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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.
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.
Desmoid tumor in patients with familial adenomatous polyposis
Leal, Raquel Franco;Silva, Patricia V. V. Tapia;Ayrizono, Maria de Lourdes Setsuko;Fagundes, Jo?o José;Amstalden, Eliane M. Ingrid;Coy, Cláudio Saddy Rodrigues;
Arquivos de Gastroenterologia , 2010, DOI: 10.1590/S0004-28032010000400010
Abstract: context: desmoid tumors constitute one of the most important extraintestinal manifestations of familial adenomatous polyposis. the development of desmoids is responsible for increasing morbidity and mortality rates in cases of familial adenomatous polyposis. objectives: to evaluate the occurrence of desmoid tumors in familial adenomatous polyposis cases following prophylactic colectomy and to present patient outcome. methods: between 1984 and 2008, 68 patients underwent colectomy for familial adenomatous polyposis at the school of medical sciences teaching hospital, university of campinas, sp, brazil. desmoid tumors were found in nine (13.2%) of these patients, who were studied retrospectively by consulting their medical charts with respect to clinical and surgical data. results: of nine patients, seven (77.8%) were submitted to laparotomy for tumor resection. median age at the time of surgery was 33.9 years (range 22-51 years). desmoid tumors were found in the abdominal wall in 3/9 cases (33.3%) and in an intra-abdominal site in the remaining six cases (66.7%). median time elapsed between ileal pouch-anal anastomosis and diagnosis of desmoid tumor was 37.5 months (range 14-60 months), while the median time between colectomy with ileorectal anastomosis and diagnosis was 63.7 months (range 25-116 months). in 6/9 (66.7%) patients with desmoid tumors, the disease was either under control or there was no evidence of tumor recurrence at a follow-up visit made a mean of 63.1 months later (range 12-240 months). conclusions: desmoid tumors were found in 13.2% of cases of familial adenomatous polyposis following colectomy; therefore, familial adenomatous polyposis patients should be followed-up and surveillance should include abdominal examination to detect signs and symptoms. treatment options include surgery and clinical management with antiestrogens, antiinflammatory drugs or chemotherapy.
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.
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.
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
Prevention and Management of Periampullary Tumors in Familial Adenomatous Polyposis
Naoki Hashimoto
Open Access Library Journal (OALib Journal) , 2016, DOI: 10.4236/oalib.1102338
Abstract: Familial adenomatosis polyposis (FAP) is one of two well described forms of hereditary colorectal cancer. The primary cause of death from this symdrome is colorectal caner which develops usually by the fifth decade of life. The overall survival of FAP was significantly improved by screening by genetic testing and endoscopy with prophylactic surgery. Almost all patients with FAP develop duodenal polyposis most of which occurs in periampullary. The second leading cause of death in FAP is duodenal adenocarcinoma. Between 5% and 10% of FAP patients die from duodenal cancer, usually periampullary in origin. Therefore, I will discuss the clinicopathological features, management and prevention of duodenal neoplasma in patients with FAP.
Age and manifestation related symptoms in familial adenomatous polyposis
Roland S Croner, Wolfgang M Brueckl, Bertram Reingruber, Werner Hohenberger, Klaus Guenther
BMC Cancer , 2005, DOI: 10.1186/1471-2407-5-24
Abstract: We undertook a retrospective study of 143 FAP patients treated at the Department of Surgery, University of Erlangen between 1971 and 2000. We identified patterns of symptoms, endoscopic findings and extracolonic manifestations in three age groups.FAP was diagnosed clinically on the basis of symptoms in 84% (120/143) of these patients. Most presented with intestinal symptoms such as colonic bleeding (68%) and diarrhea (42%). All but one of the patients between 20 and 40 years old had rectal polyps (98.7%, 75/76), whereas in those over 40 years old the prevalence was 76% (35/46). Non-specific symptoms such as abdominal pain, fatigue and bloating were less frequent and were mainly reported by patients older than 40.The commonest presenting features of FAP are alteration of bowel habit and rectal bleeding, but both are found in many other conditions. Patients with these findings need immediate endoscopy to allow prompt diagnosis and prophylactic surgery.Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disease and is caused by germline mutations in the adenomatous polyposis coli gene (APC) in chromosome 5q21 [1]. Somatic mutations of the APC gene occur in about 80% of sporadic colorectal cancers. APC encodes for a multimodal protein that plays an important role in the wnt-signalling pathway and in intercellular adhesion [2,3]. The APC germline mutation has a penetrance which is close to 100% [4]. Untreated, the disease usually leads to the appearance of hundreds of adenomatous polyps in the colorectum between puberty and age 20 and to cancer by the early forties at the latest which is the most frequent reason for death in patients with FAP [5]. Attenuated forms of FAP (AFAP) are variations in phenotype. AFAP with less than 100 adenomatous polyps is diagnosed at a mean age of 44 years, and cancer is diagnosed at a mean age of 56 years [6]. Congenital hypertrophy of retinal pigment epithelium, upper gastrointestinal polyps, desmoid tumors, adrenal
Desmoid tumors of the abdominal wall: A case report
Marcus Overhaus, Pan Decker, Hans Peter Fischer, Hans Jochen Textor, Andreas Hirner
World Journal of Surgical Oncology , 2003, DOI: 10.1186/1477-7819-1-11
Abstract: We report on two female patients with desmoid tumor of the abdominal wall who underwent primary resection. Both patients had a history of an earlier abdominal surgery. Preoperative evaluation included abdominal ultrasound, magnetic resonance imaging and computed tomography. The histology in both cases revealed a desmoid tumor.Complete surgical resection is the first line management of this tumor entity.Desmoid tumors are benign myofibroblastic neoplasms originating from the muscle aponeurosis and classified as deep fibromatoses [1]. They constitute 3% of all soft tissue tumors and 0.03% of all neoplasms [2]. Despite their aggressive local infiltration, desmoid tumors lack a metastatic potential [3]. However, because of this local infiltration and compression of surrounding structures, a high recurrence rate exists and in anatomic locations with restricted access to surgical resection desmoid tumors can lead to death [4]. Especially in patients with familial adenomatous polyposis (FAP) undergoing colectomy desmoid tumors are the leading cause of morbidity and mortality [5].Molecular studies demonstrated desmoid tumors in FAP as clonal neoplasms arising from germline mutation or changes in the APC alleles [6-8]. Cytogenic data verified clonal chromosome aberrations in deep-seated sporadic extra-abdominal fibromatoses and lesions of the abdominal wall and therefore provide additional evidence for the neoplastic nature of these lesions [9].Main locations of desmoid tumor occurrence are the proximal extremities, the abdominal wall and the mesenteric intestine in patients with FAP [10]. In sporadic cases, they occur in localisations of trauma, and scars or irradiation. The therapeutic management of these tumors is still controversial.A 28-year-old female recognized a left lower abdominal wall tumor. In her history she reported an appendectomy and two pregnancies with spontaneous birth in 1994 and 1999. On clinical admission, a painless tumor was investigated without any c
Comparison between Capsule Endoscopy and Magnetic Resonance Enterography for the Detection of Polyps of the Small Intestine in Patients with Familial Adenomatous Polyposis
E. Akin,A. Demirezer Bolat,S. Buyukasik,O. Algin,E. Selvi,O. Ersoy
Gastroenterology Research and Practice , 2012, DOI: 10.1155/2012/215028
Abstract: Objective. The objective of this study was to assess the utility of magnetic resonance enterography (MRE) compared with capsule endoscopy (CE) for the detection of small-bowel polyps in patients with familial adenomatous polyposis (FAP). Methods. Patients underwent MRE and CE. The polyps were classified according to size of polyp: <5 mm (small size), 5–10 mm (medium size), or >10 mm (large size). The location (jejunum or ileum) and the number of polyps (1–5, 6–20, >20) detected by CE were also assessed. MRE findings were compared with the results of CE. Results. Small-bowel polyps, were detected by CE in 4 of the 6 (66%) patients. Three patients had small-sized polyps and one patient had medium-sized polyps. CE detected polyps in four patients that, were not shown on MRE. Desmoid tumors were detected on anterior abdominal wall by MRE. Conclusion. In patients with FAP, CE can detect small-sized polyps in the small intestine not seen with MRE whereas MRE yields additional extraintestinal information.
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