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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
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.
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
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
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.
Depressed-Type Colonic Lesions and “De Novo” Cancer in Familial Adenomatous Polyposis: A Colonoscopist’s Viewpoint  [PDF]
Shin-ei Kudo,Yuusaku Sugihara,Hiroyuki Kida,Fumio Ishida,Hideyuki Miyachi,Yuichi Mori,Masashi Misawa,Tomokazu Hisayuki,Kenta Kodama,Kunihiko Wakamura,Takemasa Hayashi,Yoshiki Wada,Shigeharu Hamatani
ISRN Gastroenterology , 2013, DOI: 10.1155/2013/838134
Abstract: Familial adenomatous polyposis (FAP) is the most common inherited polyposis syndrome. Almost all patients with FAP will develop colorectal cancer if their FAP is not identified and treated at an early stage. Although there are many reports about polypoid lesions and colorectal cancers in FAP patients, little information is available concerning depressed lesions in FAP patients. Several reports suggested that depressed-type lesions are characteristic of FAP and important in the light of their rapid growth and high malignancy. Here, we describe the occurrence of depressed-type lesions in FAP patients treated at our institution. Between April 2001 and March 2010, eight of 18 FAP patients had colorectal cancers. Depressed-type colorectal cancer was found in three patients. It should be kept in mind that depressed-type lesions occur even in FAP. 1. Introduction In 1859, Half et al. [1] first described adenomatous polyposis in a 16-year-old female and a 21-year-old male. Later, familial adenomatous polyposis (FAP) was recognized as the most common inherited polyposis syndrome. FAP 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 FAP patients will develop colorectal cancer if the FAP is not identified and treated at an early stage. Cumulative evidence indicates that, under the umbrella of FAP, classic FAP (cFAP) and attenuated FAP (aFAP) might be very different identities both clinically and molecularly. aFAP is a milder form that is characterized by fewer adenomas and a later age of adenoma development and cancer diagnosis [1]. The genetic basis of FAP is a germline mutation of the adenomatous polyposis coli (APC) gene on chromosome 5 (5q21-q22) [2]. Only about 10%–15% of aFAP cases are secondary to APC. More frequently, in 20%–30% of cases, this condition has been correlated with a biallelic mutation of the MutY human homolog gene (MUTYH) located on chromosome 1 (1p34.3-p32.1). Two mutations account for most of the variations of the MUTYH gene: Y165C (exon7) and G382D (exon13) [3]. It is difficult to obtain accurate nationwide and global data about the incidence of FAP, although there are local FAP registries in many countries. A 1955 report calculated that the incidence of FAP at birth in the UK was 1?:?8,300 [4]. In classic FAP, the optimal surveillance interval is two years between sigmoidoscopies. If adenomas are detected, colonoscopic investigations should be performed annually until a colectomy is planned. In
Adenocarcinomas after Prophylactic Surgery for Familial Adenomatous Polyposis  [PDF]
Joan C. Smith, Michael W. Sch?ffer, Billy R. Ballard, Duane T. Smoot, Alan J. Herline, Samuel E. Adunyah, Amosy E. M’Koma
Journal of Cancer Therapy (JCT) , 2013, DOI: 10.4236/jct.2013.41033

The incidence of familial adenomatous polyposis (FAP) is one in 7,000 to 12,000 live births. Virtually, all surgically untreated patients with FAP inevitably develop colorectal-cancer in their lifetime because they carry the adenomatous polyposis coli gene. Thus prophylactic proctocolectomy is indicated. Surgical treatment of FAP is still controversial. There are however, four surgical options: ileorectal anastomosis, restorative proctocolectomy with ileal pouch-anal anastomosis, proctocolectomy with ileostomy, and proctocolectomy with continent-ileostomy. Conventional proctocolectomy options largely lie between colectomy with ileorectal anastomosis or ileal pouch-anal anastomosis. Detractors of ileal pouch-anal anastomosis prefer ileorectal anastomosis because of better functional results and quality of life. The functional outcome of total colectomy with ileorectal anastomosis is undoubtedly far superior to that of the ileoanal pouch; however, the risk for rectal cancer is increased by 30%. Even after mucosectomy, inadvertent small mucosal residual islands remain. These residual islands carry the potential for the development of subsequent malignancy. We reviewed the literature (1975-2012) on the incidence, nature, and possible etiology of subsequent ileal-pouch and anal transit zone adenocarcinoma after prophylactic surgery procedure for FAP. To date there are 24 studies reporting 92 pouch-related cancers; 15 case reports, 4 prospective and 5 retrospective studies. Twenty three of 92 cancers (25%) developed in the pouch mucosa and 69 (75%) in anal transit zone (ATZ). Current recommendation for pouch surveillance and treatment are presented. Data suggest lifetime surveillance of these patients.

The management of desmoids in patients with familial adenomatous polyposis (FAP)  [PDF]
Seow-Choen F.
Acta Chirurgica Iugoslavica , 2008, DOI: 10.2298/aci0803083s
Abstract: Desmoids are rare in the general population but occurs in between 10 to 20% of patients with familial adenomatous polyposis (FAP). This risk is about 852 times the risk for the population at large. Desmoids are benign neoplasms that are capable of infiltrating locally with a high risk of recurrence (25-65%) even after extirpating surgery. Desmoids in FAP may occur extra-abdominally, or within the abdominal wall or most commonly intra-abdominally within the mesentery or retroperitoneal Desmoids are a major problem in patients with FAP. Mortality from desmoids is high in such patients and ranges from 18 to 31%, compared to peri-ampullary carcinomas at about 22% and cancer in the retained rectum at only about 8%. Simple drug treatment with tamoxifen or NSAIDS like sulindac should be used as first line treatment as it carries a response in 30-50% of patients. Surgery should be reserved for extra-abdominal tumours alone and only when needed. Surgery for intra-abdominal desmoids should really only be attempted for intestinal obstruction or ureteric obstruction. Dacarbazine-Doxorubicin chemotherapy may have dramatic response in some cases. Genetic transfer may unlock this disease in future and may give patients with FAP and severe desmoids hope for the future.
The value of opthalmic examinations in familial adenomatous polyposis syndrome screening
K.H. Katsanos, Marika Syrrou, E.V. Tsianos
Annals of Gastroenterology , 2007,
Abstract: SUMMARY The dominantly inherited gastrointestinal polyposis syndromes are divided into adenomatous and hamartomatous varieties, depending on the histology of the polyps. The justification for screening as a method of cancer prevention in inherited gastrointestinal polyposis syndromes is well established as the cancer risk in FAP patients presenting with symptoms varies from 32%-57%. Screening methods in inherited polyposis syndromes include non-invasive screening methods such as family tree, clinical examination for extracolonic malignancies, dilated fundus examination (CHRPE), DNA analysis and APC gene mutations.Invasive screening methods include endoscopy, small bowel radiography and fundus angiography. Congenital hypertrophy of retinal pigment epithelium (CHRPE) has been reported in association with familial adenomatous polyposis and Gardner syndrome and the presence of multiple CHRPE lesions has been correliated with the presence and development of polyposis in these conditions. When present, CHRPE is a reliable clinical marker. In CHRPE-negative families, negative ophthalmic examinations are of no diagnostic value. Opthalmoscopy facilitates genetic analysis because the status of CHRPE considerably facilitates locating the mutation in genetic diagnostics. Thus, the combination of an ophthalmic examination with a DNA analysis and endoscopy improves the risk assessment for carriers of inherited gastrointestinal polyposis syndromes. Children of affected patients should undergo flexible proctosigmoidoscopy beginning at 10 to 12 years of age and repeated every 1 or 2 years until 35 years of age; thereafter examinations should be performed every 3 years. Because the age at which colorectal polyps develop varies, screening by repeated bowel examination is necessary from puberty until at least 40 years of age before a family member can be considered unaffected. Basically, there are two surgical options for patients with inherited gastrointestinal polyposis syndromes; subtotal colectomy with ileorectostomy on the one hand, or total colectomy with pouch-anal anastomosis or terminal ileostomy on the other. Key words: FAP (familial adenomatous polyposis), APC gene (adenomatous polyposis coli), CRC (colorectal cancer), CHRPE (congenital hypertrophy of retinal pigment epithelium), inherited polyposis syndromes
Primary adenocarcinoma in the ileostomy of a woman with familial adenomatous polyposis: a case report and literature review
Ahmed Hammad, Raed Tayyem, Peter J Milewski, Shanmugavelu Gunasekaran
Journal of Medical Case Reports , 2011, DOI: 10.1186/1752-1947-5-556
Abstract: A 59-year-old Caucasian woman developed a primary adenocarcinoma in her ileostomy, complicating the stoma 31 years after its formation.Primary adenocarcinoma following panproctocolectomy for familial adenomatous polyposis is a very rare clinical entity. The risk of developing adenocarcinoma in those patients increases with time. Patient education and medical examination of the stoma are of paramount importance and should be implemented early with the need of designing a surveillance protocol for early detection and management of ileal adenomas, especially in longstanding stomas.Ileal adenomas associated with familial adenomatous polyposis (FAP) are a common finding. Many recent studies following panproctocolectomy for FAP have confirmed the presence of multiple ileal adenomas and an increase in ileal mucosal proliferation. The management protocol for FAP is prophylactic colectomy with either restorative proctocolectomy with formation of ileal pouch reservoir or ileorectostomy. Panproctocolectomy and terminal ileostomy were the first-line management option in 1950s. Currently, this procedure is performed only for cases with recurrent rectal or ileal pouch adenocarcinoma. In this study, we present a case of adenocarcinoma in the ileostomy of a patient with FAP; in this case, invasive adenocarcinoma arising in a severely dysplastic tubulovillous adenoma was found. Also, we present a literature review. To the best of our knowledge, only 11 cases in English and one in German [1] have been reported so far.A 59-year-old Caucasian woman with a previously diagnosed FAP had total colectomy with ileorectal anastomosis 34 years ago followed three years later by resection of the rectal stump and fashioning of an end ileostomy in her left iliac fossa; neither the operative details nor the pathology reports were available. Her medical history shows that she has multiple medical comorbidities, including severe sero-negative rheumatoid arthritis, lumbar disc herniation, total abdomi
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