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Desmoid Tumor Associated With Familial Adenomatous Polyposis: Evaluation With 64-Detector CT Enterography  [cached]
Oktay Algin,Sehnaz Evrimler,Evrim Ozmen,Melike Metin
Iranian Journal of Radiology , 2012,
Abstract: Desmoid tumors (DTs) are benign tumors which are not seen very often, and most of the radiologists and clinicians do not know the characteristics of them very well. Correct and early diagnosis of DTs is important for decreasing mortality and morbidity. Computed tomography enterography (CTE) is a new modality for small bowel imaging which combines the improved spatial and temporal resolution of multidetector computed tomography (CT) with large volumes of ingested enteric contrast material to permit evaluation of the small bowel wall and lumen and also the entire abdomen. We report a familial adenomatous polyposis (FAP) patient with localized mesentery and abdominal wall DTs. We showed the exact location of the DTs and their relation with the small bowel by CTE. In conclusion, CTE is a useful technique for DT localization, the degree of extension and invasion to local structures, presence of partial and complete small bowel obstruction, and the relationship of the tumors with vasculature and whether ischemia ha s occurred as a result or not.
Post Surgical Desmoid Tumors in Familial Adenomatous Polyposis: A Case Report
M. Sanei Taheri,Sh. Birang,V. Nahvi
Iranian Journal of Radiology , 2006,
Abstract: Literature review indicates that desmoid tu mors are exceedingly common in familial adenomatous polyposis (FAP), where the comparative risk is 852 times that of the general population. Prior abdominal surgery has been found in as many as 68 % of FAP patients with abdominal desmoid. Fifty-five percent develop these lesions within 5 years of surgery. We de-scribe a 45-year-old pa tient with Gardner's syndrome complicated by a desmoid tumor 2 years after he had a prophy lactic colectomy.
Extra-Abdominal Desmoid Tumors Associated with Familial Adenomatous Polyposis  [PDF]
George T. Calvert,Michael J. Monument,Randall W. Burt,Kevin B. Jones,R. Lor Randall
Sarcoma , 2012, DOI: 10.1155/2012/726537
Abstract: Extra-abdominal desmoid tumors are a significant cause of morbidity in patients with familial adenomatous polyposis syndrome. Understanding of the basic biology and natural history of these tumors has increased substantially over the past decade. Accordingly, medical and surgical management of desmoid tumors has also evolved. This paper analyzes recent evidence pertaining to the epidemiology, molecular biology, histopathology, screening, and treatment of extra-abdominal desmoid tumors associated with familial adenomatous polyposis syndrome.
Multiple desmoid tumors in a patient with familial adenomatous polyposis caused by the novel W421X mutation Tumor desmoide múltiple en un paciente con poliposis adenomatosa familiar originada por la nueva mutación W421X  [cached]
Orestis Ioannidis,George Paraskevas,Stavros Chatzopoulos,Anastasios Kotronis
Revista Espa?ola de Enfermedades Digestivas , 2012,
Abstract: Familial adenomatous polyposis (FAP) is a rare syndrome characterized by the presence of hundreds to thousands of colorectal adenomas and is responsible for less than 1% of all colorectal cancers. The syndrome is also characterized by extra-colorectal features including amongst others upper gastrointestinal tract polyps and desmoid tumors. The syndrome is inherited by an autosomal dominant gene, the adenomatous polyposis coli (APC) gene. We present the physical history, clinical presentation, diagnosis and treatment of a patient with a novel germline APC mutation, the W421X mutation, which resulted in FAP presenting with about a hundred colorectal polyps, gastric hyperplastic polyps and multiple aggressive intra-abdominal and extra-abdominal desmoid tumors.
Extra-Abdominal Desmoid Tumors Associated with Familial Adenomatous Polyposis  [PDF]
George T. Calvert,Michael J. Monument,Randall W. Burt,Kevin B. Jones,R. Lor Randall
Sarcoma , 2012, DOI: 10.1155/2012/726537
Abstract: Extra-abdominal desmoid tumors are a significant cause of morbidity in patients with familial adenomatous polyposis syndrome. Understanding of the basic biology and natural history of these tumors has increased substantially over the past decade. Accordingly, medical and surgical management of desmoid tumors has also evolved. This paper analyzes recent evidence pertaining to the epidemiology, molecular biology, histopathology, screening, and treatment of extra-abdominal desmoid tumors associated with familial adenomatous polyposis syndrome. 1. Introduction Desmoid tumors (DTs), also known as aggressive fibromatosis, are fibroblastic neoplasms which are often locally aggressive but lack metastatic potential. They may occur sporadically or in association with familial adenomatous polyposis (FAP) syndrome. Among individuals with FAP, desmoids most frequently occur in intra-abdominal and abdominal wall locations with most arising from the peritoneum. These abdominal desmoids range in severity from indolent, asymptomatic lesions to highly invasive, sometimes fatal tumors. Although less common than abdominal desmoids and very rarely fatal, extra-abdominal desmoids are also a significant cause of morbidity in this population. This paper will review recent developments in the diagnosis, screening, treatment, and prognosis of FAP-associated extra-abdominal DTs. 2. Epidemiology of FAP-Associated Desmoid Tumors The overall incidence of DTs has frequently been quoted at 2–4 per million people per year [1, 2]. This estimate is derived from a 1986 Finnish study which used the pathologic records of several regional hospitals and their known catchment area populations to calculate an incidence figure [3]. Recently, the Dutch national pathology database was analyzed, and 519 total desmoid cases in patients over the age of ten were identified from 1999 to 2009. There were 480 sporadic DTs and 39 FAP-DTs. The annual incidence was 3.7 per million overall [4] consistent with the earlier Finnish study. The same nationwide study from The Netherlands identified 1400 patients over the age of ten with FAP during the 1999 to 2009 period. FAP-associated DTs (FAP-DTs) made up 7.5% of all DTs, and the relative risk of an FAP patient developing a DT was over 800-fold higher than the general population [4]. The Dutch study was limited by the use of pathologic specimens as many DTs may be identified based upon history, physical exam, and imaging but not biopsied or surgically excised especially in the FAP cohort. Additionally, some individuals with sporadic DTs may have had as yet
Gene Expression Profiling in Familial Adenomatous Polyposis Adenomas and Desmoid Disease
Nikola A Bowden, Amanda Croft, Rodney J Scott
Hereditary Cancer in Clinical Practice , 2007, DOI: 10.1186/1897-4287-5-2-79
Abstract: Familial adenomatous polyposis (FAP) is a rare form of colorectal cancer caused by germline mutations in the adenomatous polyposis coli (APC) gene. Approximately 70–90% of FAP patients have identifiable germline mutations in APC [1,2]. FAP is clinically characterized by the formation of hundreds to thousands of adenomas that carpet the entire colon and rectum [3]. Although initially benign the risk of malignant transformation increases with age such that, if left untreated, colorectal carcinoma usually develops before the age of 40 years [4].Loss of APC results in dysregulation of the Wnt signalling pathway that leads to the constitutional activation of the transcription factor Tcf-4, which has been associated with adenoma formation [5]. Alterations in Wnt signalling cause stem cells to retain their ability to divide in the upper intestinal crypt, thereby forming monocryptal adenomas [6]. Eventually the adenomas may acquire metastatic potential, resulting in carcinoma development [7]. Not all adenomas will progress to malignant tumours; however, due to the abundance of adenomas carcinoma development is virtually assured [8].Apart from the apparent loss of APC function, little is known about the molecular processes involved in adenoma initiation [6]. Similarly, the molecular events occurring during the transformation of adenomas into carcinomas are poorly understood, as are the mechanisms that underlie the development of extra-colonic disease in FAP.It is well established that FAP patients are susceptible to benign extra-colonic tumours, including desmoid tumours [3]. Although rare in the general population, desmoids occur in approximately 10% of FAP patients and they are the second most common cause of death [9]. Desmoid tumours are poorly encapsulated and consist of spindle-shaped fibroblast cells with varying quantities of collagen [10]. Despite their apparent inability to metastasize, desmoid tumours can be extremely aggressive [11].It has been speculated that de
Multiple desmoid tumors in a patient with familial adenomatous polyposis caused by the novel W421X mutation
Ioannidis,Orestis; Paraskevas,George; Chatzopoulos,Stavros; Kotronis,Anastasios; Papadimitriou,Nikolaos; Konstantara,Athina; Makrantonakis,Apostolos; Kakoutis,Emmanouil;
Revista Espa?ola de Enfermedades Digestivas , 2012, DOI: 10.4321/S1130-01082012000300009
Abstract: familial adenomatous polyposis (fap) is a rare syndrome characterized by the presence of hundreds to thousands of colorectal adenomas and is responsible for less than 1% of all colorectal cancers. the syndrome is also characterized by extra-colorectal features including amongst others upper gastrointestinal tract polyps and desmoid tumors. the syndrome is inherited by an autosomal dominant gene, the adenomatous polyposis coli (apc) gene. we present the physical history, clinical presentation, diagnosis and treatment of a patient with a novel germline apc mutation, the w421x mutation, which resulted in fap presenting with about a hundred colorectal polyps, gastric hyperplastic polyps and multiple aggressive intra-abdominal and extra-abdominal desmoid tumors.
Tumor desmóide tratado com tamoxifeno: relato de caso
C?rtes, Bruno Juste Werneck;Leite, Sinara M?nica de Oliveira;Campos, Marcos Henrique Rocha;Oliveira, Levindo Alves de;
Revista Brasileira de Coloproctologia , 2006, DOI: 10.1590/S0101-98802006000100008
Abstract: the desmoid tumors are benign tumors arising from fibroaponeurotic tissue. they occur in 4 to 13% patients who present familial adenomatous polyposis. although a benign disease, desmoid tumors are focally invasive. they do not metastasize but can be lethal because of aggressive growth with pressure and erosion causing small bowel obstruction. their tendency to recur (65% to 85%) after removal has encouraged a conservative approach to management. the authors report the case of a patient who presented intra-abdominal desmoid tumor, treated surgically in the hospital governador israel pinheiro - belo horizonte (mg) and discuss the therapeutic options in the literature.
Tumor desmóide da parede abdominal durante a gravidez: relato de caso
Priolli, Denise Gon?alves;Martinez, Carlos Augusto Real;Mazzini, Décio Luiz Silva;Souza, Carlos Alberto Fontes de;Piovesan, Helenice;Nonose, Ronaldo;
Revista Brasileira de Ginecologia e Obstetrícia , 2005, DOI: 10.1590/S0100-72032005000500009
Abstract: desmoid tumors are neoplasms of the conjunctive tissue that are characterized by exclusive locoregional growth, frequent recurrence and minimal metastatic potential. they mainly affect individuals with familial adenomatous polyposis of the colon, and rarely occur isolated. the single form of this neoplasm most frequently appears in women of reproductive age, and during pregnancy. a case of a desmoid tumor of large proportions located in the abdominal wall is described. it appeared at the 17th week of pregnancy in a woman without any history of familial adenomatous polyposis. the neoplasm was totally extirpated, with the use of a polypropylene prosthesis for reconstitution of the abdominal wall. one year after the surgery, the patient continues to be well, while using non-steroidal anti-inflammatory drugs for the prevention of relapses.
Identification of 5 novel germline APC mutations and characterization of clinical phenotypes in Japanese patients with classical and attenuated familial adenomatous polyposis
Hong Tao, Kazuya Shinmura, Hidetaka Yamada, Masato Maekawa, Satoshi Osawa, Yasuhiro Takayanagi, Kazuya Okamoto, Tomohiro Terai, Hiroki Mori, Toshio Nakamura, Haruhiko Sugimura
BMC Research Notes , 2010, DOI: 10.1186/1756-0500-3-305
Abstract: Nine germline APC mutations, but no large deletions, were identified in the APC locus of 8 (A)FAP patients, and 5 of the mutations, c.446A > T (p.Asp149Val), c.448A > T (p.Lys150X), c.454_457insAGAA (p.Glu152ArgfsX17), c.497insA (p.Thr166AsnfsX2), and c.1958G > C (p.Arg653Ser), were novel mutations. In one patient the p.Asp149Val mutation and p.Lys150X mutation were detected in the same APC allele. The c.1958G > C mutation was located in the last nucleotide of exon 14, and RT-PCR analysis revealed that the mutation resulted in abnormal splicing. The above findings meant that a nonsense mutation, a frameshift mutation, or an exonic mutation leading to abnormal splicing was found in every patient. The following phenotypes, especially extracolonic manifestations, were observed in our (A)FAP patients: (1) multiple gastroduodenal adenomas and early-onset gastric carcinoma in AFAP patients with an exon 4 mutation; (2) a desmoid tumor in two FAP patients with a germline APC mutation outside the region between codons 1403 and 1578, which was previously reported to be associated with the development of desmoid tumors in FAP patients; (3) multiple myeloma in an AFAP patient with an exon 4 mutation.Nine germline APC mutations, 5 of them were novel, were identified in 8 Japanese (A)FAP patients, and some associations between germline APC mutations and extracolonic manifestations were demonstrated. These findings should contribute to establishing relationships between germline APC mutations and the extracolonic manifestations of (A)FAP patients in the future.Familial adenomatous polyposis (FAP) is an autosomal dominant familial cancer syndrome characterized by the early onset of large numbers of adenomatous polyps throughout the entire colon and a nearly 100% lifetime risk of colorectal cancer (CRC) if the colon is not removed [1]. A small proportion of familial colorectal polyposis cases were recently found to be associated with biallelic germline mutations of the MutYH gene [2
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