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).

 

FAP

AFAP/HFAS

HNPCC/Luynch

UCAN

Mean age at diagnosis

of colorectal cancer

32-39

45-55

42-49

40-70

Distribution of cancer

Random

Mainly

right colon

Mainly

right colon

Mainy

left colon

No of polyps

>100

1-100

1 (i.e. tumour)

 

Sex ratio (male:female)

1:1

1:1

1.5:1

1:1

Endoscopic view

of polyp

Pedunculated

Mainly flat

Pedunculated (45%);

flat (55%)

None

Lag time (years)

from early adenoma to

occurrence of cancer

10-20

10

5

?<8

Proportion (%)

of colonic cancer

1

0.5

1-5

<0.5

Superficial

physical stigmata

80% have retinal pigmentation None

None

Only in Muir-Torre syndrome

None

Distribution of polyps

Distal colon or universal

Main proximal to splenic with rectal sparing

Mainly proxicmal to splenic flexure

None

Carcinoma histology

More exophytic growth

Non-exophytic but very variable

Inflamation increased mucin

Mucosal ulceration and inflamation

Other

associated tumours

Duodenal
adenoma cerebral and thyroid tumours, medulloblastoma and desmoids

Duodenal adenoma

Endometrial ovarian, gastric cancer,
glioblastoma, many other cancers

 

Gene (chromosome)

mutation

APC (5q 21) distal to 5

APC (5q 21)
proximal to 5

MHS2 (2p), MLH1 (3p21), PMS1 (2q31), PMS2 (7p22)

Multiple mutations, 17p (p53), 5q (APC), 9p (p16)

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.