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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.
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.
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
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.
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
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
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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