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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.
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.
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. 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
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.
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
Familial adenomatous polyposis
Elizabeth Half, Dani Bercovich, Paul Rozen
Orphanet Journal of Rare Diseases , 2009, DOI: 10.1186/1750-1172-4-22
Abstract: Familial adenomatous polyposis (FAP)Familial polyposis coliAttenuated FAP is a milder form of FAPGardner's syndrome is a clinical variant of FAP where the extra-colonic features are prominentTurcot syndrome refers to FAP and having a medulloblastoma brain tumorFAP is an autosomal dominant disease that is classically characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life. Almost all patients will develop colorectal cancer (CRC) if they are not identified and treated at an early stage. However, today it is unusual for patients to present with CRC as the majority of patients are diagnosed before cancer develops.Attenuated FAP is a milder form that is characterized by fewer adenomas, a later age of adenoma development and cancer diagnosis.Worldwide, CRC is a major cause of cancer associated morbidity and mortality. Its incidence varies considerably among different populations with the highest incidence reported from Western and industrialized countries. Worldwide, about 85% of CRCs are considered to be sporadic, while approximately 15% are familial with FAP accounting for less than 1% (Fig. 1). However, FAP is one of the best known and understood genetic diseases.In many countries there are local FAP registries; however it is difficult to obtain accurate nation-wide data. In the UK, Reed and Neel presented a detailed genetic study in 1955 and calculated the incidence of FAP at birth to be 1:8,300 [1]. In 1975, Alm presented an incidence rate of 1:7,645 in Sweden [2]. These estimates were based on clinical criteria before the availability of mutation analysis and recognition of all the clinical variants and differential diagnoses. In 2009, the European Medicines Agency (EMEA) estimated that FAP affected approximately 3-10/100,000 people in the European Union which is equivalent to 11,300 - 37,600 individuals [3]. Clinically, FAP manifests equally in both sexes by the late teens and in the twenties ag
Hepatocellular adenoma associated with familial adenomatous polyposis coli  [cached]
Keisuke Inaba,Takanori Sakaguchi,Kiyotaka Kurachi,Hiroki Mori
World Journal of Hepatology , 2012, DOI: 10.4254/wjh.v4.i11.322
Abstract: Hepatocellular adenoma (HCA) is a benign liver tumor that most frequently occurs in young women using oral contraceptives. We report a rare case of HCA in a 29 years old female with familial adenomatous polyposis (FAP). The first proband was her sister, who underwent a total colectomy and was genetically diagnosed as FAP. A tumor, 3.0 cm in diameter, was detected in the right lobe of the liver during a screening study for FAP. A colonoscopy and gastroendoscopy revealed numerous adenomatous polyps without carcinoma. The patient underwent a total colectomy and ileo-anal anastomosis and hepatic posterior sectoriectomy. The pathological findings of the liver tumor were compatible with HCA. The resected specimen of the colon revealed multiple colonic adenomatous polyps. Examination of genetic alteration revealed a germ-line mutation of the adenomatous polyposis coli (APC) gene. Inactivation of the second APC allele was not found. Other genetic alterations in the hepatocyte nuclear factor 1 alpha and β-catenin gene, which are reported to be associated with HCA, were not detected. Although FAP is reported to be complicated with various neoplasias in extracolic organs, only six cases of HCA associated with FAP, including the present case, have been reported. Additional reports will establish the precise mechanisms of HCA development in FAP patients.
Total Colectomy with Mucosectomy and Ileal Pouch-Anal Anastomosis in Patients with Familial Adenomatous Polyposis  [cached]
S. Baratsis, D. Manganas, S.Germanos, P. Alepas, G. Dimogerontas, E. Niakas
Annals of Gastroenterology , 2007,
Abstract: SUMMARY Purpose: The aim of this study was to present our experience in the treatment of patients with familial adenomatous polyposis (FAP) and their families. Materials and methods: The material comprises 36 patients with FAP who had undergone prophylactic colorectal surgery, including those operated on because of colorectal cancer (CRC). Anal continence preserving surgery was performed on 34 patients: 30 had ileal-pouch anal anastomosis as primary surgery, 4 had ileal-pouch anal anastomosis as secondary operation after ileorectal anastomosis. Total proctocolectomy was performed on 2 patients with FAP and rectal cancer. Two patients with desmoid tumours were detected. Surgical outcome was assessed on the basis of hospital records. A questionnaire was used to evaluate the postoperative functional outcome. Finally, most family members had blood samples taken for detection of mutation of the APC gene. Results: The histology of the specimen retrieved from these patients showed in four a malignant tumour which had not been suspected preoperatively: two rectal adenocarcinomas (one in the ileorectal group), and two carcinomas in situ. One of these patients accepted the option for pouch excision and permanent ileostomy but the other refused. Surgical outcome was very good, without any major early or late postoperative complications. Fuctional results after ilealpouch anal anastomosis are satisfactory. All pouches are in place and functional. Conclusions: Preventive surgery is indicated in patients with FAP. Total colectomy, anal mucosectomy and ileal-pouch anal anastomosis, when possible, is preferred over ileorectal anastomosis or total colectomy with permanent ileostomy. The coexixtence of cancer, the age of the patient, the development of desmoid tumours or extracolonic neoplastic tumours are factors that influence the choice of the operation and the outcome. Key words: Familial adenomatous polyposis; ileal pouch-anal anastomosis;adenomas; colorectal cancer; desmoid tumours
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