Colorectal cancer in familial adenomatous polyposis: Are there clinical predictive factors?

Campos, Fábio Guilherme; Freitas, Isabella; Imperiale, Antônio Rocco; Seid, Víctor Edmond; Perez, Rodrigo Oliva; Nahas, Sérgio Carlos; Ivan, Cristina

doi:10.1016/s2173-5077(10)70045-4

Cited by 3 publications

(1 citation statement)

References 45 publications

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“…Six cancers were found at the first screening endoscopy. In line with our findings, a previous study also reported that FAP patients with cancer were older at the time of surgery than those without cancer, and the mean ages of our patients at the time of treatment were comparable with previously reported data [16]. The screening of patients with cancer diagnosed at the first endoscopy started at an older age, because the probands of their families were only identified at this time.…”

Section: Discussionsupporting

confidence: 92%

Timing of prophylactic colectomy in familial adenomatous polyposis

2020

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Aim The aim was to evaluate the timing of prophylactic colectomy in patients with familial adenomatous polyposis (FAP) in Finland. Method All Finnish FAP patients were included from the years 1963-2018. Among the 452 FAP patients studied, 252 were called up as relatives of the proband. Of these, 180 underwent prophylactic colectomy. Patient data including mutation characteristics and surgical technique were collected. We assessed the timing of prophylactic colectomy in relation to the time of diagnosis, time of decision for surgery and age. Results There were 94 (52%) colectomies with ileorectal anastomosis, 79 (44%) proctocolectomies with ileal pouch-anal anastomosis and seven (4%) proctocolectomies with an ileostomy. Median age at diagnosis and at the time of surgery was 20.9 and 25.2 years, respectively. The median time from decision to operate to undergoing surgery was 4 months. There were eight (4%) cancers in the colectomy specimens, but none was found during the annual follow-ups after the firstround endoscopy. After genetic testing became available, the diagnosis was made primarily by either genetic testing in 52 (49%) or endoscopy in 54 (51%) patients at a median age of 17.8 and 19.3 years, respectively. Thirty-eight (21%) patients died during follow-up, 23 (61%) for FAP-related reasons and only six from rectal cancer. The relative survival of 30 years from diagnosis was 84% and 78% in men and women, respectively. Conclusions For those who underwent surgery, timing of prophylactic surgery was successful as there were no unexpected colorectal cancers found in colectomy specimens among the screened patients. Two major improvements over the study period have changed the treatment of FAP patients: one is the introduction of the ileal pouch-anal anastomosis procedure and the other is the availability of genetic testing. FAP-related extra-colonic malignancies affect the relative survival of these patients after prophylactic surgery.

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Section: Discussionsupporting

confidence: 92%

Timing of prophylactic colectomy in familial adenomatous polyposis

2020

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Biology of colorectal cancer

Arvelo¹,

Sojo²,

Cotte

2015

ecancer

108

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Colorectal cancer is a serious health problem, a challenge for research, and a model for studying the molecular mechanisms involved in its development. According to its incidence, this pathology manifests itself in three forms: family, hereditary, and most commonly sporadic, apparently not associated with any hereditary or familial factor. For the types having inheritance patterns and a family predisposition, the tumours develop through defined stages ranging from adenomatous lesions to the manifestation of a malignant tumour. It has been established that environmental and hereditary factors contribute to the development of colorectal cancer, as indicated by the accumulation of mutations in oncogenes, genes which suppress and repair DNA, signaling the existence of various pathways through which the appearance of tumours may occur. In the case of the suppressive and mutating tracks, these are characterised by genetic disorders related to the phenotypical changes of the morphological progression sequence in the adenoma/carcinoma. Moreover, alternate pathways through mutation in BRAF and KRAS genes are associated with the progression of polyps to cancer. This review surveys the research done at the cellular and molecular level aimed at finding specific alternative therapeutic targets for fighting colorectal cancer.

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Surgical treatment of familial adenomatous polyposis: Dilemmas and current recommendations

Campos¹

2014

WJG

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Familial adenomatous polyposis (FAP) is an autosomal dominant inherited syndrome characterized by multiple adenomatous polyps (predisposing to colorectal cancer development) and numerous extracolonic manifestations. The underlying genetic burden generates variable clinical features that may influence operative management. As a precancerous hereditary condition, the rationale of performing a prophylactic surgery is a mainstay of FAP management. The purpose of the present paper is to bring up many controversial aspects regarding surgical treatment for FAP, and to discuss the results and perspectives of the operative choices and approaches. Preferably, the decision-making process should not be limited to the conventional confrontation of pros and cons of ileorectal anastomosis or restorative proctocolectomy. A wide discussion with the patient may evaluate issues such as age, genotype, family history, sphincter function, the presence or risk of desmoid disease, potential complications of each procedure and chances of postoperative surveillance. Therefore, the definition of the best moment and the choice of appropriate procedure constitute an individual decision that must take into consideration patient's preferences and full information about the complex nature of the disease. All these facts reinforce the idea that FAP patients should be managed by experienced surgeons working in specialized centers to achieve the best immediate and long-term results.

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Colorectal cancer in familial adenomatous polyposis: Are there clinical predictive factors?

Cited by 3 publications

References 45 publications

Timing of prophylactic colectomy in familial adenomatous polyposis

Timing of prophylactic colectomy in familial adenomatous polyposis

Biology of colorectal cancer

Surgical treatment of familial adenomatous polyposis: Dilemmas and current recommendations

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