Exclusion of a tight linkage between familial polyposis coli and HLA

Raffoux, C; Demenais, Florence; Dupré, Nicolas; Streiff, F

doi:10.1111/j.1399-0039.1983.tb02265.x

Cited by 5 publications

References 10 publications

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HLA and genetic marker studies in adenomatous polyposis

Bodmer

Kennedy

Brennan

et al. 1985

Journal of British Surgery

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of cancer is small, less than 5 per cent. However, only 13 per cent of patients in these series were followed for 20 years as opposed to 46 per cent in Adson's study. Thus, Adson's study has not only an older patient population, but also a significantly longer period of follow up. Both these factors are likely to result in the greater risk for rectal cancer which he observes. The concerns raised in the Mayo series were recently echoed by Watne from the University of West Virginia where rectal cancer has developed in 22 per cent of 32 patients followed up to 20 years with a mean of 14 years.Of greatest interest is how this concern translates into practice at the Mayo Clinic. Since 1950, 299 patients have been seen with familial polyposis. Twenty-six patients presented with metastatic carcinoma or refused treatment, leaving 273 who underwent surgery. One hundred and seventy-three had a colectomy with ileorectostomy, predominantly in more recent years. Clearly this is a well-accepted procedure. If the rectum has many polyps (more than 20) and particularly if these polyps are clustered, rectal excision is preferred. Among the 173 patients having ileorectostomy, 43 developed extensive and increasing rectal polyposis and underwent proctectomy; 26 with a Brook ileostomy, 4 with a Kock pouch, and 13 with an ileoanal anastomosis. DiscussionIt would seem that the concerns raised by the Mayo experience do not necessarily translate into a dramatically different surgical experience. If a patient presents with polyps carpeting the distal rectum, removal is indicated. Fulguration may not adequately remove these multiple polyps, which is not the usual presentation. Most patients will have few polyps in their distal rectum and are good candidates for an ileorectostomy. Careful follow-up will then be required. If clustering or carpeting of the rectum begins to develop, proctectomy is considered, with or without continence preservation.All surgeons recognize the malignant potential of the retained rectum and although the emphasis on malignant potential may vary from one institution to another, I suspect that most surgeons manage their patients by very similar criteria for proctectomy and rectal preservation. References 1.2. 3. 4. 5.6. 7.Moertel CG, Hill

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HLA and genetic marker studies in adenomatous polyposis

Bodmer

Kennedy

Brennan

et al. 1985

Journal of British Surgery

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Lack of association and linkage between HLA and familial polyposis coli

et al. 1987

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We investigated possible association of and linkage between HLA and familial polyposis coli (FPC). In 182 individuals from 66 pedigrees of FPC and 108 individuals from a normal population, HLA-A, -B, and -C antigens were determined. When the frequencies of HLA antigens in 66 unrelated patients and in normal controls were compared, no association of FPC with HLA was observed. For the linkage analysis, HLA haplotypes of 17 affected sib pairs were investigated by the affected sib pair method. The number of pairs which shared two, one, and no haplotypes identical by descent was not significantly different from the number expected with random occurrence (P greater than 0.95). Finally, seven families were analyzed using Morton's sequential test. A maximum lod score of -0.056 at a recombination fraction of 0.4, and a lod of -3.089 at a recombination fraction of 0.05 were obtained. Therefore, there is neither an association of nor linkage between FPC and HLA.

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Congenital hypertrophy of the retinal pigment epithelium as a marker for familial adenomatous polyposis

Berk

Cohen

McLeod

et al. 1988

Diseases of the Colon &Amp; Rectum

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Fifty patients were assessed for congenital hypertrophy of the retinal pigment epithelium (CHRPE) as a potential phenotypic marker for familial adenomatous polyposis (FAP), with and without other extracolonic manifestations (ECM). The ocular anomaly, which characteristically is multiple, benign, and congenital, was studied in three groups. Group 1 contained eight patients with nonpolyposis colon cancer as disease controls. All had negative eye findings. Group 2 included 40 patients with FAP, 35 (87.5 percent) of whom had retinal lesions. Twenty-two of 25 patients with FAP alone had retinal lesions while 13 of 15 patients with FAP and extracolonic manifestations were similarly affected. Group 3 included 11 offspring at risk for FAP. Eight (72.7 percent) offspring had retinal lesions. One of the eight subjects with the ocular trait was subsequently diagnosed with FAP. Two of the eight patients also had other ECM but have not been sigmoidoscoped for FAP. Seven of 11 offspring (mean age, 12.5 years) have had negative flexible sigmoidoscopy. Specificity of the retinal lesions in FAP cannot be ascertained until subsequent adenomas are identified on follow-up of the group at risk. The gene responsible for CHRPE appears to be transmitted from one generation to another, demonstrated by the high sensitivity of the retinal lesions in patients with FAP alone and with other ECM.

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Exclusion of a tight linkage between familial polyposis coli and HLA

Cited by 5 publications

References 10 publications

HLA and genetic marker studies in adenomatous polyposis

HLA and genetic marker studies in adenomatous polyposis

Lack of association and linkage between HLA and familial polyposis coli

Congenital hypertrophy of the retinal pigment epithelium as a marker for familial adenomatous polyposis

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