Genetic profile shows a mutation in gene APC and the colonoscopy confirms the polyposis; the biopsy also suggested moderate dysplasia. When the patient reached the age of twelve, a total colectomy with colorectal mucosectomy was performed. Cystic subcutaneous lesions (epidermoid cysts) were also excised. In the postoperative period there were no complications. The prophylactic colectomy, is the only effective treatment to prevent the colorectal cancer. Gardner's syndrome patients requires periodic controls to rule out the appearance of new tumors or anomalies in the retine. The duodenoscopy is essential in the follow up of these patients because of the frequency of duodenal affectation.
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PMID:[Familial adenomatous polyposis: Gardner's syndrome]. 1684 35

Familial adenomatous polyposis (FAP) is an inherited condition causing numerous adenomatous colorectal polyps and a markedly elevated risk of colon cancer. FAP may be associated with various extracolonic manifestations such as desmoid fibromatosis and osteomas (termed Gardner's syndrome) and brain tumors, usually medulloblastoma or glioma [termed Brain Tumor Polyposis (BTP) syndrome type 2]. We describe a pediatric patient who initially presented with prolactinoma and later was found to have Gardner's syndrome. A germline mutation of the APC (adenomatous polyposis coli) gene was identified. Our case illustrates the association between prolactinoma and FAP, which may represent a rare subtype of Gardner's and BTP syndromes.
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PMID:Prolactinoma as the first manifestation of Gardner's syndrome. 1686 50

Gardner's syndrome is a rare variant of the Familial Adenomatous Polyposis (FAP) in which affected individuals develop thousands of polyps within the gastrointestinal tract, with a 100 % risk of eventual malignant change. They also have a variety of extraintestinal abnormalities - various soft and hard tissues tumors like fibroma, osteoma, epidermoid cysts, sebaceous cysts on the scalp. Gardner's syndrome is an autosomal dominant disease, caused by mutations in APC ( adenomatous polyposis coli ) gene, which is located in chromosomal locus 5q21- q22. Firstly it has been described in 1953 by Gardner and Richards. They have investigated a family of 51 members with polyposis, some of them with multiple epidermoid cysts, fibromas and jaw osteomas. Eight of them have died by colorectal carcinoma. If undetected or untreated virtually all patients develop colonic carcinoma at a young age. Due to this high risk of malignancy the patients with Gardner's syndrome usually undergo surgical treatment by total or subtotal proctocolectomy. We report a case with Gardner's syndrome - a 36 year-old male who has been operated on in Department of Surgery in Vth city clinical hospital in October 2003. He had multiple adenomatous polyposis of colon, rectal cancer, osteomas of skull bones, subcutaneous fibromas and lipomas. We discovered also by ultrasound examination a polyp of gall bladder. His father has had also multiple polyposis with malignancy and metastatic lesions and he has died at age of 49 years. We performed total proctocolectomy with definitive iliac anus and cholecystectomy.
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PMID:[A rare case of Gardner's syndrome complicated with rectal carcinoma]. 1843 13

We report a case of somatic APC mosaicism in an person with a clinical diagnosis of Gardner syndrome with features of attenuated polyposis coli and with an uninformative family history. In initial screening for APC mutations, the germline mutation E1573X was detected in a lower proportion than that predicted by a heterozygous mutation indicating the presence of somatic mosaicism. Pyrosequencing confirmed this hypothesis and quantified the presence of the mutation in approximately 18% of the blood lymphocytes. Mutational analysis performed in the offspring revealed a fully heterozygous E1573X mutation in 2 of the 3 individuals tested. The milder colonic phenotype exhibited by the index patient could be a consequence of the presence of the mosaicism in the colon mucosa. The detection of the mutation in other tissues and in the offspring suggests that it may have occurred early during embryogenesis, before the separation of the embryonic layers. The E1573X mutation is the most distal mutation in the APC sequence reported to date as a mosaic and, interestingly, in the context of Gardner syndrome with extensive extracolonic features. Mosaicism is an important consequence of de novo APC mutations and it should be considered in the management of apparently sporadic or de novo cases, particularly in the evaluation of the risk of siblings and offspring.
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PMID:APC somatic mosaicism in a patient with Gardner syndrome carrying the E1573X mutation: report of a case. 1961 69

Gardner fibroma represents a rare and recently described soft tissue tumor entity in children and young adults. It consists of haphazardly arranged coarse and hyalinized collagen fibers combined with loosely arranged bland spindle and fibroblastic cells. The case of a 13-year-old male patient with Gardner fibroma and osteoma and multicentric desmoid type fibromatosis in his mother is presented with detection of a (heterozygotic) germline mutation of the APC gene leading to a de novo stop codon (deletion of base pairs 5033-5036). FISH analysis revealed a structural loss of heterozygosity (LOH) in the APC gene on chromosomal locus 5q21 in one out of five analysed desmoids of the mother, no LOH of APC gene in the Gardner fibroma. Gardner fibroma in children and young adults may serve as an indicator lesion for familial adenomatous polyposis (FAP), Gardner syndrome, a familial desmoid type fibromatosis without other manifestations of APC or a new APC gene mutation. For the clinician, this diagnosis should be commented upon accordingly by the surgical pathologist. As the result of a detected APC gene mutation, continuous follow-up for the development of colorectal tumors and desmoid type fibromatosis as well as a familial screening for FAP is recommended.
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PMID:[Gardner fibroma: case report and discussion of a new soft tissue tumor entity]. 2006

Desmoid tumors are fibroblastic/myofibroblastic proliferations. Previous studies reported that CTNNB1 mutations were detected in 84% and that mutations of the APC gene were found in several cases of sporadic desmoid tumors lacking CTNNB1 mutations. Forty tumors were analyzed by comparative genomic hybridization (CGH). Karyotype and fluorescence in situ hybridization revealed a nonrandom occurrence of trisomy 8 associated with an increased risk of recurrence. We report the first molecular characterization including a large series of patients. We performed array CGH on frozen samples of 194 tumors, and we screened for APC mutations in patients without CNNTB1 mutation. A high frequency of genomically normal tumors was observed. Four relevant and recurrent alterations (loss of 6q, loss of 5q, gain of 20q, and gain of Chromosome 8) were found in 40 out of 46 tumors with chromosomal changes. Gain of Chromosomes 8 and 20 was not associated with an increased risk of recurrence. Cases with loss of 5q had a minimal common region in 5q22.5 including the APC locus. Alterations of APC, including loss of the entire locus, and CTNNB1 mutation could explain the tumorigenesis in 89% of sporadic desmoids tumors and desmoids tumors occurring in the context of Gardner's syndrome. A better understanding of the pathogenetic pathways in the initiation and progression of desmoid tumors requires studies of 8q and 20q gains, as well as of 6q and 5q losses, and study of the Wnt/beta-catenin pathway.
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PMID:Molecular characterization by array comparative genomic hybridization and DNA sequencing of 194 desmoid tumors. 2023 83

Turcot's syndrome is a rare clinical syndrome, characterized by the association between familial adenomatous polyposis (FAP) and a primary central nervous system tumour. Gardner's syndrome is characterized by the association between FAP and several tumour types such as multiple osteomas, fibromas, epidermoid cysts and desmoid tumours. We report here the case of a twenty-six year-old woman with a history of both Turcot's and Gardner syndromes. She had a family history of adenomatous polyposis with a mutation in the APC (Adenomatous Polyposis Coli) gene. At the age of 26, she presented a mucoepidermoid carcinoma of the right parotid gland in which the MECT1-MAML2 fusion was showed. We discuss the possible addition of this latter cancer type in the definition of Gardner's syndrome.
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PMID:Mucoepidermoid carcinoma: A yet unreported cancer associated with familial adenomatous polyposis. 2383 Jul 71

Lynch syndrome, familial adenomatous polyposis, and Mut Y homolog (MYH)-associated polyposis are three major known types of inherited colorectal cancer, which accounts for up to 5% of all colon cancer cases. Lynch syndrome is most frequently caused by mutations in the mismatch repair genes MLH1, MSH2, MSH6, and PMS2 and is inherited in an autosomal dominant manner. Familial adenomatous polyposis is manifested as colonic polyposis caused by mutations in the APC gene and is also inherited in an autosomal dominant manner. Finally, MYH-associated polyposis is caused by mutations in the MUTYH gene and is inherited in an autosomal recessive manner but may or may not be associated with polyps. There are variants of both familial adenomatous polyposis (Gardner syndrome--with extracolonic features--and Turcot syndrome, which features medulloblastoma) and Lynch syndrome (Muir-Torre syndrome features sebaceous skin carcinomas, and Turcot syndrome features glioblastomas). Although a clinical diagnosis of familial adenomatous polyposis can be made using colonoscopy, genetic testing is needed to inform at-risk relatives. Because of the overlapping phenotypes between attenuated familial adenomatous polyposis, MYH-associated polyposis, and Lynch syndrome, genetic testing is needed to distinguish among these conditions. This distinction is important, especially for women with Lynch syndrome, who are at increased risk for gynecological cancers. Clinical testing for these genes has progressed rapidly in the past few years with advances in technologies and the lower cost of reagents, especially for sequencing. To assist clinical laboratories in developing and validating testing for this group of inherited colorectal cancers, the American College of Medical Genetics and Genomics has developed the following technical standards and guidelines. An algorithm for testing is also proposed.
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PMID:ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). 2431 Mar 8

Inheritable colorectal cancers (CRC) accounted for about 20% of the CRC cases, such as hereditary nonpolyposis colorectal cancer (HNPCC), Gardner syndrome and familial adenomatous polyposis (FAP). A four-generation Han Chinese family was found affected with polyposis in colons. Inferred from the pedigree structure, the disease in this family showed an autosomal dominant inheritance model. To locate the causal mutations in this family, genomic DNAs were extracted and the next generation sequencing for 5 genes relating to colon cancer performed by Ion Torrent Personal Genome Machine with a 314 chip. The reads were aligned with human reference genome hg19 to call variants in the 5 genes. After analysis, 14 variants were detected in the sequenced sample and 13 been collected in dbSNP database and assigned with a rs identification number. In these variants, 9 were synonymous, 4 missense and 1 non-sense. In them, 2 rare variants (c.694C>T in APC and c.1690A>G in MSH2) might be the putative causal mutations for familial adenomatous polyposis (FAP) since the rarity of the mutated allele in normal controls. c.694C>T was detected in only affected members and generated a premature stop codon in APC. It should be a de novo germline mutation making APC containing this stop codon as targets for nonsense-mediated mRNA decay (NMD). c.1690A>G in MSH2 was not only detected in affected members, but also in normal ones in the family. Functional prediction revealed that the amino acid affected by this variant had no effect on the function of MSH2. Here, we report a de novo germline mutation of APC as the causal variant in a Chinese family with inheritable colon cancer by the next generation sequencing.
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PMID:A de novo germline mutation of APC for inheritable colon cancer in a Chinese family using multigene next generation sequencing. 2473 42

Aggressive fibromatosis (AF) is a benign non-encapsulated tumor of mesenchymal origin, with a tendency for local spread along fascial planes. Local invasion can lead to extensive morbidity and even mortality due to destruction of the bones, organs and soft tissues. This rare lesion is observed 1,000 times more frequently in patients with familial adenomatous polyposis or Gardner's syndrome due to the inheritance of the adenomatous polyposis coli (APC) gene. While AF does not metastasize, local recurrence is common. Distant recurrence is extremely rare, but is observed in those with a germ line APC mutation. The present study details the case of a 20-year-old woman with a melanoma of the right shoulder, treated definitively with surgery. The patient then developed a painful mass at the surgical site; a surgical biopsy demonstrated that the mass was AF. The patient was treated with surgical resection, radiation therapy, and a course of tamoxifen. Five years later, the patient presented with left forearm pain and diminished range of motion due to an infiltrating mass. This was excised and a clinical diagnosis of recurrent AF was made, in this patient lacking familial predisposition to the disease.
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PMID:Contralateral recurrence of aggressive fibromatosis in a young woman: A case report and review of the literature. 2617 Oct 24


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