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Anexo 1: Características principales de la heterogeneidad alélica de mutaciones en Adenomatous Polyposis Coli, Síndrome de Lynch y Neoplasia asociada a colitis ulcerativa crónica inespecífica (CUCI). |
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FAP |
AFAP/HFAS |
HNPCC/Luynch |
UCAN |
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Mean age at diagnosis of colorectal cancer |
32-39 |
45-55 |
42-49 |
40-70 |
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Distribution of cancer |
Random |
Mainly right colon |
Mainly right colon |
Mainy left colon |
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No of polyps |
>100 |
1-100 |
1 (i.e. tumour) |
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Sex ratio (male:female) |
1:1 |
1:1 |
1.5:1 |
1:1 |
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Endoscopic view of polyp |
Pedunculated |
Mainly flat |
Pedunculated (45%); flat (55%) |
None |
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Lag time (years) from early adenoma to occurrence of cancer |
10-20 |
10 |
5 |
?<8 |
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Proportion (%) of colonic cancer |
1 |
0.5 |
1-5 |
<0.5 |
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Superficial physical stigmata |
80% have retinal pigmentation None |
None |
Only in Muir-Torre syndrome |
None |
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Distribution of polyps |
Distal colon or universal |
Main proximal to splenic with rectal sparing |
Mainly proxicmal to splenic flexure |
None |
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Carcinoma histology |
More exophytic growth |
Non-exophytic but very variable |
Inflamation increased mucin |
Mucosal ulceration and inflamation |
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Other associated tumours |
Duodenal |
Duodenal adenoma |
Endometrial ovarian, gastric cancer, |
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Gene (chromosome) mutation |
APC (5q 21) distal to 5 |
APC (5q 21) |
MHS2 (2p), MLH1 (3p21), PMS1 (2q31), PMS2 (7p22) |
Multiple mutations, 17p (p53), 5q (APC), 9p (p16) |
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FAP = familial adematosis polyposis coli; AFAP = attenuated familial adenomatous polyposis coli; HFAS = hereditary flat adenoma syndrome; HNPPC = hereditary non-polyposis colon cancer; UCAN = ulcerative colitis associated neoplasia. Tomado de: Al-Sukhni W, Aronson M, Gallinger S. Hereditary colorectal cancer syndromes: familial adenomatous polyposis and lynch syndrome. Surg Clin North Am. 2008; 88: 819-844, vii. doi: 10.1016/j.suc.2008.04.012. |
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