scholarly journals Depressed-Type Colonic Lesions and “De Novo” Cancer in Familial Adenomatous Polyposis: A Colonoscopist’s Viewpoint

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
Shin-ei Kudo ◽  
Yuusaku Sugihara ◽  
Hiroyuki Kida ◽  
Fumio Ishida ◽  
Hideyuki Miyachi ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Familial Adenomatous Polyposis ◽  
De Novo ◽  
Early Stage ◽  
Colorectal Cancers ◽  
Adenomatous Polyposis ◽  
Depressed Type ◽  
Polyposis Syndrome ◽  
De Novo Cancer ◽  
Almost All

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.

Hereditary Colorectal Cancer and Polyposis Syndromes

2021 ◽  
Author(s):  
Jose G. Guillem ◽  
John B Ammori
Keyword(s):  
Colorectal Cancer ◽  
Familial Adenomatous Polyposis ◽  
Lynch Syndrome ◽  
Juvenile Polyposis ◽  
Prophylactic Surgery ◽  
Cancer Type ◽  
Adenomatous Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
Peutz Jeghers Syndrome

The majority of cases of inherited colorectal cancer (CRC) are accounted for by two syndromes: Lynch syndrome and familial adenomatous polyposis (FAP). In the management of FAP, the role of prophylactic surgery is clearly defined, although the optimal procedure for an individual patient depends on a number of factors. In the management of Lynch syndrome, the indications for prophylactic procedures are emerging. The authors address the clinical evaluation, investigation findings, medical and surgical therapy, and extracolonic diseases of FAP, attenuated form of FAP (AFAP), MYH-associated polyposis, Lynch syndrome, familial colorectal cancer type X (FCCTX), hyperplastic polyposis syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome. AFAP has been described that is associated with fewer adenomas and later development of CRC compared with classic FAP. The AFAP phenotype occurs in less than 10% of FAP patients. The clinical criteria for AFAP are no family members with more than 100 adenomas before the age of 30 years and (1) at least two patients with 10 to 99 adenomas at age over 30 years or (2) one patient with 10 to 99 adenomas at age over 30 years and a first-degree relative with CRC with few adenomas. Given that polyposis has a later onset and the risk of CRC is less well established in AFAP, some authors question whether prophylactic colectomy is necessary in all AFAP patients. This review contains 26 tables and 173 references Keywords: Colorectal cancer, Lynch syndrome, hyperplastic polyp, Peutz-Jeghers syndrome, juvenile polyposis syndrome, familial adenomatous polyposis

Gardner-associated fibroma of the neck: role of a multidisciplinary evaluation for familial adenomatous polyposis diagnosis

2021 ◽  
pp. 030089162110093
Author(s):  
Stefano Signoroni ◽  
Guglielmo Niccolò Piozzi ◽  
Paola Collini ◽  
Ivana Maria Francesca Cocco ◽  
Davide Biasoni ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Familial Adenomatous Polyposis ◽  
De Novo ◽  
Gastrointestinal Symptoms ◽  
Surgical Removal ◽  
Adenomatous Polyposis ◽  
Autosomal Dominant Disorder ◽  
Gastrointestinal Polyposis ◽  
Predictive Genetic Test ◽  
Colon And Rectum

Introduction: Familial adenomatous polyposis (FAP) is a hereditary autosomal dominant disorder characterized by the development of multiple adenomas in the colon and rectum with a lifetime risk of 80%–100% to develop colorectal cancer if undetected or untreated. Gardner-associated fibroma (GAF) is a rare, benign soft tissue lesion with uncertain pathogenesis. GAF is generally associated with FAP in its clinical variant, called Gardner syndrome (GS). Case Description: A 16-year-old boy with no comorbidities and no significant medical history was referred to the Unit of Hereditary Digestive Tract Tumours, Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy, for genetic counselling after surgical removal of a right anterior cervical paramedian fibroma. The histopathology on the specimen led to the diagnosis of GAF. He had no family history for colorectal cancer or gastrointestinal polyposis and denied any gastrointestinal symptoms. Physical examination showed a small frontal osteoma and colonoscopy showed the presence of multiple small sessile polyps (>100 polyps, diameter <5 mm) diffusely present on the large bowel. Genetic testing revealed a pathogenic germline variant in the APC gene. The predictive genetic test on the patient’s parents and sister was negative for the identified APC mutation; therefore, the patient carried an apparent de novo germline mutation. Conclusions: GAF may represent a sentinel sign of FAP, preceding gastrointestinal symptoms and endoscopic findings. A careful multidisciplinary approach is determinant for correct and early diagnosis of FAP.

scholarly journals Familial adenomatous polyposis syndrome with colorectal cancer in two Nigerians: a report of two cases and review of literature

2018 ◽  
Vol 30 ◽  
Author(s):  
Matthew Olumuyiwa Bojuwoye ◽  
Abdulfatai Bamidele Olokoba ◽  
Olumuyiwa Ayotunde Ogunlaja ◽  
Sulaiman Olayide Agodirin ◽  
Olatunde Kazeem Ibrahim ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Familial Adenomatous Polyposis ◽  
Adenomatous Polyposis ◽  
Review Of Literature ◽  
Polyposis Syndrome

scholarly journals MutYH-associated polyposis

2019 ◽  
Vol 91 (2) ◽  
pp. 97-100 ◽  
Author(s):  
M Kh Toboeva ◽  
Yu A Shelygin ◽  
S A Frolov ◽  
M A Kuzminov ◽  
A S Tsukanov
Keyword(s):  
Colorectal Cancer ◽  
Familial Adenomatous Polyposis ◽  
Autosomal Recessive ◽  
Adenomatous Polyposis ◽  
Polyposis Syndrome ◽  
Recessive Type ◽  
Disease Mutations ◽  
Increased Risk ◽  
Mutyh Associated Polyposis ◽  
Weakened Form

MutYH-associated polyposis is the only polyposis syndrome with an autosomal recessive type of inheritance, often phenotypically similar to a weakened form of familial adenomatous polyposis. For the development of the disease mutations in both alleles of the gene are required, but an increased risk of developing colorectal cancer in carriers of monoallelic mutations is noted. The diagnosis of MutYH-associated polyposis should be suspected in a patient with colorectal cancer over 45 years old on the background of polyps in the colon. The review presents modern algorithms for diagnostic and treatment of the disease.

ID: 3524040 THE NATURAL HISTORY OF AMPULLARY ADENOMAS IN FAMILIAL ADENOMATOUS POLYPOSIS SYNDROME: LONG-TERM FOLLOW-UP

2021 ◽  
Vol 93 (6) ◽  
pp. AB350
Author(s):  
Achintya D. Singh ◽  
Amit Bhatt ◽  
Abel Joseph ◽  
Neal Mehta ◽  
Gautam N. Mankaney ◽  
...  
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Natural History ◽  
Adenomatous Polyposis ◽  
Polyposis Syndrome ◽  
Long Term Follow Up ◽  
History Of

scholarly journals A Case of Familial Adenomatous Polyposis with Multiple Colorectal Cancers for which DWI-MRI were Useful in Preoperative Diagnosis

2008 ◽  
Vol 41 (2) ◽  
pp. 253-257
Author(s):  
Hidenori Miyamoto ◽  
Masanori Nishioka ◽  
Nobuhiro Kurita ◽  
Kouzou Yoshikawa ◽  
Jun Higashijima ◽  
...  
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Preoperative Diagnosis ◽  
Colorectal Cancers ◽  
Adenomatous Polyposis
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