Hereditary benign and malignant lesions of the large bowel

Wennström, Johan; Pierce, Edward R.; McKusick, Victor A.

doi:10.1002/1097-0142(197409)34:3+<850::aid-cncr2820340711>3.0.co;2-s

Cited by 87 publications

(21 citation statements)

References 40 publications

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“…The familial occurrence of cancer is a striking feature of this report, and strengthens the view of a genetic malignant trait. Wennstrom et al (1974) suggested that digestive tract carcinomas in the Peutz-Jeghers syndrome patients may arise from coincidental adenomatous polyps. That could be true at least in the large bowel where there have been a few reports of carcinomas, sometimes associated with adenomatous polyps (Altemeier, 1969;Shibata and Phillips, 1970;Dodds et al, 1972).…”

Section: Discussionmentioning

confidence: 99%

Peutz-Jeghers syndrome associated with gastrointestinal carcinoma. Report of two cases in a family.

Cochet¹,

Carrel²,

Desbaillets³

et al. 1979

Gut

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Section: Discussionmentioning

confidence: 99%

Peutz-Jeghers syndrome associated with gastrointestinal carcinoma. Report of two cases in a family.

Cochet¹,

Carrel²,

Desbaillets³

et al. 1979

Gut

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“…Familial adenomatous polyposis accounts for 1% of this cancer mortality [8]. The incidence of FAP is between 1 in 8300 and 1 in 14 025 live births affecting both genders equally, with a uniform worldwide distribution [8].…”

Section: Introductionmentioning

confidence: 99%

Uses of a familial adenomatous polyposis registry

Dalpatadu¹,

Anwar²,

Wijesuriya³

et al. 2011

Ceylon Med. J.

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Objectives To improve the prognosis of patients with familial adenomatous polyposis (FAP) by early diagnosis and prophylactic treatment through a coordinated FAP register.Design The establishment and descriptive analysis of the prospective database of the FAP registry.Setting University surgical unit, Colombo North Teaching Hospital Ragama, Sri Lanka.Patients Probands were identified by tracing all diagnosed FAP patients from 1996 to 2010 and their family members at risk.Interventions The establishment of a polyposis register included the following stages: ascertainment of probands (first contact symptomatic FAP patients), construction of pedigrees, counselling relatives and prophylactic screening of family members at risk, treatment and follow up.Results Twenty seven enrolled probands (12 male and 15 female, age 11-52 years, median age 34 years) were investigated. Pedigree analyses showed 206 relatives at risk. Twenty four family members at risk were screened of a total of 51 registered individuals. The rate of spontaneous mutations was 41%. Thirty five were diagnosed with FAP. Eight were screen detected (median age -32 years) and 27 symptomatic (median age -34 years). Concomitant colorectal cancer was detected in 17 (63%) symptomatic individuals and in 1 (13%) screen detected individual. Colectomy was performed in 27 (77%) patients while 8 (23%) are on chemoprophylaxis. Congenital hypertrophic retinal pigment epithelium was detected in 15. Desmoids tumours (6%) and other extraintestinal manifestations including osteomas, sebacious cysts and dental abnormalities (34%) were also detected. A thyroid gland malignancy was screen detected while retinoblastoma, hepatoblastoma and cerebral tumours were seen in pedigrees.Conclusions A polyposis register may improve prognosis of FAP by early detection. It will help coordinate, optimise and streamline clinical management of patients with FAP and their relatives at risk.

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“…About 2-9% of CRC arises in patients less than 50 years of age [7,8]. The majority of these cases do not have a familial colon cancer syndrome [9,10]. Failure to diagnose CRC in young patients before the disease is advanced, and who had previously sought healthcare for hematochezia, is devastating.…”

Section: Introductionmentioning

confidence: 99%

Hematochezia in the Young Patient: A Review of Health-Seeking Behavior, Physician Attitudes, and Controversies in Management

Khan

Hyman

2009

Dig Dis Sci

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Hematochezia, defined as the passage of blood or clots from the rectum, is common and can be quite alarming. Few patients in general consult their physicians for this symptom. Various reasons have been explored for this behavior. Physician attitudes also shed some light onto why some patients are referred and others are not. Hematochezia may be associated with an anal cause in most healthy young adults (<50 years of age), but some may end up being diagnosed with colorectal cancer (CRC). Many studies have looked at the usefulness of clinical presentation in helping to decide which patients need further evaluation and what the optimal mode of investigation should be. Of note, studies on patients less than 50 years of age presenting with rectal bleeding have been few and far between. The results of these studies have been contradictory to the point where, today, there is no single set of consensus guidelines on the approach to hematochezia in young patients. In this review, the value of clinical symptoms and the underlying risk of CRC in guiding this clinical decision will be discussed.

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Hereditary benign and malignant lesions of the large bowel

Cited by 87 publications

References 40 publications

Peutz-Jeghers syndrome associated with gastrointestinal carcinoma. Report of two cases in a family.

Peutz-Jeghers syndrome associated with gastrointestinal carcinoma. Report of two cases in a family.

Uses of a familial adenomatous polyposis registry

Hematochezia in the Young Patient: A Review of Health-Seeking Behavior, Physician Attitudes, and Controversies in Management

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