Clinical and molecular analysis of hereditary non-polyposis colorectal cancer in Chinese colorectal cancer patients

Table 1 Diagnosis criteria of hereditary non-polyposis colorectal cancer

Amsterdam criteria I
There should be at least three relatives with histologically verified CRC; and all the following criteria should be met:
1) One should be a first degree relative of the other two;
2) At least two successive generations should be affected;
3) At least one CRC should be diagnosed before age 50;
4) FAP should be excluded in CRC cases;
5) Tumors should be verified by pathological examination.
Amsterdam criteria II
There should be at least three relatives with an HNPCC-associated cancer (CRC, cancer of the endometrium, small bowel, ureter or renal pelvis); and all the following criteria should be met:
1) One should be a first-degree relative of the other two;
2) At least two successive generations should be affected;
3) At least one cancer should be diagnosed before age 50;
4) FAP should be excluded in CRC cases (if present)
5) Tumors should be verified pathologically.
Japanese criteria
1 A case with 3 or more colorectal cancers within the first-degree relatives
2 A case with 2 or more colorectal cancers within the first-degree relatives meeting the following criteria:
a) Age of onset of colorectal cancer(s) being lower than 50;
b) With right colon involvement;
c) With synchronous or metachronous multiple colorectal cancers;
d) Associated with synchronous or metachronous extracolorectal malignancies.
Bethesda Guidelines
1 Individuals from families that fulfil the Amsterdam criteria;
2 Individuals with two HNPCC-related cancers, including synchronous or metachronous cancers;
3 Individuals with colorectal cancer, plus colorectal cancer and/or HNPCC-related cancer and/or colorectal adenoma in a first-degree relative; at least one of the cancers diagnosed before 45 yr of age and the adenoma diagnosed before age 40;
4 Individuals with colorectal or endometrial cancer diagnosed before age 45;
5 Individuals with right-sided colorectal cancer with an undifferentiated histopathological pattern (solid/cribiform) diagnosed before age 45;
6 Individuals with signet-ring cell type colorectal cancer diagnosed before age 45;
17 Individuals with colorectal adenomas diagnosed before age 40.

¹Condition 7 was not included in this study.

Table 2 Number and size of families classified according to different clinical criteria for hereditary non-polyposis colorectal cancer

Clinical criteria	No. of families	Family size	Mean variance
Amsterdam I	9	15.2	37.2
Amsterdam II	21	14.3	20.5
Japanese criteria	65	6.7	13.2
Set A	26	8.7	9.3
Set B	61	6.9	10.6
Bethesda	145	8.3	9.6
Condition 1	9	15.2	37.2
Condition 2	58	13.6	20.7
Condition 3	89	11.7	8.9
Condition 4	105	10.9	7.6
Condition 5	9	7.2	8.5
Condition 6	2	9.9	12.6

Table 3 Microsatellite instability of HNPCC and suspected HNPCC probands n (%)

	AmsterdamI(9 probands)	Amsterdam II(21 probands)	Japanese(65 probands)	Bethesda(145 probands)
MSI-H	67 (6)	71 (15)	71 (46)	68 (99)
MSI-L	3 (3)	19 (4)	14 (9)	10 (14)
MSS	0 (0)	10 (2)	15 (10)	22 (32)

There was no significant difference among all these four kinds of patients.