> "HNPCC가 폴립이 발생하기는 하지만 FAP 처럼 폴립이 미친듯이 다발성으로 생기는 건
아니다.."
넵
> HNPCC, FAP 두 개 구분은 무엇으로 하며 폴립의 여부, 가족력 여부
둘 다 가족력은 있지만, HNPCC 역시 HNPCC gene mutation, FAP는 APC gene mutation과 관련 있으며, FAP polyp 양상은 상당히 특징적이기 때문에 우선 FAP를 배제시킨 상태에서 아래 Amsterdam Criteria를 적용해볼 수 있겠습니다.

HNPCC Diagnosis
The Amsterdam clinical criteria or genetic testing can make a diagnosis. HNPCC is known to be associated with mutations in genes involved in the mismatch repair pathway (MLH1, MSH2, MSH6, PMS and PMS2). Mutations in MLH1 and MSH2 account for approximately 90% of detected mutations in families with HNPCC. Mutations in the MSH6 gene are seen in about 7-10% of families with HNPCC. Mutations in the PMS2 gene account for less than 5% of mutations in families with HNPCC. Up to 39% of families with mutations in an HNPCC gene do not meet the Amsterdam criteria. Therefore, families found to have a deleterious mutation in an HNPCC gene should be considered to have HNPCC regardless of the extent of the family history. It is also suggested that aberrant cytokeratin 20 and 7 expression might be suggestive for the diagnosis though its value is not entirely examined.

Amsterdam Criteria:

Three or more family members with a confirmed diagnosis of colorectal cancer, one of whom is a first degree (parent, child, sibling) relative of the other two
Two successive affected generations
One or more colon cancers diagnosed under age 50 years
Familial adenomatous polyposis (FAP) has been excluded
Amsterdam Criteria II:

Three or more family members with HNPCC-related cancers 3, one of whom is a first degree relative of the other two
Two successive affected generations
One or more of the HNPCC-related cancers diagnosed under age 50 years
FAP has been excluded

관련 링크:
http://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer
http://www.genetichealth.com/CRC_HNPCC_A_Hereditary_Syndrome.shtml
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