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Annex 1: Main characteristics of allelic heterogeneity of
mutations in Adenomatous Polyposis Coli, Lynch Syndrome
and Neoplasia associated with chronic non-specific ulcerative colitis (CNSUC).
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FAP
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AFAP/HFAS
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HNPCC/Luynch
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UCAN
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Mean age at diagnosis
of colorectal cancer
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32-39
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45-55
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42-49
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40-70
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Distribution of cancer
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Random
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Mainly
right colon
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Mainly
right colon
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Mainy
left colon
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No of polyps
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>100
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1-100
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1 (i.e. tumour)
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Sex ratio (male:female)
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1:1
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1:1
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1.5:1
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1:1
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Endoscopic view
of polyp
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Pedunculated
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Mainly flat
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Pedunculated (45%);
flat (55%)
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None
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Lag time (years)
from early adenoma to
occurrence of cancer
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10-20
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10
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5
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?<8
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Proportion (%)
of colonic cancer
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1
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0.5
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1-5
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<0.5
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Superficial
physical stigmata
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80% have retinal pigmentation None
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None
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Only in Muir-Torre syndrome
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None
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Distribution of polyps
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Distal colon or universal
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Main proximal to splenic with rectal sparing
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Mainly proxicmal to splenic flexure
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None
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Carcinoma histology
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More exophytic growth
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Non-exophytic but very variable
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Inflamation increased mucin
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Mucosal ulceration and inflamation
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Other
associated tumours
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Duodenal
adenoma cerebral and thyroid tumours, medulloblastoma and desmoids
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Duodenal adenoma
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Endometrial ovarian, gastric cancer,
glioblastoma, many other cancers
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Gene (chromosome)
mutation
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APC (5q 21) distal to 5
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APC (5q 21)
proximal to 5
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MHS2 (2p), MLH1 (3p21), PMS1 (2q31), PMS2 (7p22)
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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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